JHON MURTAGH Flashcards
Peak age incidence 10–30 years >40 years
Clinical differentiation between type 1 and type 2 diabetes
Age of onset
Usually young <20
Usually middle-aged >40
Clinical differentiation between type 1 and type 2 diabetes
Onset
Rapid
Insidious/slow
Clinical differentiation between type 1 and type 2 diabetes
___________ is also known as juvenile onset diabetes or insulin dependent diabetes mellitus
(IDDM).
Type 1
________ is also known as maturity onset diabetes or non-insulin dependent diabetes mellitus
(NIDDM).
Type 2
Type 1 has an autoimmune causation which is also responsible for a late-onset form known as
_______________________
late onset autoimmune diabetes in adults (LADA).
Drug-induced diabetes (transient)
Thiazide diuretics
Oestrogen therapy (high dose—not with low-dose HRT)
Corticosteroids
In Australians older than 25 years the prevalence of diabetes is __________, with
another 10.6% having impaired glucose tolerance
7.5%
About 30% of those with impaired glucose tolerance will develop clinical diabetes
within ________
10 years
Many people with type 2 diabetes are ______
asymptomatic
___________ may be temporarily elevated during acute illness, after trauma or
surgery.
Blood glucose
The classic symptoms of uncontrolled diabetes are:
polyuria polydipsia loss of weight (type 1) tiredness and fatigue propensity for infections, especially of the skin and genitals (vaginal thrush)
DxT thirst + polyuria + weight loss →
The young person with type 1 diabetes
Symptoms of complications (may be presenting feature) include:
staphylococcal skin infections
polyneuropathy: tingling or numbness in feet, pain (can be severe if present)
impotence
arterial disease: myocardial ischaemia, peripheral vascular disease
The young person with type 1 diabetes
Examination
The physical examination should ideally follow the protocol for annual review.
Initial screening for suspected diabetes should include:
general inspection, including skin
BMI (weight/height)
waist circumference
visual acuity
diabetes
blood pressure—lying and standing
test for peripheral neuropathy: tendon reflexes, sensation (e.g. cotton wool, 10 g
monofilament, Neurotips)
urinalysis: glucose, albumin, ketones, nitrites
diabetes
Initial: fasting or random blood sugar, follow-up oral glucose tolerance test (OGTT) or glycated haemoglobin (HbA1c) if indicated Other tests according to clinical assessment (e.g. lipids, kidney function, urine albumin– creatinine ratio (ACR), ECG)
diabetes
Age >40 years
Family history
Overweight/obesity
Sedentary lifestyle
History of gestational diabetes, pancreatitis
Women with polycystic ovarian syndrome (PCOS)
Hypertension/ischaemic heart disease
Medication causing hyperglycaemia
Ethnic/cultural groups: Aboriginal and Torres Strait Islanders, Pacific Islanders, people from
Indian subcontinent, Chinese, Afro-Caribbeans
Risk factors for DIABETES
People with known impaired fasting glucose/glucose tolerance (‘prediabetes’)
Age >40 years, or younger age (e.g. >30 years) with: family history (first-degree relative with
T2D), obesity (BMI >30), high-prevalence ethnic groups
Age >18 years in Aboriginal and Torres Strait Islander people
Previous gestational diabetes
People on long-term steroids or antipsychotics
Screening (type 2)
Polycystic ovarian syndrome, especially if overweight
Previous cardiovascular event
Screening (type 2)
The optimal frequency is every 3 years from age 40 years using AUSDRISK
Screening (type 2)
If score ≥12, do fasting blood glucose or
HbA1c. Screen annually in very high-risk groups, including Aboriginal and Torres Strait Islander
people and those with ‘prediabetes’.5
Screening (type 2)
If symptomatic (at least two of polydipsia, polyuria, frequent skin infections or frequent
genital thrush):
fasting venous blood glucose (VBG) ≥7.0 mmol/L
or
random VBG (at least 2 hours after last eating) ≥11.1 mmol/L
or
HbAIc >____________
6.5% (>48 mmol/mol)
If asymptomatic:
at least two separate elevated values, either fasting, 2 or more hours postprandial, or the two
values from ____________________________
an oral glucose tolerance test (OGTT)
If random or fasting VBG lies in an uncertain range (5.5–11.0 mmol/L) in either a
symptomatic patient or a patient with risk factors (over 50 years, overweight, firstdegree
relative with T2D), perform ___________________.
an OGTT
The 2-hour blood sugar on an OGTT is still the gold standard for the diagnosis of uncertain
diabetes, i.e. ____________________
> 11.1 mmol/L.
The OGTT should be reserved for true borderline cases and for diagnosing gestational diabetes,
where a 75 mg OGTT is recommended at _____________________________
24–28 weeks’ gestation
Diabetic ulcer, allergic to penicillin, debridement done. Next?allergic to pencillin so can’t give ________________
Ticarcillin is an extended-spectrum penicillin
Elderly pt with “painful bones, renal stones, abdominal groans, and psychic moans
Hyperparathyroidism
This is the condition where the VPG is elevated above the normal range (i.e. 6.1–6.9) but does
not satisfy the type 2 diagnostic criteria.
Prediabetes
This is the condition where the VPG is elevated above the normal range (i.e. 6.1–6.9) but does
not satisfy the type 2 diagnostic criteria. It includes two states:
impaired fasting glucose (IFG)
impaired glucose tolerance (IGT)
A diagnosis of prediabetes is not a call to start medication, but it increases the urgency of
promoting lifestyle changes such as weight reduction and ______________________.
increased physical activity
______________is unreliable in diagnosis since glycosuria occurs at different plasma glucose values in
patients with different kidney thresholds.
Urinalysis
Venous blood glucose concentration fasting up to 6 mmol/L
Normal
Venous blood glucose concentration fasting up to 6.1–6.9 mmol/L
Intermediate
hyperglycaemia
Venous blood glucose concentration fasting up to ≥7 mmol/L
Diabetes
Venous blood glucose concentration random up to 6 mmol/L
Normal
Venous blood glucose concentration random up to ≥11.1 mmol/L
Diabetes
Oral glucose tolerance test 2-hour venous blood glucose concentration up to 7.7 mmol/L
Normal
Oral glucose tolerance test 2-hour venous blood glucose concentration up to 7.8–11 mmol/L
Intermediate
hyperglycaemia
Oral glucose tolerance test 2-hour venous blood glucose concentration up to 7.8–11 mmol/L
≥11.1 mmol/L
HbA1c ≥48 mmol/mol (
Gestational diabetes is the new onset of abnormal glucose tolerance during ___________.
pregnancy
Pregnancy is diabetogenic for those with a genetic predisposition
Gestational diabetes
All pregnant women should be
screened at 24–28 weeks with _________________
a 75 g oral glucose tolerance test (OGTT).
gestational diabetes is a fasting plasma glucose of
≥5.1 mmol/L, or a post-75 g oral glucose load at 1 hour ≥10.0, or at 2 hours _____________
8.5–11.0
The incidence of diabetes rises with _________
age
On day discharge FBS
OGTT at 6-12 weeks
If normal then _____________
3 yearly FBS
Prevention of CAD in DM patients include control of BP, Blood sugar and LDL, AceI/Arbs in high risk and ___________________
smoking cessation
Meticulous foot care is very important in _____________
diabetic patients
IgA-TG2 (immunoglobulin A-tissue transglutaminase 2) antibody is the preferred single test for ___________ at any age. Concurrently measure total IgA level with serology testing to determine whether IgA levels are sufficient.
CD detection
Most common cause of secondary PPH
Retained products of conception
because gdm cause macrosomia and prolonged labour may result in cervical laceration and __________________
traumatic birth
This is a secondary post-partum bleeding and cannot possibly be from cervical laceration. Moreover, the presence of blood clots suggests it is ___________________
intrauterine bleeding.
because ulcer is localised and not severe.
In severe case( systemic involvement) __________________
I/v ticarcillin.
for deep and non-healing wound, do MRI to exclude osteomyelitis first, then tx with _______________
antibiotics
Says 3 mm deep ulcer is an indication for further evaluation for osteomyelitis. Here,the Q says purulent ulcer,non healing and 1 cm DEEP. So no doubt the next mx will be ______________.
MRI
rifampicin is enzyme inducer it will decrease efficacy ,rifampicin and ____________pill
contraceptive
poorly controlled sugar levels in the mother leads to hyperglycaemia in the fetus, which causes more release of Insulin, IGFs and Growth Hormone in the fetus and hence there’s more adipose deposition and ___________.
Macrosomia
The mainstay of treatment in diabetic patients with new onset proteinuria to aggressively control blood pressure, ideally below 130/80 mmHg. _________________ are therefore first-line therapy, angiotensin receptor blockers
can also be used.
ACE inhibitors (D)
ischaemic/coronary heart disease
cerebrovascular disease
peripheral vascular disease
Macrovascular complications include:
death (24%) myocardial infarction (22%) stroke (33%) cardiovascular death (37%) overt nephropathy (24%)
An analysis of type 2 diabetes in the HOPE study12,13 showed a benefit of ramipril to reduce the
risk of:
Kidney Nerves Infection Vessels Eyes Skin
Consider organs/problems affected by diabetes under the mnemonic ‘KNIVES’:
The small vessels most affected from a clinical viewpoint are the retina, nerve sheath and kidney
glomerulus. In younger people it takes about 10 to 20 years after diagnosis for the problems of
diabetic retinopathy, neuropathy and nephropathy to manifest.
Microvascular disease
Prevention of diabetic nephropathy is an essential goal of treatment. Early detection of the
yardstick, which is microalbuminuria, is important as the process can be reversed with optimal
control, particularly of _____________________
blood pressure.
The dipstick method is unreliable and the preferred
hospital method of 24-hour urine collection is considered impractical in general practice
diabetic nephropathy
Screening is done simply by a first morning urine sample to determine the albumin–creatinine
ratio
diabetic nephropathy
ACE inhibitors (or angiotensin II receptor blockers if a cough develops) should be used for evidence of hypertension.
diabetic nephropathy
Retinopathy develops as a consequence of ________________disease of the retina
microvascular
Assessment of the fundus by an expert is recommended every 1–2 years, via direct
ophthalmoscopy (with dilated pupils), retinal photography or, if necessary, fluorescein
angiography.
Retinopathy and maculopathy
Early diagnosis of serious retinopathy is vital since the early use of laser
photocoagulation may delay and prevent ________________
visual loss.
radiculopathy (diabetic lumbosacral radiculoplexopathy)
sensory polyneuropathy
isolated or multiple mononeuropathy
isolated peripheral nerve lesions (e.g. median nerve)
cranial nerve palsies (e.g. III, VI)
amyotrophy
diabetic Neuropathy
autonomic neuropathy, which may lead to:
erectile dysfunction
postural hypotension and syncope
impaired gastric emptying (gastroparesis)
diabetic Neuropathy
diarrhoea
delayed or incomplete bladder emptying
loss of cardiac pain → ‘silent’ ischaemia
hypoglycaemic ‘unawareness’
sudden arrest, especially under anaesthetic
diabetic Neuropathy
skin: mucocutaneous candidiasis (e.g. balanitis, vulvovaginitis), staphylococcal infections (e.g.
folliculitis)
poorly controlled diabetes
urinary tract: cystitis (women), pyelonephritis and perinephric abscess
poorly controlled diabetes
lungs: pneumonia (staphylococcal, streptococcal pneumonia), tuberculosis
poorly controlled diabetes
Hypoglycaemia
Diabetic ketoacidosis
Hyperosmolar hyperglycaemia
Lactic acidosis
Diabetic metabolic complications
Cataracts Refractive errors of eye Sleep apnoea Depression Musculoskeletal: neuropathic joint damage (Charcot-type arthropathy), tendon rupture Foot ulcers (related to neuropathy)
Diabetic complications
intensive lifestyle intervention in individuals who are
overweight with impaired glucose tolerance or raised fasting blood glucose
Prevention of diabetes
reduction of ‘lifestyle’ risks—weight, smoking, low physical activity
Management of diabetes
strict glycaemic control as measured by HbA1c (target varies with circumstance, but usually
≤7%)
Management of diabetes
blood pressure control (≤140/90 mmHg, lower if tolerated)
Management of diabetes
control of blood lipid levels
Management of diabetes
four times a day (before meals and before bedtime) at first and for problems
twice a day (at least once)
may settle for 1–2 times a week (if good control)
Blood glucose monitoring at home
Type 1 diabetes
important for those on insulin, not routinely recommended for oral medication (monitor
with HbA1c instead, in most circumstances)
more useful for pregnant women, frail elderly, heavy machinery operators or symptomatic
hypoglycaemia
Blood glucose monitoring at home
Type 2 diabetes
which normally comprises 4–6% of the total haemoglobin, is abnormally abundant in
those with persistent hyperglycaemia, reflecting suboptimal metabolic control.
HbA1c,
__________________have a long half-life and their measure reflects the mean plasma glucose
levels over the past 2–3 months and hence provides a good method of assessing overall diabetes
management.
Glycohaemoglobins
__________ should be checked every 3–6 months
HbA1c
rapid-acting and short duration (ultra-short)
insulin lispro, insulin aspart
short-acting—neutral
regular, soluble
intermediate-acting
isophane (NPH) or lente
long-acting
ultralente, insulin detemir, insulin glargine
diet therapy
exercise program
weight loss
Type 2 diabetes
First-line treatment
Most symptoms improve within 1–4 weeks on diet and exercise
Type 2 diabetes
First-line treatment
If unsatisfactory control persists after 3–6 months, consider adding an oral
hypoglycaemic agent
Type 2 diabetes
First-line treatment
The usual first-line agent is metformin, which reduces
_________________.
insulin resistance
If glycaemic targets are not achieved on monotherapy, usual practice is to add
in a secretagogue, such as a sulfonylurea, which increases _____________________
insulin production
newer agents SGLT2 inhibitors (the gliflozins) and GLP-1 receptor agonists (injected) should be
considered for their ___________________________
cardioprotective and renoprotective effects
12 (also slowrelease daily dosage) 0.5–3 g Side effects: GIT disturbances (e.g. diarrhoea, a/n/v)
Metformin
a biguanide
Hypoglycaemia
most common side
effect
Gliclazide
Dubious mortality
benefit. Caution with
heart failure.
Thiazolidinediones
glitazones
Oedema, weight
gain, heart failure
Thiazolidinediones
glitazones
horners syndrome triad includes ptosis,anhidrosis,miosis .It is associated with
pancoast tumor
___________ should be painless haematuria
Bladder Ca
Precipitating factor insulin insufficient, interrupted insulin therapy, infection,infection, stress, alcohol
DkA
If no thyroid swelling but features of hyperthyroidism then __________ first then RIU scan.
TSH-R Ab
Multiple myeloma is present with fatigue lethargy and ______________
hypercalcemia
indepamide cause __________ work as diuretics
hyponatramia
indapamide causing
Hyponatremia results in ____________
confusion
Hypoglycaemia is theoretically defined as blood glucose falling below __________
4.0 mmol/L
Classic warning symptoms: sweating, tremor, palpitations, hunger, peri-oral paraesthesia
Hypoglycaemia
30 mL 50% glucose slow IV push
Treatment (reduced conscious state or unconscious)
Usually 10 mL in children. 50% glucose slow IV push
Treatment (reduced conscious state or unconscious)
This life-threatening emergency requires intensive management. It usually occurs during an
illness (e.g. gastroenteritis) when insulin is omitted. It can also occur in type 2 diabetes.
Diabetic ketoacidosis24
Develops over a few days, but may occur in a few hours in ‘brittle’ diabetics
Diabetic ketoacidosis
Hyperglycaemia (often >20 mmol/L, lower or normal if on SGLT2 inhibitor)
Diabetic ketoacidosis
Preceded by polyuria, polydipsia, drowsiness
Diabetic ketoacidosis
Vomiting and abdominal pain, dehydration
Diabetic ketoacidosis
Hyperventilation—severe acidosis (acidotic breathing): ↓BP, ↑pulse, ↑resp. rate
Diabetic ketoacidosis
Ketosis (blood and urine)
Diabetic ketoacidosis
Arrange urgent hospital admission
Diabetic ketoacidosis
Early IV fluids—normal saline fast first litre, then caution
Diabetic ketoacidosis
IV insulin—slow, e.g. 10 U in first hour
Diabetic ketoacidosis
ECG—arrhythmia in electrolyte disturbances
Diabetic ketoacidosis
Diabetic ketoacidosis with __________requires fluid, sodium (eventually 3 L N saline), potassium
(KCl) and insulin.
coma
People with this problem may present with an altered conscious state varying from stupor to
coma and with marked dehydration
Hyperosmolar hyperglycaemia
The onset may be insidious over a period of weeks, with
fatigue, polyuria and polydipsia.
Hyperosmolar hyperglycaemia4
The key features are marked hyperglycaemia and dehydration without ketoacidosis
Hyperosmolar hyperglycaemia4
It occurs typically in uncontrolled type 2 diabetes, especially in elderly
patients.
Hyperosmolar hyperglycaemia4
There may be evidence of an
underlying disorder such as pneumonia or a urinary infection
Hyperosmolar hyperglycaemia4
The essential findings are extreme
hyperglycaemia and high plasma osmolarity
Hyperosmolar hyperglycaemia4
The condition has a high mortality—even higher
than ketoacidosis.
Hyperosmolar hyperglycaemia4
IV fluids, e.g. normal to ½ normal saline, given slowly
Insulin—relatively lower doses than acidosis
Hyperosmolar hyperglycaemia4
Patients with ____________ present with marked hyperventilation ‘air hunger’ and confusion
lactic acidosis
has a high mortality rate and must be considered in the very ill person taking metformin,
especially if kidney function is impaired
Lactic acidosis
Investigations reveal blood acidosis (low pH), low bicarbonate,
high serum lactate, absent serum ketones and a large anion gap
Lactic acidosis
Treatment is based on removal
of the cause, rehydration and alkalinisation with IV sodium bicarbonate
Lactic acidosis
The prevalence of erectile dysfunction in men with type 2 diabetes over 40 years may be as high
as __________. It may be caused by macrovascular disease, pelvic autonomic neuropathy or
psychological causes.
50%
Autonomic ___________-related postural hypotension may be compounded by medication,
including antihypertensives and anti-angina agents.
neuropathy
Symptoms of gastroparesis (due to autonomic neuropathy) with decreased gastric emptying
include a sensation of fullness, dysphagia, reflux or recurrent nausea and vomiting, especially
________________.
after meals
Treatment options include medication with domperidone, cisapride or erythromycin
Gastroparesis
Injections of botulinum toxin type A into the pylorus via gastroscopy may facilitate gastric
emptying.
Gastroparesis
In general terms, people controlled by diet alone have no restrictions
for driving whereas those on ____________may obtain a conditional licence subject to annual or 2-
yearly review.
insulin
Long-acting reversible contraceptives (e.g. Implanon, Mirena) or the combined oral
contraceptive pill are appropriate options for birth control in women not interested in permanent
sterilisation. Bear in mind the possibility of polycystic ovarian syndrome
Contraception IN DIATEICS
requires specialist evaluation and then 1- to 2-yearly review
Type 1 diabetes
For _____________screening: every 2 years to inspect retina (or use retinal photography)
ophthalmological
Many cases of type 2 diabetes remain _____________, so vigilance is important.
undiagnosed
__________is a common cause of tiredness. If elderly people with type 2
diabetes are very tired, think of _____________
Hyperglycaemia
If a person with diabetes (particularly type 1) is very drowsy and looks sick,
consider first the diagnosis of ______________
ketoacidosis
__________ is vital: always examine the feet when the person comes in for review
Foot care
Treat associated hypertension with ACE inhibitors or a calcium-channel blocker
(also good in combination).
DIABETES
‘Never let the sun go down on pus in a diabetic foot’—______________
admit to hospital
If a foot ulcer hasn’t healed in 6 weeks, exclude osteomyelitis. Arrange for __________
and investigate the vasculature.
an MRI
Diabetes control: _____-monthly review
3
hyperuricaemia due to
thiazide diuretics
___________________________, which should be used in conjunction with an educational
support program, has been proved to be effective and is available as chewing gum, inhaler, oral
spray, lozenges, sublingual tablets or transdermal patches (the preferred method). Ideally the
nicotine should not be used longer than 3 months
Nicotine replacement therapy (NRT)
This oral agent has a similar effectiveness to NRT.
Bupropion (Zyban)
Adverse effects include insomnia and dry mouth (both common), with serious effects, such as
allergic reactions and increased seizure risk.7 It is contraindicated in persons with a history of
epilepsy.
Recommended dose: 150 mg (o) daily for 3 days then bd for 12 weeks.
Bupropion (Zyban)
It is an effective agent but there are several adverse side effects, especially nausea with a concern
about neuropsychiatric effects
Varenicline tartrate
serum _________: elevated in chronic drinkers (returns to normal with cessation of intake)
GGT
abnormal liver function tests (other than GGT)
alcohol
__________________-deficient transferrin (quite specific—dependent on an enzyme induced by
alcohol)
carbohydrate
is a serious life-threatening withdrawal state. It has a high mortality rate if inadequately
treated and hospitalisation is always necessary.
Alcohol withdrawal delirium (delirium tremens)
May be precipitated by intercurrent infection or trauma
1–5 days after withdrawal (usually 3–4 days)
Disorientation, agitation
Clouding of consciousness
Marked tremor
Visual hallucinations (e.g. spiders, pink elephants)
Sweating, tachycardia, pyrexia
Signs of dehydration
Alcohol withdrawal delirium (delirium tremens)
Hospitalisation with alcohol specialist advisory service
Correct fluid and electrolyte imbalance with IV therapy
Treat any systemic infection
Thiamine (vitamin B1) 300 mg IM or IV daily for 3–5 days, then thiamine 300 mg (o) daily
Diazepam 20 mg (o) every 2 hours (up to max. 100 mg daily)
Alcohol withdrawal delirium (delirium tremens)
Chlorpromazine is not recommended because of its potential to lower seizure threshold.
Diazepam and haloperidol may worsen the symptoms of hepatic toxicity
Alcohol withdrawal delirium (delirium tremens)
Overdose is potentially fatal. The average lethal blood alcohol concentration is about 0.45–0.5%.
Alcohol overdose
Loss of appetite, nausea (possibly vomiting) Lacrimation/rhinorrhoea Tiredness/insomnia Muscle aches and cramps Abdominal colic Diarrhoea
Opioid withdrawal effects19,20
Maximum withdrawal symptoms
usually occur between 36 and 72 hours and tend to subside after 10 days
Opioid withdrawal effects19,20
Buprenorphine controlled withdrawal (short term) is used to prevent the emergence of a
withdrawal syndrome
Opioid withdrawal
In Australia, most people with anaemia will have ___________ ranging from up
to 5% for children to 20% for menstruating females
iron deficiency
The remainder will mainly have anaemia of ______________
chronic disorders
probably the best test to monitor iron-deficiency anaemia
The serum ferritin level, which is low in cases of iron-deficiency anaemia
DxT fatigue + palpitations + exertional dyspnoea →
anaemia
tiredness/fatigue muscle weakness headache and tinnitus lack of concentration faintness/dizziness dyspnoea on exertion palpitations angina on effort intermittent claudication pica—usually brittle and crunchy food
anaemia
inadequate diet, pregnancy, GIT loss, menorrhagia, NSAID and anticoagulant
ingestion
iron deficiency
inadequate diet especially with pregnancy and alcoholism, small bowel
disease
folate deficiency
previous gastric surgery, ileal disease or surgery, pernicious anaemia, selective diets (e.g. vegetarian, fad)
vitamin B12 deficiency
abrupt onset anaemia with mild jaundice
haemolysis
MCV ≤ 80 fL
microcytic
MCV >100 fL
macrocytic
MCV 80–100 fL
normocytic
Iron deficiency
Thalassaemia
Anaemia of chronic disease
Sideroblastic anaemia
Microcytic (MCV < 80 fL)
Vitamin B12 deficiency Folate deficiency Myelodysplastic disorders Cytotoxic drugs Liver disease/alcoholism
Microcytic (MCV > 100 fL)
Kidney disease Anaemia of chronic disease Endocrine failure/hypothyroidism Haemolysis Aplastic anaemia
Normocytic (MCV 80–100 fL)
Microcytic anaemia Serum ferritin level low (NR: F 15–200 mcg/L: M 30–300 mcg/L) Serum iron level low Increased transferrin level Microcytic hypochromic red cells MCV ↓, MCH ↓, MCHC ↓ Reduced transferrin saturation Response to iron therapy
Iron-deficiency anaemia3
Angular cheilosis/stomatitis Glossitis Oesophageal webs Atrophic gastritis Brittle nails and koilonychias
Non-haematological effects of chronic iron deficiency
Menorrhagia Gastrointestinal bleeding (e.g. carcinoma, haemorrhoids, peptic ulcer, hiatus hernia, GORD,NSAID therapy) Frequent blood donations Malignancy Hookworm (common in tropics)
iron deficiency Causes1
Microcytic, hypochromic red cells
Anisocytosis (variation in size), poikilocytosis (shape)—pencil-shaped rods
Low serum iron level
Raised iron-binding capacity
Serum ferritin level low (the most useful index)
Haematological investigations:
Oral iron is continued for __________ months to replenish stores.
3 to 6
significant microcytosis quite out
of proportion to the normal Hb or slight anaemia, and confirmed by finding a raised HbA2 on Hb
electrophoresis.
diagnosis of heterozygous thalassaemia minor
Treatment of ______________ is transfusion to a high normal Hb with packed cells plus
desferrioxamine.
thalassaemia major
Each individually, or in combination, leads to macrocytosis with or without anaemia
Alcohol and liver disease
It is usually caused by lack of intrinsic factor due to autoimmune atrophic changes
and by gastrectomy
Vitamin B12 deficiency pernicious anaemia
is found in the normal diet but only in foods of animal origin and
consequently very strict vegetarians may eventually develop deficiency.
Vitamin B12 (cobalamin)
atrophic gastritis H. pylori infection H2 receptor blockers PPI drugs other drugs, e.g. OCP, metformin chronic alcoholism HIV strict vegan diet
Causes of food vitamin
B12 deficiency are
The main cause is poor intake associated with old age, poverty and malnutrition, usually
associated with alcoholism. It may be seen in malabsorption and regular medication with antiepileptic
drugs such as phenytoin
Folic acid deficiency
Oral __________5 mg/day to replenish body stores (5–10 mg). This takes about 4 weeks but continue
for 4 months.
folate
This is the most common cause of normocytic anaemia and is usually due to haematemesis
and/or melaena.
Acute haemorrhage
This is often associated with anaemia due to failure of erythropoietin secretion and is
unresponsive to treatment
Kidney failure
if there is a reticulocytosis, mild macrocytosis, reduced haptoglobin,
increased bilirubin and urobilinogen.
Suspect haemolytic anaemia
The more
common of the congenital ones are hereditary spherocytosis, sickle-cell anaemia and deficiencies
of the red cell enzymes, pyruvate kinase and G-6-PD, although most cases of G-6-PD deficiency
haemolyse
haemolytic anaemia
clinical features of anaemia (Hb ↓), infection (WCC ↓) or bleeding (platelets
↓).
Aplastic anaemia
Diagnosis is by bone marrow examination.
Aplastic anaemia
_______deficiency is present in up to 10–30% of children in high-risk groups
Iron
High-risk groups include those infants <6 months who are premature and/or with low
birthweight; toddlers 6–36 months with a diet high in cow’s milk and low in iron-containing
foods
Iron deficiency in children10
Introduce _______-containing solids early—at 4 to 5 months, e.g. cereals, vegetables, egg and
meat.
iron
Encourage breastfeeding and avoid cow’s milk in the first 12 months
Iron deficiency in children
__________ anaemia is blood-loss anaemia until proved otherwise
Iron-deficiency
__________ anaemia is usually due to menorrhagia or gastrointestinal loss until
proved otherwise.
Blood-loss
Serum free tri-iodothyronine (T3) measurement and serum free thyroxine (T4) can be useful in
suspected ____________
T3 toxicosis
TSH receptor antibodies (TR Ab):
Graves disease
Thyroid peroxidase antibodies (TPO Ab):
Hashimoto disease
Thyroglobulin antibody (Tg Ab):
Hashimoto disease
This is the single most cost-effective investigation in the diagnosis of thyroid nodules
Fine-needle aspiration
It is the
best way to assess a nodule for malignancy
Fine-needle aspiration
The scan may help in the differential diagnosis of thyroid nodules and in causes of
hyperthyroidism.
Thyroid nuclear scan and imaging
A functioning nodule is said to be less likely to be malignant than a nonfunctioning
nodule (cyst, colloid nodule, haemorrhage are non-functioning; carcinoma is usually
non-functioning).
Thyroid nuclear scan and imaging
A thyroid ultrasound is usually more sensitive in the detection of thyroid nodules
Thyroid ultrasound
__________goitre may be diagnosed on ultrasound while the clinical impression may be that of
a solitary nodule
multinodular
_________________ may be used particularly to determine if there is significant compression
in the neck from a large multinodular goitre with retrosternal extension
CT scan of the thyroid
The term __________refers to the accumulation of mucopolysaccharide in subcutaneous
tissues.
myxoedema
Transient causes include subacute thyroiditis, postpartum thyroiditis and silent thyroiditis.
Hypothyroidism
Common causes of primary hypothyroidism include
radioactive iodine treatment, thyroid surgery
and Hashimoto thyroiditis
autoimmune disorders (e.g. autoimmune lymphocytic thyroiditis, rheumatoid arthritis, type 1 diabetes)
Hypothyroidism
cold intolerance tiredness/lethargy/somnolence physical slowing mental slowing depression huskiness of voice puffiness of face and eyes pallor loss of hair weight gain
Hypothyroidism
DxT tiredness + husky voice + cold intolerance →
myxoedema
sinus bradycardia delayed reflexes (normal muscular contraction, slow relaxation) coarse, dry and brittle hair thinning of outer third of eyebrows dry, cool skin skin pallor or yellowing obesity goitre
Hypothyroidism
________________, or lymphocytic thyroiditis, which is an autoimmune thyroiditis, is the
commonest cause of bilateral non-thyrotoxic goitre in Australia
Hashimoto thyroiditis
bilateral goitre
classically described as firm and rubbery
patients may be hypothyroid or euthyroid with a possible early period of
thyrotoxicosis
Diagnosis is confirmed by a strongly positive antithyroid microsomal antibody (TPO Ab) titre
and/or fine-needle aspiration cytology
Hashimoto thyroiditis
T4—subnormal
TSH—elevated (>10 is clear gland failure)
Laboratory diagnosis of hypothyroidism
If T4 is low and TSH is low or normal, consider pituitary dysfunction
secondary
hypothyroidism) or sick euthyroid syndrome
A raised TSH and T4 in normal range denotes
‘subclinical’ hypothyroidism
Serum cholesterol level elevated
Anaemia: usually normocytic; may be macrocytic
ECG: sinus bradycardia, low voltage, flat T waves
hypothyroidism
Confirm the diagnosis, provide appropriate patient education and refer the patient
where appropriate.
hypothyroidism
Levothyroxine (thyroxine) 50–100 mcg daily, increasing by 25 mcg up to 100–200 mcg if
required
hypothyroidism
Start with low doses (25–50 mcg daily) in >60 years and those with ischaemic heart
disease and 50–100 mcg in others
hypothyroidism
Monitor TSH levels 6–8 weeks at first. As euthyroidism is achieved, monitoring may be less
frequent (e.g. 2–3 months). When stable on optimum dose of T4, monitor every 2–3 years.
Thyroid medication
Rapid thyroxine replacement can precipitate myocardial infarction,
especially in the elderly
Ischaemic heart disease
Continue thyroxine during pregnancy; watch for hypothyroidism
(an increased dose of T4 is often required).
Pregnancy and postpartum
If euthyroid, can stop thyroxine for one week. If subthyroid, defer surgery
until euthyroid.
Elective surgery
Urgent hospitalisation under specialist care is required. Intensive treatment
is required, which may involve parenteral T4 or T3 as liothyronine or thyroxine by slow IV
injection.
Myxoedema coma
This is a life-threatening emergency with coma, extreme hyperthermia, areflexia and respiratory
depression. Precipitating factors include illness, infection, trauma and cold.
Myxoedema coma
Treatment is
supportive care, IV thyroxine or liothyronine and corticosteroids. Convert to oral T4 when stable.
Myxoedema coma
Misdiagnosing this serious condition leads to failure to thrive, retarded growth and poor school
performance.
Neonatal hypothyroidism
If untreated it leads to permanent intellectual damage (cretinism).
Neonatal hypothyroidism
The clinical
features of the newborn include coarse features, dry skin, supra-orbital oedema, jaundice, harsh
cry, slow feeding and umbilical hernia
Neonatal hypothyroidism
It is detected by routine neonatal heel-prick blood testing
Neonatal hypothyroidism
Thyroxine replacement should be started as soon as possible
Neonatal hypothyroidism
is also relatively common and may affect up to 2% of women, who are affected
four to five times more often than men
Hyperthyroidism (thyrotoxicosis)
Graves disease is the most common
cause, followed closely by nodular thyroid disease
Hyperthyroidism (thyrotoxicosis)
Autonomous functioning nodules/toxic adenoma
Hyperthyroidism (thyrotoxicosis)
Subacute thyroiditis (de Quervain thyroiditis)—viral origin
Hyperthyroidism (thyrotoxicosis)
Excessive intake of thyroid hormones—thyrotoxicosis factitia
Hyperthyroidism (thyrotoxicosis)
Heat intolerance
Sweating of hands
Muscle weakness
Weight loss despite normal or increased appetite
Emotional lability, especially anxiety, irritability
Palpitations
Frequent loose bowel motions
Hyperthyroidism (thyrotoxicosis)
DxT anxiety + weight loss + weakness →
thyrotoxicosis
agitated, restless patient warm and sweaty hands fine tremor (place paper on hands) goitre proximal myopathy hyperactive reflexes bounding peripheral pulse ± atrial fibrillation
Hyperthyroidism (thyrotoxicosis)
Lid retraction (small area of sclera seen above iris)
Lid lag
Exophthalmos
Ophthalmoplegia in severe cases
Hyperthyroidism (thyrotoxicosis)
T4 (and T3) elevated
TSH level suppressed
Radioisotope scan
Antithyroid peroxidase (TPO Ab)—often positive
Hyperthyroidism (thyrotoxicosis)
The isotope scan enables a diagnosis of Graves disease to be made when the scan shows uniform
increased uptake
Hyperthyroidism (thyrotoxicosis)
Increased irregular uptake would suggest a toxic multinodular goitre, while
there is poor or no uptake with de Quervain thyroiditis and thyrotoxicosis factitia
Hyperthyroidism (thyrotoxicosis)
Establish the precise cause before initiating treatment.
Refer to an endocrinologist to guide treatment.
Educate patients and emphasise the possibility of development of recurrent hyperthyroidism or
hypothyroidism and the need for lifelong monitoring.
Monitor for cardiovascular complications, osteoporosis and eye problems
Hyperthyroidism (thyrotoxicosis)
Radioactive iodine therapy (131I)
Thionamide antithyroid drugs (initial doses)
carbimazole 10–45 mg (o) daily starting with 10–20 mg in divided doses depending on
disease activity
or
propylthiouracil 200–600 mg (o) daily in divided doses or methimazole
Hyperthyroidism (thyrotoxicosis)
Adjunctive drugs
beta blockers (for symptoms in acute florid phase, e.g. propranolol 10–40 mg, 6 to 8
hourly); diltiazem or atenolol are alternatives
lithium carbonate (rarely used when there is intolerance to thionamides)
Lugol’s iodine: mainly used prior to surgery
Surgery
Hyperthyroidism (thyrotoxicosis)
Younger patients with small goitres and mild case—18-month course antithyroid drugs
Treatment (Graves disease)
Large goitres or moderate-to-severe cases—antithyroid drugs until euthyroid, then surgery or
Treatment (Graves disease)
Control hyperthyroidism with antithyroid drugs, then surgery or 131I. Long-term
remissions on antithyroid drugs in a toxic nodular goitre are rare.
Treatment (Graves disease)
Because there is chance of hematoma, so I think we should remove the ___________first
staples
Hypertension with hypokalemia
Could be primary hyper aldosteronism or secondary hyper aldosteronism
Primary is ___________ in which renin is decreased and 2’o is RTA in which renin is increased
conn’s synd
aldosterone is elevated. But doing plasma __________level will differentiate between primary hyperaldosteronism and renal artery stenosis.
renin
hyperaldosteronism, initial inx should be plasma ____________
aldosterone/renin ratio
________________ is the treatment of choice in any woman with Graves disease planning pregnancy or in the first trimester as carbimazole is associated with a rare embryopathy.
Propylthiouracil (PTU)
In the second and third trimesters, switching to ________________has been suggested due to the risk of fulminant hepatitis with PTU
carbimazole
_____________ with hypokalemic myopathy
Conn disease
Presence of High Bp and Hypokalemia
Conn’s disease
Initial and best plasma free _____________then urinary VMA
metanephrin
next -24 hour urinary metanephrines
Best - plasma metanephrines
pheochromocytoma
____________goiter is most common
Multinodular
on __________If GH not suppressed: this confirmes acromegaly
OGTT
conduct pituitary MRI to determine the source of _______________ later.
excess GH
the best initial test is level of IGF-1, most accurate is glucose suppression test .
acromegaly
but it’s was mentioned in class to increase the dose by 1.5 times
Pregnant woman with hypothyroidism
Wermer’s syndrome
Pitiuitary tumor
Parathyroid adenoma
Pancreas( gastrinoma, vipnoma, insulinoma)
Men1
is the most accurate test for acromegaly, but initial inx for acromegaly is IGF-1
Oral glucose tolerance
The best would be treating by __________________ and defer her pregnancy till cure which usually takes 6 months
radio active iodine
Primary hyperparathyroidism
Most common cause parathyroid adenoma
Next common cause _________________
parathyroid hyperplasia
first, then USG or radioactive thyroid scan depends on the TSH level
Thyroid function test
Pt has ___________blood culture
Best is duplex Doppler
fever
history of DVT, rule out DVT first; it can also be cellulitis, but even it’s cellulitis, blood culture is very limited and not routinely performed cuz ____________________
the positive rate is very low
-1.5-2.5 score
osteopenia
Ca and vit d
Hypothyroidism. Most common cause _________________
hashimoto
Most common ca is papillary but in this case as tsh is high it means it’s hypo and hushimoto is most common in hypothyroidism leading to ____________
goitre
here ACTH is releasing due to secondary cause, paraneoplastic syndrome vaiya, secreting Ectopic ACTH which is stimulating melanocyte (cause adrenal gland is fine itself) and causing _______________.
pigmentation
If zolendronic is in options that would be more gud one as __________is no more used
strontium
cant give alendronate as gerd.and not HRT and ca,vit D as already _____________
osteoporosis
Here pt has got GERD , so we can’t choose (A) Alendronate because it causes / aggravates ____________
oesophagitis
When you don’t find out the exact cause of bleeding, go for _____________
capsule endoscopy
amedex says in overt bleeding: melana, hematochezia, blood loss go for _______________
CT ANGIOGRAPHY
Occult bleeding : iron deficiency anemia and +fecal occlude blood test go for ____________
capsule
Capsule endo when __________positive
FOBt
100% sc as the cord was involved , we just wait cuz all theatres are busy ,, always cord involved means ________
SC
first give magnesium till you find a theatre then deliver by SC ,, the next after _________is SC
magnesium
Non specific back pain caused by lifting weights. Encourage activity and analgesics. ________________ here so no imaging is warranted
No red flags
Imaging is done if there are red flags e.g ________________ or cancer etc
neurological deficits
____________for pain and encourage normal activity
Analgesics
Nsaids not given in someone with _____________
nephropathy
Allopurinol is not started in acute gout. But if the patient has an acute attack of gout while on allopurinol, we can continue the drug. But ________________ will not help with the pain or the swelling.
increasing the dose
no change of dose of allupurinol during a cute stage , we can increase the dose of allupurionol to prevent _______________ not during the attack
acute attack
Acute episode + nephropathy
Steroid
dose of allopurinol should not be changed in acute attack._____________ u can
once it settles
Acute gout- ___________contraindicated
allopurinol
Acute on top chronic gout in impaired renal
answer : ___________> D
steroid
In patients with tumors less than 1 cm located in the appendix, ____________is the treatment of choice.
appendectomy
_____________________ is indicated for tumors larger than 2 cm, lymphatic invasion, lymph node involvement
More extensive surgery
Radiculopathy with no red flag signs, so advice simple _____________and review in 1-2 wk
analgesics
Bilateral loss of pain and sensation and hx of trauma favours ________________
syringomyelia
____________common in obese young females
Pseudomotor
MS . hence _______is the investigation
MRI
Mnd there will be no ___________
numbness
If inr less than 4.5 \_\_ reduce or skip next dose of warfarin # if inr more than \_\_\_\_\_\_ \_\_ *stop dose of warfarin. *Check inr after 24 hrs. *Resume warfarin at reduced dose depending on results.
4.5
Upon commencing antidepressants, patients with bipolar disorder should be
closely monitored for symptoms of mania, and if these emerge then
antidepressant therapy should be ______________.
discontinued
________ infarct will have effect on upper limb and face
And it won’t cause dysphagia and dysarthria rather will cause aphasia due to broca’s and wernicke’s
Mca
excluded as dysarthria does not occur with MCA infarction ___________occurs.
Dysphasia
_____________________.as both upper and lower motor neuron lesion sign is present
amyotropic lateral sclerosis
_________but ALS diagnosis is clinical
EMG
___________________ supportive only, if hs than add acyclovir
viral meningitis
supportive for viral meningitis, if it’s caused by herpes, then add ____________
aciclovir
history of infection, now presenting headache, fever, neuro focal symptoms, suspect _____________
brain abscess
________ presents with ascending bilateral weakness
GBS
Brain tumor will represent more features of raised icp over long period of time without ______________
fever
Pneumonia— _______cough sputum
fever
In ______________there is fever headache raised icp low immune
abscess
Eye opening to pain=2
Withdraws from pain=________
Incomprehensible sound=2
4
If patient is in ER we place a transcutaneous pacemaker, and refer to cardiology unit for ___________________________
permanent pacemaker placement.
Monte & ______ are preventors against its pathology
SCG
Depends upon age of pt if less than 5 _sodium cromiglycate
If 5 or more -______________
inhaled corticosteroids
Presbyacusis… sensorial neural deafness.. bilateral…in ______________ its unilateral
acoustic neuroma
First reduce displacement, then __________
wound debridement
bulging fontanelle is ___________for LP
contraindicated
LP is _____________in raised ICP
contraindicated
Hyperthyroidism is usually transient for 1–2 months, and follows a surge of thyroxine after a
viral-type illness, then followed by hypothyroidism for 4–6 months.
Subacute thyroiditis (de Quervain thyroiditis)
Symptoms include pain
and/or tenderness over the goitre (especially on swallowing), fever, ESR elevated,
Subacute thyroiditis (de Quervain thyroiditis
Release of thyroid hormone from autoimmune destruction of thyroid
Painless postpartum thyroiditis
Treat with beta blockers for symptoms and thyroxine for
hypothyroid phase.
Painless postpartum thyroiditis
Clinical features are marked anxiety, weight loss, weakness, proximal muscle weakness,
hyperpyrexia, tachycardia (>150 per minute), heart failure and arrhythmias
Thyroid crisis (thyroid storm)
It requires urgent intensive hospital management with antithyroid drugs; IV saline infusion, IV
corticosteroids, anti-heart failure and antiarrhythmia therapy, especially beta blockers.
Thyroid crisis (thyroid storm)
Thyroid enlargement may be diffuse or multinodular.
Goitre
Diffuse causes include physiological,
Graves disease, thyroiditis (Hashimoto or de Quervain), iodine deficiency or it can be hereditary.
Goitre
Investigations include TFTs, needle biopsy, ultrasound and CXR.
Goitre
defined as a discrete lesion on palpation and/or ultrasonography that is
distinct from the rest of the thyroid gland.
A thyroid nodule
True solitary nodule: adenoma, carcinoma (papillary or follicular)
Thyroid nodules
Ultrasound imaging
Fine-needle aspiration cytology
Thyroid function tests
Thyroid nodules
The main presentations are a painless nodule, a hard nodule in an enlarged gland or
lymphadenopathy. Papillary carcinoma is the most common malignancy
Thyroid carcinoma8
This often involves total thyroidectomy, ablative 131I treatment, thyroxine
replacement and follow-up with serum thyroglobulin measurements, 131I/thallium scanning and
neck ultrasound. Fine-needle aspiration is the investigation of choice.
Thyroid carcinoma8
Fine-needle aspiration is the investigation of choice
Thyroid carcinoma
These account for 10% of intracranial tumours and are invariably benign adenomas
Pituitary tumours
They can
present with hormone deficiencies, features of hypersecretory syndromes (e.g. prolactin, GH,
ACTH) or by local tumour mass symptoms (e.g. headache, visual field loss, seizures, cranial
nerve 3, 4, 6 palsy).
Pituitary tumours
The main causes (of many) are a pituitary adenoma (prolactinoma; micro- or macro),
pituitary stalk damage, drugs—such as antipsychotics, various antidepressants, metoclopramide,
cimetidine, oestrogens, opiates, marijuana—and physiological causes such as pregnancy and
breastfeeding.
Hyperprolactinaemia11
Symptoms common to males and females: reduced libido, subfertility, galactorrhoea (mainly
females)
Hyperprolactinaemia
Females: amenorrhoea/oligomenorrhoea
Males: erectile dysfunction, reduced facial hair
Hyperprolactinaemia
Serum prolactin and macroprolactin assays
Hyperprolactinaemia
Refer for management, which may include a dopamine agonist such as cabergoline or
bromocriptine, surgical resection (rarely necessary) or radiotherapy.
Hyperprolactinaemia
excessive growth of hands (increased glove size)
excessive growth of tissues (e.g. nose, lips, face)
excessive growth of feet (increased shoe size)
increased size of jaw and tongue; kyphosis
Acromegaly
general: weakness, sweating, headaches sexual changes, including amenorrhoea and loss of libido disruptive snoring (sleep apnoea)
Acromegaly
DxT nasal problems + fitting problems (e.g. rings, shoes) + sweating →
acromegaly
Plasma growth hormone excess
Elevated insulin-like growth factor 1 (IGF-1) (somatomedin)—the key test
X-ray skull and hands
MRI scanning pituitary
acromegaly
Consider associated impaired glucose tolerance/diabetes
Obtain old photographs (if possible).
Treatment options: transsphenoidal pituitary microsurgery, drugs and radiotherapy.
acromegaly
Impaired secretion of vasopressin (antidiuretic hormone) from the posterior pituitary leads to polyuria, nocturia and compensatory polydipsia, resulting in the passage of 3–20 L of dilute
urine per day.
diabetes insipidus
There are several causes of ________________, the commonest being
postoperative (hypothalamic-pituitary), which is usually transient only. Other causes of cranial
DI include tumours, infections and infiltrations
diabetes insipidus (DI)
In nephrogenic DI the kidney tubules are
insensitive to _____________.
vasopressin
_____________________________is caused by
cancer (e.g. lung, lymphomas, kidney, pancreas), pulmonary disorders, various intracranial
lesions and drugs such as carbamazepine and many antipsychotic agents
The syndrome of secretion of inappropriate antidiuretic hormone (SIADH)
Management of
SIADH is essentially ______________
fluid restriction
The treatment of _____ is desmopressin, usually given twice daily intranasally
DI
DxT weakness + polyuria + polydipsia →
diabetes insipidus
a history of postpartum haemorrhage or head injury
symptoms of hypothyroidism
symptoms of adrenal insufficiency
symptoms suggestive of a pituitary tumour
thin, wrinkled skin: ‘monkey face’
pale ‘alabaster’ skin/hairlessness
Hypopituitarism
Causes: pituitary adenoma, other parasellar tumours and inflammatory/infiltrative lesions.
Hypopituitarism
DxT (female): amenorrhoea + loss of axillary and pubic hair + breast
atrophy →
hypopituitarism
DxT (male): ↓ libido + impotence + loss of body hair →
hypopituitarism
Investigate with serum pituitary hormones, imaging (MRI) and triple stimulation test.
hypopituitarism
Treatment includes HRT, surgery or radiotherapy.
hypopituitarism
Zona ___________—mineral corticoids, especially aldosterone
glomerulosa
Zona ____________—glucocorticoids
fasciculata
Zona ____________—androgens, especially DHEA
reticularis
Catecholamines—epinepherine, norepinephrine
Medulla
deficiency of cortisol and aldosterone
chronic adrenal insufficiency (Addison disease)—
cortisol excess
Cushing syndrome
Autoimmune destruction of the adrenals is the most common cause; others are infection, e.g. TB
or fungal.
Addison disease
Lethargy/excessive fatigue/weakness
Anorexia and nausea
Diarrhoea/abdominal pain
Weight loss
Dizziness/funny turns, syncope: hypoglycaemia (rare); postural hypotension (common)
Hyperpigmentation, especially mucous membranes of mouth and hard palate, skin creases of
hands
Addison disease
remains undiagnosed, wasting leading to death may occur. Severe
dehydration can be a feature.
Addison disease
DxT fatigue + a/n/v + abdominal pain (± skin discolouration)→
Addison
disease
Elevated serum potassium, low serum sodium
Low plasma cortisol level (fails to respond to synthetic adrenocorticotropic hormone [ACTH])
The short synacthen stimulation test is the definitive test
Consider adrenal autoantibodies and imaging? calcification of adrenals
Addison
disease
Treatment: corticosteroid replacement—hydrocortisone/fludrocortisone acetate, other options
Addison
disease
Age is important
Old age cystoscopy
And usg done according to protocol ua should be done prior __________
usg
An ________________ develops because of an inability to increase cortisol in response to stress,
which may include intercurrent infection, surgery or trauma.
Addisonian crisis
Nausea and vomiting
Acute abdominal pain
Severe hypotension progressing to shock
Weakness, drowsiness progressing to coma
Addisonian crisis
Establish IV line with IV fluids
Hydrocortisone sodium succinate 100 mg IV initially and 50–100 mg 4–6 hourly until stable
Arrange urgent hospital admission
Addisonian crisis
iatrogenic—chronic corticosteroid administration
pituitary ACTH excess (Cushing disease)
bilateral adrenal hyperplasia
adrenal tumour (adenoma, adenocarcinoma)
ectopic ACTH or (rarely) corticotrophin-releasing hormone (CRH) from non-endocrine
tumours (e.g. oat cell carcinoma of lung)
The clinical features are caused by the effects of excess cortisol and/or adrenal androgens
Cushing syndrome8
Proximal muscle wasting and weakness Central obesity, buffalo hump on neck Cushing facies: plethora, moon face, acne Weakness Hirsutism Abdominal striae Thin skin, easy bruising Hypertension Hyperglycaemia (30%) Menstrual changes (e.g. amenorrhoea) Osteoporosis Psychiatric changes
Cushing syndrome8
DxT plethoric moon face + thin extremities + muscle weakness →
Cushing syndrome
Cortisol excess (plasma or 24-hour urinary cortisol)
Dexamethasone suppression test
Late night salivary cortisol (2 measurements)
Inferior petrosal sinus sampling
Serum ACTH
Radiological localisation: MRI for ACTH-producing pituitary tumours; CT scanning for
adrenal tumours
Cushing syndrome
transsphenoidal excision of pituitary tumour. Pharmacological blockade of corticosteroid
production may be necessary, ketoconazole (o) is first line.
Cushing syndrome
Most commonly due to an adrenal adenoma.
Primary hyperaldosteronism
Usually asymptomatic and hypertensive but any symptoms are features of hypokalaemia
Conn syndrome
weakness, headaches palpitations cramps paraesthesia polyuria and polydipsia
Conn syndrome
Aldosterone (serum and urine) ↑ Plasma renin ↓ Plasma aldosterone to renin activity ratio Na ↑, K ↓, alkalosis Imaging (MRI or CT scan) of adrenals
Conn syndrome
Refer for treatment including possible surgery to excise adenoma. prepare for
surgery.
Conn syndrome
A dangerous tumour of the adrenal medulla. Clinical features are paroxysms or spells of: anxiety hypertension headache (throbbing); tremor sweating palpitations pallor/skin blanching rising sensation of tightness in upper chest and throat (angina can occur)
Phaeochromocytoma
DxT episodic headache + sweating + tachycardia →
phaeochromocytoma
Series of three 24-hour free catecholamines ↑ VMA
Abdominal CT or MRI scan (both highly sensitive)
phaeochromocytoma
Excise tumour, cover with alpha and beta blockers
phaeochromocytoma
condition with 21-hydroxylase deficiency being the most common of several forms.
Congenital adrenal hyperplasia (adrenogenital
syndrome)6,8
There is inadequate synthesis of cortisol and aldosterone with increased androgenisation
Congenital adrenal hyperplasia (adrenogenital
syndrome)
Congenital adrenal hyperplasia (adrenogenital
syndrome)
may present with failure to thrive or vomiting and
dehydration (SLS)
Most of those detected by abdominal imaging are benign and termed ‘incidentalomas’ but serious tumours include adrenal carcinoma, phaeochromocytoma, neuroblastoma, glucocorticoid
or a mineralocorticoid secreting tumour.
Adrenal tumours
Rule: tumours >4 cm require thorough assessment as malignant tumours are large.
Excision is usually advisable.
Adrenal tumours9
These are adrenal tumours ≥1 cm. Most are benign and non-functioning. An important issue is
malignancy, and if this is the case, whether it is primary, secondary or functional (hormone
secreting).
Incidentalomas
Investigations to consider include electrolytes, aldosterone/renin ratio, catecholamines,
testosterone, DHEAs, dexamethasone suppression test, CT scan. Surgical excision should be
considered under specialist guidance.
Incidentalomas
Suspect hypercalcaemia if there is weakness, tiredness, malaise, anorexia, nausea or vomiting,
abdominal pain, loin pain, constipation, thirst, fever, polyuria, drowsiness, dizziness, personality
changes, muscle aches and pains, visual disturbances
Hypercalcaemia
Measure urea and electrolytes (especially
calcium), creatinine, albumin.
Hypercalcaemia
Primary hyperparathyroidism, familial hypercalciuric hypercalcaemia and neoplasia, especially
carcinoma of lung and breast (with metastases to bone), account for over 90% of cases.
Hypercalcaemia
Other
causes include Paget disease, Williams syndrome, prolonged immobilisation, dehydration,
sarcoidosis and milk-alkali syndrome.
Hypercalcaemia
Investigations include ESR, serum parathyroid hormone
(N: 1.0–7 pmol/L), serum ACE levels, serum alkaline phosphatase, chest X-ray, Sestamibi scan
and bone scan. Requires specialist referral.
Hypercalcaemia
DxT weakness + constipation + polyuria →
Hypercalcaemia
DxT cramps + confusion + tetany →
hypocalcaemia
is caused by an excessive secretion of parathyroid hormone and is usually
due to a parathyroid adenoma.
Primary hyperparathyroidism
Classic mnemonic: bones, moans, stones, abdominal groans
Primary hyperparathyroidism
Exclusion of other causes of hypercalcaemia
Serum parathyroid hormone (elevated)
TC-99m Sestamibi scan to detect tumour
Primary hyperparathyroidism
Refer for possible surgical management
Primary hyperparathyroidism
Most appropriate is sputum for _________
AFB
______ is for latent TB
IGRA
next _____________ ,most appropriate sputum culture
chest x ray
dx NSTEMI with AF (which has occured as a complication of MI)
____________will help to deal with both NSTEMI and AF(due to non valvular lesion)
Antiplatelet
Inverted T wave means _______
PE
Causes include parathyroid injury, autoimmune hyperparathyroidism, severe vitamin D
deficiency and neonates of mothers with hypercalcaemia.
Hypocalcaemia
This usually presents with tetany or
more generalised neuromuscular hyperexcitability and neuropsychiatric manifestations
Hypocalcaemia
The
sensory equivalents are paraesthesia in the hands, feet and around the mouth (distinguish from
tetany seen in the respiratory alkalosis of hyperventilation).
Hypocalcaemia
There may be seizures and cramps.
The diagnosis is by measurement of serum total calcium concentration in relation to serum
albumin (s. calcium <2.10 mmol/L).
Hypocalcaemia
Two important signs are:
Trousseau sign: occlusion of the brachial artery with BP cuff precipitates carpopedal spasm
(wrist flexion and fingers drawn together)
Chvostek sign: tapping over parotid (facial nerve) causes twitching in facial muscles
Hypocalcaemia
Treatment involves careful adjustments in dosage of calcitriol and calcium to correct
hypocalcaemia and avoid hypercalcaemia and hypercalciuria (the latter may lead to kidney
impairment).
Hypocalcaemia
is the most common cause of hypocalcaemia. Causes include postoperative
thyroidectomy and parathyroidectomy, congenital deficiency (DiGeorge syndrome) and
idiopathic (autoimmune) hypoparathyroidism.
Hypoparathyroidism
The main features are neuromuscular
hyperexcitability, tetany and neuropsychiatric manifestations.
Hypoparathyroidism
Water depletion (e.g. diabetes insipidus)
Water and sodium depletion (e.g. diarrhoea)
Corticosteroid excess (e.g. Cushing syndrome, Conn syndrome)
Iatrogenic: excess IV hypertonic Na solutions
Hypernatraemia Na+ >145 mmol/L
Thirst, confusion, lethargy, weakness, irritability, oliguria
Orthostatic hypotension
Muscle twitching or cramps
Signs of dehydration
Severe: seizures, delirium, hyperthermia, coma
Hypernatraemia Na+ >145 mmol/L
Water retention (e.g. CCF, hypoalbuminaemia)
Kidney failure to conserve salt (e.g. nephritis, diabetes mellitus, Addison disease)
Gastrointestinal loss of Na+ (e.g. vomiting, diarrhoea)
Drugs (e.g. diuretic excess, ACE inhibitors)
Hyponatraemia Na+ <135 mmol/L
Asymptomatic when mild
Anorexia, nausea, lethargy, confusion, headache, ataxia, mental changes (e.g. in personality)
Severe: convulsions, coma, death
Hyponatraemia Na+ <135 mmol/L
The first sign of ________________ (e.g. >6) may be a cardiac arrest. A medical emergency if >6.5.
hyperkalaemia
Oliguria, kidney failure
Acidosis (especially metabolic)
Mineralocorticoid deficiency: Addison disease, aldosterone antagonists
Excessive intake of K+ (e.g. IV fluids with K)
Drugs (e.g. ACE inhibitors, NSAIDs, suxamethonium)
Consider artefact, e.g. haemolysed sample
Hyperkalaemia K+ >5.5 mmol/L
Malaise, muscle weakness, flaccid paralysis (rare)
May be asymptomatic until cardiac toxicity
May cause cardiac arrest—asystole or fibrillation
ECG: peaked T waves, ↓ QT, ↑ PR interval → arrhythmias
Hyperkalaemia K+ >5.5 mmol/L
If <2.5 severe symptoms, seek urgent attention.
Hypokalaemia K+ <3.5 mmol/L
Kidney disease
Gastrointestinal loss: vomiting, diarrhoea
Alkalosis
Mineralocorticoid excess
Loss of extracellular fluid to intracellular (e.g. burns, other trauma, pyloric stenosis)
Drugs (e.g. diuretics: frusemide, thiazides), purgatives, liquorice abuse
Reduced intake of K+
Hypokalaemia K+ <3.5 mmol/L
Lethargy, muscle weakness and cramps, mental lethargy and confusion
Severe flaccid paralysis, tetany, coma
ECG: prominent U waves, depressed ST segment, T waves, arrhythmias
Hypokalaemia K+ <3.5 mmol/L
neck pain neck stiffness headache ‘migraine’-like headache facial pain arm pain (referred or radicular) myelopathy (sensory and motor changes in arms and legs) ipsilateral sensory changes of scalp ear pain (peri-auricular) scapular pain anterior chest pain torticollis dizziness/vertigo visual dysfunction
Clinical problems of cervical spinal origin
The most common pathogens are the bacteria Escherichia coli (E. coli),
Staphylococcus saprophyticus, Proteus, Klebsiella and Enterococcus spp.
Urinary tract infection (UTI)
Of great concern is the
worldwide emergence of multidrug-resistant strains of E. coli.
Urinary tract infection (UTI)
The morbidity of urinary
infections in both children and adults is well known but it is vital to recognise the potential for
progressive kidney damage, ending in chronic kidney failure.
Urinary tract infection (UTI)
The main task in the prevention of
chronic pyelonephritis is the early identification of patients with additional factors, such as reflux
or obstruction, which could lead to progressive kidney damage.
Urinary tract infection (UTI)
frequency, dysuria and
loin pain.
Urinary tract infection (UTI)
Screening of asymptomatic women has shown that about 5% have bacterial
UTI.
Urinary tract infection (UTI)
UTIs are largely caused by organisms from the bowel that colonise the perineum
and reach the bladder via the urethra.
Urinary tract infection (UTI)
In many young women, infections are
precipitated by sexual intercourse. Ascending infection accounts for 93% of UTIs
Urinary tract infection (UTI)
Always consider any family history of urinary tract abnormalities
Urinary tract infection (UTI)
Infants less than 6 months old with a UTI have a significant risk of bacteraemia
Urinary tract infection (UTI)
Female sex
Sexual intercourse
Diabetes mellitus
Vesicoureteral reflux (VUR)
Urinary tract obstruction/malformation/stricture
Pregnancy
Immunosuppression
Menopause
Diaphragm contraception or spermicidal exposure
Instrumentation
Bladder polyps, carcinoma, diverticula, stones
Urinary tract infection (UTI)
Sterile pyuria
Urinary tract infection (UTI)
contamination of poorly collected urine specimens
urinary infections being treated by antibiotics, i.e. inadequately treated infections
genital infections (e.g. chlamydia urethritis)
analgesic nephropathy
staghorn calculi
other kidney disorders (e.g. polycystic kidney)
bladder tumours
tuberculosis
chemical cystitis (e.g. cytotoxic therapy)
appendicitis
Sterile pyuria
This is defined as the presence of a significant growth of bacteria in the urine (concentration
>108 colony forming units/L), which has not produced symptoms requiring consultation
Asymptomatic bacteriuria
pregnant women because of the risk of pyelonephritis and pregnancy complications (see
CHAPTER 100 )
patients before elective urological procedures (e.g. TURP)
Asymptomatic bacteriuria
the presence of frequency, dysuria and loin pain alone or in combination,
together with a significant growth of organisms on urine culture
symptomatic bacteriuria
If not pregnant —-> xray pelvis
If pregnant —>_____
usg
debridement comes first then ________
reduction
______________are teratogenic we avoid in young age
Bisphosphonate
ok that means no bisphosphonates before __________________
menupause
reproductive age group avoid ____
BSP
Always correct __________ before bispoh
vit d
First correct vit D, then _________
alendronate
Tophaceous gout ….________
prednisolone
Pt. is already on Aspirin prophylaxis and developed stroke. CEA is recommended in symptomatic stenosis of >50% and asymptomatic stenosis of __________
> 70%.
In alcohol aST to alt ratio _____
2:1
temperature is 38, child’s age is 4. It could be perthes tenosynovitis or septic arthritis based on age, I chose septic arthritis coz of ___________
fever
______________ in stable Abdominal trauma
CT abdomen
fever and ryt iliac fossa pain >__________
abscess
In a case of infertility,always do ________analysis first
semen
Diagnosis here is ________if timolol and pilocarpine in option will choose that from these options
galucoma
Suspend breast feeding for 24 hour than checkin __________
bilirubin
If conjugated bilirubin is >10% of total bilirubin from the options given its
____________
Biliary atresia
If we stop warfarin or giving vit K it will take about ___days time
4
if emergency Sx give ffp/prothrombin concetrate (B)…if Sx can be delayed above method of stopping or reversing the action of effect of ________________
anticoagulant
apple core lesion is significant for colon ca here patient having obstructive symptoms so if no options of Prothrombin then we will go with ____
ffp
symptoms of acute abdomen, so we will do __________ASAP
intervention
if history of snake bite present and even no fangs sign present utill unless always consider snake is poisonus so reffer to _________________
tertitory hospital
yes dont give ____________untill collapse aur cardiac arrest inr more than 1.3 opthalmoplegia aur paralysis events
antivenom
___________to find out gross hematuria cause
Cystoscopy
gross haematuria in less than 55 yrs initial ________then CT scan to rule out renal CA..
UA
gross hematuria in middle aged ,initial ure then ____to rule out rcc
ct
investigation for ______________ should be done frst as chest pain and travel h/o are present
pul. Embolism
early syphilis-benz penicilin single dose IM, or doxycyline incase of pen allergy. should contact all sexual partners in past 3 month. ________________ at 3 months, 3 monthly
repeat serology
Asymptomatic pts with more than 70% stenosis have modest risk and should be treated ____________
conservatively
carotid endarterectomy indicated when stenosis is __________ with symptoms.
75%
Sjogren > mx is supportive
complaint for this pt is dry eyes so
C . ______________
artificial eye drop
_________for mild pneumonia in children
Amox
after excluding adjustment disorder- major stress or absent, autism excluded coz- _____________.
speech normal
Post operative confusion,always think about hypoxia 1st.so pulse oxymetry.__________ should be more appropriate
ABG
because warfarin should be stopped _____________ before elective surgry
4-5 days
Intrahepatic cholestasis of pregnancy-develop in late pregnancy ,no rash ,worse itching at night,____________typically develops 1-4 weeks after onset of pruritus
jaundice
Scabies must have burrows
Pruritus in 3rd trimester goes in favour of ______________
cholestasis of pregnancy
zolendronic acid is generally _____
iv
______________( a common side effect after covid vaccine) especially in below 50 yrs and younger age groups.
myocarditis
_______________ can elevated in PE and myocarditis
Troponin
no fetal heart sounds, so to deliver the dead baby-do ___________
amniotomy
apple core appearance _________
CA colon
IV antibiotics ( for all infants below 3 months).
Urinary tract infection
Iv antibiotics then Usg
urinary tract infection (UTI) in young children
paroxetine contraindicated in ___________
pregnancy
Patient takung ACEI since long withiut any angioneurosis …. & amoxycillin since 2 days &s/s after amoxy angioneuresis appeared …so I will blame ___________
Amoxy
Polymyalgia Rheumatica with Giantcell arteritis.
__________would be better as next step.
ESR
____________because its excercise induced asthma, Ref JM 7the edition, still check the latest 8th edition once
salbutamol
initially SABA given , if not working than we choose __________
SCG or ICS
it shuld be ______________coin like apperaence is due to hypercalcemia leads to calcification which causes coin like asralra are present due to pul htn whixh is present in all others so b
sarcidiosis
Inflammation of the bladder and/or urethra is associated with dysuria (pain or scalding with
micturition) and/or urinary frequency
Acute cystitis (dysuria-frequency syndrome)
Acute bacterial infection of the kidney produces loin pain and constitutional upset, with fever,
rigors, nausea and sometimes vomiting
Acute pyelonephritis1
The symptoms of acute cystitis are often also present.
The differential diagnosis includes causes of the acute abdomen, such as appendicitis,
cholecystitis and acute tubal or ovarian diseases. The presence of pyuria and absence of
rebound tenderness are helpful in distinction.
Acute pyelonephritis1
This is cystitis occurring in the uninstrumented non-pregnant female without structural or
neurological abnormalities. Acute infection is most commonly caused by E. coli and
Staphylococcus saprophyticus.
Uncomplicated urinary tract infection
This is associated with anatomical or functional abnormalities (e.g. diabetes, urinary calculi) that increase the risk of serious complications or treatment failure.
Complicated urinary tract infection5
The laboratory diagnosis of ___________ depends on careful collection, examination and culture of urine
UTI
It is not mandatory for non-pregnant
women with suspected cystitis when empirical treatment may be appropriate.
The laboratory diagnosis of UTI
It is best to collect the first urine passed in the morning, when it is highly concentrated and any
bacteria have been incubated in the bladder overnight
Collection of urine1
Preferably the urine should be taken to the
laboratory immediately, but it can be stored for up to 24 hours at 4°C to prevent bacterial
multiplication.
Collection of urine1
Clean catch midstream specimen of urine (MSU). This is best collected from a full bladder, to
allow at least 100 mL of urine to be passed before collection of the MSU
Collection of urine1
Catheter specimen of urine (CSU). In women who have difficulty with collecting an
uncontaminated MSU (as is commonly the case in the elderly, the infirm and the grossly
obese), a short open-ended catheter can be inserted and a specimen collected after 200 mL has
flushed the catheter.
Collection of urine1
Suprapubic aspirate of urine (SPA). This is an extremely reliable way to detect bacteriuria in
neonates and in patients where UTI is suspected but cannot be confirmed because of low
colony counts or contamination in an MSU.
Collection of urine
All children with a UTI require a urine specimen. It is diagnosed by significant growth on MSU,
CSU, MCC or SPA.
Urine specimen collection in children
____________ of urinary leucocytes or nitrite are suggestive of UTI and may be an
indication for empirical treatment if symptomatic
Dipstick findings
The urine is examined under a microscope to detect pyuria (more than 10 pus cells—WBCs—per
high-powered field) but should be examined in a counting chamber to calculate the number of
WBCs/mL of urine.
Microscopic examination
The nature and number of organisms present in the urine are the most useful indicators of UTI
Culture of the urine
Most common are enteric organisms. E. coli (especially) and Staphylococcus saprophyticus
are responsible for over 90% of UTIs, with other Gram-negative organisms (Klebsiella sp. and
Proteus sp.), Enterococcus sp. and Gram-positive cocci (Streptococcus faecalis and other
staphylococci) also responsible.
Culture of the urine
Infections due to organisms other than E. coli (e.g. Pseudomonas sp.) are suggestive of an
underlying kidney tract abnormality.
Culture of the urine
If >105 colony forming units (cfu) per mL of bacteria are present in an MSU, it is highly likely
that the patient has a UTI.
Culture of the urine
On the other hand, it is most important to realise that up to 30% of women with acute bacterial
cystitis have less than 105 cfu/mL in the MSU. For this reason, it is reasonable to treat women
with dysuria and frequency even if they have <105 cfu/mL of organisms in an MSU
Culture of the urine
Significant levels for UTI:
Microscopy: WBC >10 per mL (10 × 106/L)
Culture: counts >105 cfu/mL (108/L)
Summary: MCU (microscopy and culture urine)
Keep yourself rested.
Drink a lot of fluid: 2–3 cups of water at first and then 1 cup every 30 minutes.
Try to empty your bladder completely each time.
Use analgesics such as paracetamol for pain.
Make the urine alkaline by taking sodium citrotartrate (4 g orally 6 hourly)—not if taking
nitrofurantoin.
Acute uncomplicated cystitis
Urine dipstick Urine microscopy and culture First-line antibiotics—trimethoprim or cephalexin Alkaliniser for severe dysuria High fluid intake Check sensitivity—leave or change ABs
UTI: basic management
Use for 10 days in women with known urinary tract abnormality:
trimethoprim 300 mg (o) daily for 3 days (first choice)
or
cephalexin 500 mg (o) 12 hourly for 5 days
or
amoxicillin + clavulanate 500/125 mg (o) 12 hourly for 5 days
or
nitrofurantoin 100 mg (o) 6 hourly for 5 days
or
norfloxacin 400 mg (o) 12 hourly for 3 days (if resistance to above agents proven and if
susceptible, Caution about tendinopathy and tendon rupture.)
No follow-up is required if women remain asymptomatic after treatment
Treatment (non-pregnant women)3,7
Avoid using important quinolones—norfloxacin or ciprofloxacin—as first-line agents.
Cotrimoxazole is not first line because it has no advantage over trimethoprim and has more
side effects.
Treatment failures are usually due to a resistant organism or an underlying
Treatment (non-pregnant women)3,7
Treatment of acute cystitis (empirical):
cephalexin 500 mg (o) 12 hourly for 5 days
or
nitrofurantoin 100 mg (o) 6 hourly for 5 days
or
amoxicillin + clavulanate 500/125 mg (o) 12 hourly for 5 days
Repeat MCU 1–2 weeks after completion.
Pregnant women8,9
UTI in pregnant women requires careful surveillance
Consider the cause (see risk factors above).
Investigations: MCU, U&E, ultrasound.
Treatment (empirical, while awaiting investigation):
trimethoprim 300 mg (o) daily for 7 days
or
cephalexin 500 mg (o) 12 hourly for 7 days
or
amoxicillin + clavulanate 500/125 mg (o) 12 hourly for 7 days
or
nitrofurantoin 100 mg (o) 6 hourly for 7 days
or
norfloxacin 400mg (o) 12 hourly for 7 days
Note: All males with a UTI should be investigated to exclude an underlying abnormality, e.g
Adult males7
_______________ is a treatable condition that most commonly happens in uncircumcised males.
Balanitis
____________ specificity is high in SLE
Anti-dsDNA
combination of 3rd gen cephalosporins+azithro is needed to cover resident ________________even in the absence of Chlamydia
gonorrhoea
Thiamine infusion should be given before _______________
dextrose infusion
patient under 55 highly risk for CPTA scan
V/Q
Suspected Ca. Prostate. Initial: DRE/PSA - TRUS guided biopsy. ___________indicated in fracture spine d/t mets.
MRI
___________works similar to terlipressin as vasoactive agent. Next is to scope to r/o variceal bleed
Octreotide
salt restriction - frst lifestyle modification for all ___________pts
ascites
first we do urinalysis and then creatinine and urine cytology is considered in _____________
hematuria
DRE -> UA -> sCr -> _________
US KUB
__________ to see soft tissues damage like ligaments or tendon
MRI
Patients with a level 2.5 – 4 mEq/L should have hemodialysis if they have severe symptoms such as neurologic deterioration, hemodynamic instability, acute kidney injury or ventricular arrhythmia.
lithium
Febeile convulsion -___________
no need anything
Patients presenting with acute neurological ischaemia or amaurosis initial aspirin and the best ________
surgery
bcoz risk of transmission to baby less even if symptomatic.do serology once pt is ___________
symptomatic
Urine microscopy and culture is mandatory. Mild cases can be treated with oral therapy alone for
a longer duration than the recommended course for uncomplicated cystitis
Acute pyelonephritis
For empirical
therapy, use amoxicillin/clavulanate (875/125 mg (o) 12 hourly) for 10–14 days or ciprofloxacin
(500 mg (o) 12 hourly) for 7 days.
Acute pyelonephritis
For severe infection with suspected septicaemia, admit to hospital and treat initially with
parenteral antibiotics after taking urine for microscopy and culture, and blood for culture. It is a
particular problem if acquired in pregnancy.
Acute pyelonephritis
amoxicillin/ampicillin 2g IV 6 hourly
plus
gentamicin 4–6 mg/kg/day, single daily IV dose
Follow with oral therapy for a total of 14 days.
Drug levels of gentamicin require monitoring. Gentamicin can be replaced with IV cefotaxime or
ceftriaxone.
Acute pyelonephritis
Consider investigation for an underlying urinary tract abnormality, especially in men and in
patients that remain unwell after 72 hours of treatment
Acute pyelonephritis
Persistent (chronic) UTIs indicate that the organism
is resistant to the antimicrobial agents employed or that there is an underlying abnormality such
as a kidney stone or a chronically infected prostate in the male patient
Recurrent or chronic urinary tract infections
Treat an acute episode of recurrent UTI as for cystitis or pyelonephritis
Recurrent or chronic urinary tract infections
__________ in infants and very young children is often kidney in nature and may be associated with
generalised symptoms such as fever, vomiting, diarrhoea and failure to thrive.
UTI
Causes of ‘smelly’ urine in children are urinary infection and/or ___________,
especially with gastroenteritis
dehydration
In a girl or boy (rare
presentation) with symptoms of dysuria and frequency, an underlying abnormality may be
present with a reported incidence of __________________ as high as 40% and scarred
kidneys (reflux nephropathy) in 27%
vesicoureteric reflux (VUR)
Thus the early detection of children with VUR and control of recurrent kidney infection could
prevent the development of scars, hypertension and ____________________
chronic kidney failure
Radiological
investigation of children with UTIs shows normal kidneys in approximately 66% and _____________in
approximately 33%.
reflux
<1 year—ultrasound; consider ___________________ if US
abnormal
micturating cystourethrogram (MCUG)
Treat empirically in children one month or more while awaiting culture results. If less than one
month, treatment with IV antibiotics is advisable.
Treatment (mild infection in children)
Treatment should be taken orally for 3–7 days:
trimethoprim 4 mg/kg (max. 150 mg) bd (suspension is 50 mg/5 mL)
or
cephalexin 12.5 mg/kg (max. 500 mg) bd
or
trimethoprim/sulfamethoxazole 4/20 mg/kg (max. 160/800 mg) bd
Treatment (mild infection in children)
For empirical treatment in those ≥12 months who appear septic or are vomiting, and
infants <12 months, give gentamicin IV + amoxi/ampicillin IV.
Severe infections in children
can affect women of any age, it is more prevalent in girls between 2 and
8 years. It can be confused with a UTI where there is dysuria, which is a common symptom in
this type of dermatitis
Vulvovaginitis
Consider bacterial ____________in men with few urinary symptoms (frequency, urgency and
dysuria), flu-like illness, fever, low backache and perineal pain
prostatitis
The prostate is exquisitely tender
on rectal examination. For mild to moderate infection, give trimethoprim
prostatitis
3-day course of trimethoprim 300 mg daily is a suitable first choice for acute
uncomplicated __________in women.
cystitis
In males the prostate is the most common source of ___________UTI
recurrent
UTI is commonly associated with __________________
microscopic haematuria
The six most common causes of death from cancer in
Australia are cancer of the lung, colorectal, lymphoma, ____________, breast and pancreas
prostate
Lump or mass, especially neck or stomach Unusual bleeding, bruising or rash White eye Persistent nausea and vomiting Constant illness Constant tiredness and/or pallor Headache, especially early morning Continuing unexplained weight loss Recurrent or persistent fever Changes which occur suddenly and persist
Red flags for childhood cancer
the Philadelphia chromosome for _________________
chronic myeloid leukaemia
(elevated in trophoblastic tumours and germ cell
neoplasms of the testes and ovaries)
human chorionic gonadotrophin (HCG)
Testicular cancer (non-seminomatous)
Hepatocellular carcinoma
GIT cancers with and without liver metastases
AFP
Ovarian cancer (non-mucinous), breast
CA-125
CA-15-3 ___________
Breast
CA-19-9 ____________
Pancreas, colon, ovary
CEA
Colorectal cancer
Pancreatic, breast, lung, small intestine, stomach,
ovaries
PSA*
Prostate cancer
hCG
Choriocarcinoma
Hydatidiform mole
Trophoblastic diseases
DxT malaise + weight loss + cough →
lung cancer
________ cancer is one of the most common cancers in
Australia in terms of both incidence and death, accounting for at least 20% of cancer deaths
lung
___________________ include hypercalcaemia, Cushing syndrome, carcinoid syndrome,
dermatomyositis, visual loss progressing to blindness from retinal degeneration, cerebellar
degeneration and encephalitis.
The paraneoplastic syndromes
haematuria (60%)
loin pain (40%)
loin mass (palpable kidney)
signs of anaemia
left supraclavicular lymphadenopathy (Virchow node)
varicocele (left side)
hypertension
symptoms of metastases (to liver, lungs, brain, bones): respiratory symptoms, neurological
symptoms and signs, bone pain, pathological fracture (vertebral collapse)
urinalysis—67% positive for blood
Kidney cell cancer
Diagnosis is confirmed by imaging, e.g. CT/MRI.
Refer for radical nephrectomy.
Kidney cell cancer
DxT haematuria + loin pain + palpable kidney mass →
kidney cell cancer
is responsible for 10% of all childhood malignancies.
Wilms tumour (nephroblastoma)
Clinical features include:4 peak incidence 2–3 years general symptoms of neoplasia palpable mass 80% abdominal pain 30% haematuria 25%
Wilms tumour (nephroblastoma)
Diagnosis is confirmed by urine cytology, ultrasound or CT/MRI scan.
Wilms tumour (nephroblastoma)
Early diagnosis with nephrectomy and chemotherapy leads to a very favourable prognosis (90%
5-year survival).
Wilms tumour (nephroblastoma)
DxT haematuria + abdominal mass + malaise →
Wilms tumour (nephroblastoma)
Probably the most common cancer in infancy (usually <2–3 years). 90% present under
5 years.
Neuroblastoma7
It is a tumour of the adrenal medulla (50%) and sympathetic nervous system, especially
retroperitoneal neural tissue in abdomen (30%) but also in chest and neck
Neuroblastoma7
fatigue, anorexia, nausea, fever
abdominal pain, abdominal swelling
anaemia and weight loss
May present with metastases, e.g. bone pain.
Diagnosis: CT scan, skeletal survey; biopsy required
Neuroblastoma7
Treatment is based on surgical resection then chemotherapy ± localised radiotherapy. Good
response to therapy especially if <18 months.
Neuroblastoma7
has the highest mortality rate of all the gynaecological cancers because the
majority of patients present in the late stage of the disease.
Ovarian cancer8
It is responsible for 5% of deaths in
females.
Ovarian cancer8
It is usually asymptomatic prior to the development of metastases
Ovarian cancer8
Epithelial tumours
are the most common of malignant ovarian tumours
Ovarian cancer
They are uncommon under 40 years of age
and the average age of diagnosis is 50 years
Ovarian cancer
The most common presentation is abdominal swelling (mass and/or ascites), abdominal bloating
or discomfort.
Ovarian cancer
Non-specific symptoms, which may be present for a long time before diagnosis,
include abnormal uterine bleeding, urinary frequency, weight loss, abdominal discomfort,
reduced capacity for food, diarrhoea, anorexia, nausea and vomiting
Ovarian cancer
Diagnosis is supported by pelvic ultrasound and serum CA-125 tumour marker
Ovarian cancer
A new test is the
OvPlex serum test, which measures five serum markers.
Ovarian cancer
DxT abdominal discomfort + anorexia + abdominal bloating/distension →
Ovarian cancer
Malignancy in this area is more likely to present with symptoms of anaemia without the patient
noting obvious blood in the faeces or alteration of bowel habit
Carcinoma of caecum and ascending colon5
DxT blood in stools + abdominal discomfort + change in bowel habit →
Carcinoma of caecum and ascending colon
This is another cancer with vague symptoms, metastasising early and late presentation
Pancreatic cancer
It is
mainly ductal adenocarcinoma, which, if in the head of the pancreas, presents with painless
jaundice and if in the body and/or tail presents with epigastric pain radiating to the back, relieved
by sitting forward
Pancreatic cancer
DxT jaundice + anorexia + abdominal discomfort/pain →
Pancreatic cancer
are caused by an acquired malignant transformation in the stem cell in the
haemopoietic system.
The leukaemias
The usual age range for acute lymphatic leukaemia (ALL) is 2–10 years with a second peak at
about ______________.
40 years
Symptoms of anaemia
Susceptibility to infection (e.g. sore throat, mouth ulceration, chest infection)
Easy bruising and bleeding (e.g. epistaxis, gingival bleeding)
Bone pain (notably in children with ALL) and joint pain
Symptoms due to infiltration of tissues with blast cells (e.g. gingival hypertrophy in AML)
Acute leukaemia
DxT malaise + pallor + bone pain →
ALL
DxT malaise + pallor + oral problems →
AML
Pallor of anaemia Petechiae, bruising Gum hypertrophy/gingivitis/stomatitis Signs of infection Variable enlargement of liver, spleen and lymph nodes Bone tenderness, especially sternum
Acute leukaemia
FBE and film: normochromic/normocytic anaemia; pancytopenia with circulatory blast cells; platelets: usually reduced Bone marrow examination PCR studies Cytogenetics
Acute leukaemia
Treatment: chemotherapy, immunotherapy, stem cell therapy
Acute leukaemia
As a rule, relapse of acute leukaemia means imminent death unless bone marrow
transplantation is successful. The mean 5-year survival rate for childhood ALL is about 75–80%;
for adult ALL 30%;
Acute leukaemia
A disorder of middle age, typically 40–60 years
Insidious onset
Constitutional symptoms: malaise, weight loss, fever, night sweats
Symptoms of anaemia
Splenomegaly (very large); abdominal discomfort
Priapism
Gout
Markedly elevated white cell count (granulocytes)
Marked left shift in myeloid series
Presence of Philadelphia chr
Chronic myeloid leukaemia (CML)
A disorder of late middle age and elderly
Insidious onset
Constitutional symptoms: malaise, weight loss, fever, night sweats
Lymphadenopathy (large rubbery nodes)—neck, axilla, groin (80%)
Moderately enlarged spleen and liver (about 50%)
Mild anaemia
Lymphocytosis >15 × 109/L
‘Mature’ appearance of lymphocytes
Chronic lymphocytic leukaemia (CLL)
DxT fatigue + weight loss + fever/night sweats + lymphadenopathy →
CLL
which are malignant tumours of lymphoid tissue, are classified as Hodgkin
lymphoma and non-Hodgkin lymphoma on the basis of histological appearance of the involved
lymph tissue.
The lymphomas6
Painless (rubbery) lymphadenopathy, especially cervical nodes
Constitutional symptoms (e.g. malaise, weakness, weight loss)
Fever and drenching night sweats—undulant (Pel–Ebstein) fever
Pruritus
Alcohol-induced pain in any enlarged lymph nodes
Possible enlarged spleen and liver
Hodgkin lymphoma
Diagnosis is by lymph node biopsy with histological confirmation. Other tests: FBE,
CXR, CT/MRI (to stage), bone marrow biopsy, functional isotopic scanning. Staging is
by using Ann Arbor nomenclature (IA to IVB). Treatment includes chemotherapy,
immunotherapy and radiotherapy.
Hodgkin lymphoma
DxT malaise + fever/night sweats + pruritus →
Hodgkin lymphoma
are a heterogeneous group of cancers of lymphocytes derived from the
malignant clones of B or T cells
Non-Hodgkin lymphomas
Painless lymphadenopathy—localised or widespread
Constitutional symptoms possible, especially sweating
Pruritus is uncommon
Extra nodal sites of disease (e.g. CNS, bone, skin, GIT)
Possible enlarged liver and spleen
Possible nodular infiltration of skin (e.g. mycosis fungoides)
Diagnosis is by lymph node biopsy.
CXR and CT abdomen to stage.
non-Hodgkin
lymphoma
DxT malaise + fever/night sweats + lymphadenopathy →
non-Hodgkin
lymphoma
is a clonal malignancy of the differentiated β lymphocyte—the plasma cell.
Multiple myeloma
It
is regarded as a disease of the elderly, the mean age of presentation being 65 years
Multiple myeloma
he classic presenting triad in an older person is anaemia, back pain and elevated ESR, which helps to differentiate it from monoclonal gammopathy of uncertain significance (MGUS).
Multiple myeloma
Other investigations include serum protein electrophoresis and immunofixation, Sestamibi scan
Multiple myeloma
Bone pain (e.g. backache)—in more than 80% of patients (possible pathological fracture)
Bone tenderness, e.g. femur, ribs, spine
Weakness, tiredness, increased thirst
Anorexia and weight loss
Recurrent infections, e.g. chest infection
Symptoms of anaemia
Bleeding tendency
Replacement of bone marrow by malignant plasma cells
Multiple myeloma
Impaired renal failure → kidney failure
Associated with amyloidosis and hypercalcaemia
Multiple myeloma
DxT weakness + unexplained back pain + susceptibility to infection →
Multiple myeloma
Diagnostic criteria comprise the presence of:7
paraprotein in serum (on electrophoresis)
Bence–Jones protein in urine
bony lytic lesions on skeletal survey
Multiple myeloma
Treatment is with chemotherapy including thalidomide or lenalidomide: 5-year survival rate is
50% or longer if diagnosed earlier
Multiple myeloma
primary macroglobulinaemia due to a type of malignant plasma cell
abnormality.
Waldenstrom macroglobulinaemia
This uncommon but difficult-to-diagnose disorder caused by the deposition of amyloid
protein is classified as primary, familial or secondary (from chronic infection, e.g. TB,
inflammation, RA, some cancers, others). It may be localised or generalised. Clinical features
depend on the organ targeted such as the heart (CCF), kidney (nephrotic syndrome), GIT
(malabsorption), brain (dementia) and peripheral nerves (e.g. CTS). Diagnosis
Amyloidosis
Hormone secretion by carcinoid cells causes the characteristic carcinoid syndrome long before
local growth or metastatic spread of the tumour is apparent (80% metastasise). Most carcinoid
tumours are asymptomatic.
Carcinoid tumours and syndrome
Classic triad: skin flushing (especially face), diarrhoea (with abdominal cramps), valvular
heart disease
Other possible features: wheezing, telangiectasia, hypotension, cyanosis
Sites of tumours: appendix/ileum, stomach, bronchi
Carcinoid tumours and syndrome
24-hour urine 5-hydroxyindoleacetic acid
Plasma chromogranin A/hepatic ultrasound
Carcinoid tumours and syndrome
Surgery or other ablation: octreotide/others
Carcinoid tumours and syndrome
This is a malignant proliferation of RBCs and also WBCs and platelets
Polycythaemia vera
Older person Fatigue Headache, dizziness, tinnitus Pruritus after hot bath, shower Epistaxis Facial plethora Splenomegaly Thrombosis
Polycythaemia vera
FBE and haematocrit
Bone marrow biopsy
Genetic mutations—JAK2 mutation
Polycythaemia vera
Testicular 98 Prostate 95 Thyroid 92 Melanoma 91 Breast (female) 91 Hodgkin lymphoma 87 Uterus 84 Bladder 77 Non-Hodgkin lymphoma 72 Colon 72 Ovary 41 Stomach 33 Liver 20 Lung 19 Pancreas
Common cancers and their 5-year survival rates (a collation of surveys)
Common sites of metastatic presentation are the lymph nodes, liver, lung, mediastinum and bone. Other sites include the brain, bone marrow, peritoneum, retroperitoneum, skin and the
spinal cord.
Metastatic tumours
Bone. Breast, prostate, lung, Hodgkin lymphoma, kidney, thyroid, melanoma
important sites (listed below) are followed by likely primary sources
Brain. Breast, lung, colorectal, lymphoma, kidney, melanoma, prostate
These important sites (listed below) are followed by likely primary sources, with the most likely
listed first.
Liver. Colon, pancreas, liver, stomach, breast, lung, melanoma
These important sites (listed below) are followed by likely primary sources, with the most likely
listed first.
Lung and mediastinum. Breast, lung, colorectal, kidney, testes, cervix/uterus, Hodgkin
lymphoma, melanoma
These important sites (listed below) are followed by likely primary sources, with the most likely
listed first.
DxT anorexia + weight loss + jaundice (± epigastric pain) →
pancreatic
cancer
DxT fatigue + dysphagia + weight loss →
oesophageal cancer
DxT anorexia + dyspepsia + weight loss →
stomach cancer
DxT headache + a/n/v + ataxia →
medulloblastoma (children)
DxT fever + malaise (extreme) + a/n/v (± anaemia) →
neuroblastoma
DxT mental dysfunction + vomiting + (waking) headache →
cerebral
tumour (late)
DxT indrawn eye + small pupil + ptosis (± anhydrosis) →
Horner
syndrome (?lung cancer)
are well known for their adverse intra-uterine effects on the fetus.
The TORCH organisms (TORCH being an acronym for toxoplasmosis, rubella, CMV and
herpes)
The mosquito-borne infections causing encephalitis and haemorrhagic fevers are mainly viral,
apart from the protozoan causing malaria, and are of particular significance in ______________________
travellers
returning from endemic areas
blood: malaria, trypanosomiasis
GIT: giardiasis, amoebiasis, cryptosporidium
tissues: toxoplasmosis, leishmaniasis, babesiosis
The major protozoal diseases of humans are:
Most of the world’s serious _______________infections—malaria, African trypanosomiasis,
leishmaniasis, amoebiasis—occur in tropical areas
protozoal
is a febrile illness caused by the human herpes virus 4 (Epstein–Barr) virus, one of the
eight known herpes viruses.
Epstein–Barr mononucleosis
It is often called ‘the great imitator’ because of its multisystem
involvement.
Epstein–Barr mononucleosis
It can mimic diseases such as HIV primary infection, streptococcal tonsillitis, viral
hepatitis and acute lymphatic leukaemia.
Epstein–Barr mononucleosis
There are three forms: the febrile, the anginose (with
sore throat, see FIG. 18.1 ) and the glandular (with lymphadenopathy).
Epstein–Barr mononucleosis
It may occur at any age but usually between 10 and 35 years; it is commonest in the 15–25 years
age group.
Epstein–Barr mononucleosis
it usually
affects people in their late teenage years or early 20s. It is endemic in most countries, affecting
over 95% of the adult population worldwide. Subclinical infection is common in young children.
The incubation period is at least 1 month but data are insufficient to define it accurately
Epstein–Barr mononucleosis
is excreted in oropharyngeal secretions during the illness and for some months (sometimes
years) after the clinical infection.
EBV
Slow-onset malaise 1–6 weeks Fever Myalgia Headaches, anorexia Blocked nose—mouth breathing Nasal quality to voice Sore throat (85%) Anorexia, nausea ± vomiting Rash—primary 5% Dyspepsia
Epstein–Barr mononucleosis
DxT malaise + sore throat + fever + lymphadenopathy →
EBM
WCC shows absolute lymphocytosis.
Blood film shows atypical lymphocytes.
Paul–Bunnell or Monospot test for heterophile antibody is positive (although positivity can be
delayed or absent in 10% of cases; 85% positive in adults and older children).
Diagnosis confirmed (if necessary) by EBV-specific antibodies, viral capsid antigen (VCA)
antibodies—IgM, IgG and EB nuclear antigen (EBN-A).
Consider throat culture to rule out streptococcal pharyngitis.
Culture for EBV and tests for specific viral antibodies are not performed routinely
Epstein–Barr mononucleosis
Supportive measures (no specific treatment)
Rest (the best treatment) during the acute stage, preferably at home and indoors
NSAIDs or paracetamol to relieve discomfort
Gargle soluble aspirin or 30% glucose or saline to soothe the throat
Advise against alcohol, fatty foods, continued activity, especially contact sports, for 8 weeks
(risk of splenic rupture)
Ensure adequate hydration
Corticosteroids reserved for: neurological involvement, thrombocytopenia, threatened airway
obstruction (not recommended for uncomplicated cases)
Epstein–Barr mononucleosis
Intra-uterine infection may cause serious abnormalities in the fetus, including CNS
involvement (microcephaly, hearing defects, motor disturbances), jaundice,
hepatosplenomegaly, haemolytic anaemia and thrombocytopenia.
Cytomegalovirus infection
In healthy adults, ___________produces an illness similar to EBM with fever, malaise, arthralgia and
myalgia, generalised lymphadenopathy and hepatomegaly
CMV
In the patient with normal immunity no treatment apart from supportive measures is required, as
the infection is usually self-limiting.
Cytomegalovirus infection
which is caused by Toxoplasma gondii, an obligate intracellular protozoan, is a
worldwide, albeit rare, infection
Toxoplasmosis
The definitive host in its life cycle is the cat (or pig or sheep)
and the human is an intermediate host.
Toxoplasmosis
caused by Mycobacterium tuberculosis, still has a worldwide distribution
with a very high prevalence in Asian countries where 60–80% of children below the age of 14
years are affected
Tuberculosis
This has special implication in Australia, where large numbers of Asian
migrants are settling.
Tuberculosis
Cough Sputum: initially mucoid, later purulent Haemoptysis Dyspnoea (esp. with complications Pleuritic pain
Tuberculosis
Anorexia Fatigue Weight loss Fever (low grade) Night sweats
Tuberculosis
May be no respiratory signs or may be signs of fibrosis, consolidation or cavitation (amphoric
breathing)
Finger clubbing
Tuberculosis
High-risk people/situations Newborn and infants Adults over 60 years Patients with HIV/AIDS Chronic disease, e.g. diabetes Crowded or unsanitary living conditions People affected by alcohol and drugs Immigrants and refugees from endemic countries (especially Indian subcontinent, Papua New Guinea, South-East Asia, Sub Sahara and South Africa)
pulmonary TB
DxT malaise + cough + weight loss ± fever/night sweats + haemoptysis →
pulmonary TB
The primary infection usually involves the lungs. Transmission is by droplet infection.
The focus is usually subpleural in the upper to mid zones and is almost always accompanied by
lymph node involvement.
pulmonary TB
Erythema nodosum may accompany the primary infection
pulmonary TB
is the presence of infection without evidence of active disease (contained by the immune
system) and inability to transmit the infection.
Latent TB infection (LTBI)
Most cases of ________in adults are due to reactivation of disease some years later
TB
The main sites of extrapulmonary disease (in order of frequency in Australia) are the lymph
nodes (the commonest, especially in young adults and children), genitourinary tract (kidney,
epididymis, Fallopian tubes), pleura and pericardium, the skeletal system (arthritis and
osteomyelitis with cold abscess formation), CNS (meningitis and tuberculomas), the eye
(choroiditis, iridocyclitis), the skin (lupus vulgaris), the adrenal glands (Addison disease—see
CHAPTER 14 ) and the GIT (ileocaecal area and peritoneum).
Extrapulmonary TB
This disorder follows diffuse dissemination of tubercle bacilli via the bloodstream,
especially in those with chronic disease and immunosuppression
Miliary tuberculosis
Children living in close contact with people with smear-positive pulmonary TB are highly
vulnerable to acquiring the primary infection. A possible complication is miliary TB
TB in children2
Primary disease is the more common form in young children. Reactivation is more common in
adolescents.
TB
chest X-ray; CT scan if doubtful
sputum or bronchial excretion or gastric aspirates for stain (acid-fast bacilli) and
culture (takes about 6–8 weeks but important); ideally requires 3 specimens over 3
days including one early morning
immunochromatographic finger-prick test (new and promising)
interferon gamma release assay (IGRA)
QuantiFERON–TB Gold blood test
NAAT/PCR test—less sensitive than culture
biopsies on lesions/lymph nodes may be necessary; the hallmark is caseating granulomata
fibre-optic bronchoscopy to obtain sputum may be necessary
consider HIV studies
diagnosis of TB.
<5 mm—negative (note: may be negative in presence of very active pulmonary infection)
5–10 mm—typical of past BCG vaccination
>5 mm—significant in immunocompromised, close contacts and HIV infection
>10 mm—positive = tuberculosis infection (active or inactive)
>15 mm—highly significant for ‘normal’ people
Tuberculin (Mantoux) testing and BCG vaccination
Aboriginal and Torres Strait Islander neonates in regions of high incidence
neonates born to patients with leprosy or family history of leprosy
children <5 years travelling for long periods to countries of high TB prevalence
BCG vaccination is recommended for:
The current antimicrobial treatment is the
standard short-course therapy with four antituberculous drugs initially (rifampicin + isoniazid +
pyrazinamide + ethambutol) daily for 2 months, then rifampicin + isoniazid daily for a further 4
months.
pulmonary TB
Pyridoxine 25 mg daily is
recommended for adults taking isoniazid. A 3-times-weekly regimen is also an option if DOT is
employed. Corticosteroids may be prescribed.
pulmonary TB
extremely common in certain Indigenous groups and is frequently acquired from sexual
contacts overseas
Syphilis
It presents either as a primary lesion or through the chance finding of positive syphilis serology
(reagin tests, treponemal antibody tests, PCR).
Syphilis
The primary lesion or chancre usually develops at the point of inoculation after an incubation
period averaging 21 days.
Primary syphilis
The adjacent lymph nodes are discretely enlarged, firm and non-suppurating. Any
anorectal ulcer or sore should be considered as syphilis until proved otherwise.
Primary syphilis
The interval between the appearance of the primary chancre and the onset of secondary
manifestations varies from 6 to 12 weeks after infection
Primary syphilis
The most common feature of the secondary stage of infection is a rash, which is present in about
80% of cases. The rash is typically a symmetrical, generalised, coppery-red maculopapular
eruption on the face, trunk, palms and soles and is neither itchy nor tender
Primary syphilis
Positive serology in a patient without symptoms or signs of disease is referred to as latent
syphilis and is the commonest presentation of syphilis in Australia today.
Latent syphilis
Spirochaetes can be demonstrated by microscopic examination of smears from early lesions
using dark field techniques and provide an immediate diagnosis in symptomatic syphilis. The
direct fluorescent antibody techniques (FTAABS) can be used on this smear.
Dark field examination8
Serological tests provide indirect evidence of infection, and the diagnosis of asymptomatic
syphilis relies heavily on these tests. The main types of tests are
reagin tests (VDRL and RPR)—not specific for syphilis but useful for screening treponemal tests (TPPA, TPI, EIA, FTAABS)—specific tests, with the latter being sensitive and widely used PCR (blood or CSF)—very sensitive
It is based on parenteral benzylpenicillin or procaine penicillin
syphilis
fever,
especially in patients with a history of cardiac valvular disorders.
Infective endocarditis
It is caused by microbial
infection of the cardiac valves or endocardium.
Infective endocarditis
more invasive
procedures, IV drug use and increased cardiac catheterisation
Infective endocarditis
DxT FUO + cardiac murmur + embolism →
Infective endocarditis
Past history of endocarditis Rheumatically abnormal valves, especially Aboriginal and Torres Strait Islander people Congenitally abnormal valves Mitral valve prolapse Calcified aortic valve Congenital cardiac defects (e.g. VSD, PDA) Prosthetic valves, shunts, conduits IV drug use Central venous catheters
Infective endocarditis
Streptococcus viridans (50% of cases) most susceptible to penicillin
Streptococcus bovis
Enterococcus faecalis
Infective endocarditis
The ‘classic tetrad’ of clinical features:9 signs of infection, signs of heart disease,
signs of embolism, immunological phenomena
Infective endocarditis
Culture the blood of every patient who has a fever and a heart murmur.
Infective endocarditis
FBE and ESR: ESR ↑, anaemia and leukocytosis
urine: proteinuria and microscopic haematuria
blood culture: positive in about 75%8 (at least 3 sets of samples—aerobic and anaerobic
culture)
echocardiography—to visualise vegetations (TOE more sensitive than TTE)
chest X-ray
ECG
Infective endocarditis
Bactericidal antibiotics are chosen on the basis of the results of the blood culture and
antibiotic sensitivities.
Infective endocarditis
treatment must be given IV for at least 2 weeks
treatment is prolonged—usually 4–6 weeks
Infective endocarditis
Benzylpenicillin + gentamicin + di(flu)cloxacillin are recommended
Vancomycin needs to be considered if hospital acquired, MRSA suspected or prosthetic
cardiac valve
Infective endocarditis
Consider Q fever, leptospirosis, orf, anthrax
Meat workers
______________(undulant fever, Malta fever) has diminished in prevalence since the
campaign to eradicate it from cattle.
Brucellosis
DxT malaise + headache + undulant fever →
brucellosis
Brucella agglutination test (rising titre)—acute and convalescent (3–4 weeks) samples
Brucella PCR testing—sensitive and rapid
brucellosis
Adults: doxycycline 100 mg (o) bd for 6 weeks + rifampicin 600 mg (o) daily for 6 weeks
or
gentamicin 4–6 mg/kg/day IV statim then daily for 2 weeks (monitor)
Children: cotrimoxazole + rifampicin
brucellosis
_______________ is a zoonosis due to Coxiella burnetii. It is the most common abattoir-associated infection in Australia and can also occur in farmers and hunters
Q fever
It usually resolves
spontaneously within 2 weeks. Rash is not a major feature but can occur if the infection persists
without treatment. It is transmitted by inhaled dust, animals (wild or domestic) and unpasteurised
milk.
Q fever
Incubation period 1–3 weeks Sudden onset fever, rigors and myalgia Dry cough (may be pneumonia in 20%)14 Petechial rash (if persisting infection) ± Abdominal pain
Q fever
DxT fever + headache + prostration →
Q fever
Coxiella burnetii PCR is effective
Q fever
The disease can be prevented in abattoir workers by using Q fever vaccine
Q fever
follows contamination of abraded or cut skin or mucous membranes with Page 194
Leptospira-infected urine of many animals including pigs, cattle, horses, rats and dogs.
Leptospirosis
There is a risk to dairy farmers
splashed with urine during milking, especially if through open cuts or sores. Early diagnosis is
important to prevent it passing into the immune phase.
Leptospirosis
DxT abrupt fever + headache + conjunctivitis →
leptospirosis
Clinical pattern especially rash of erythema migrans + serology and PCR
Lyme and lyme-like disease
spirochaete, Borrelia burgdorferi, and transmitted by Ixodes ticks, so that people living and
working in the bush are susceptible
Lyme and lyme-like disease
Remove tick
A typical regimen for adults is doxycycline 100 mg bd for 21 days or amoxicillin
Lyme and lyme-like disease
Most patients are bird fanciers. Psittacosis accounts for 1–5% of hospital admissions for
pneumonia.
Psittacosis (‘bird fancier’s disease’)
It is indistinguishable from other atypical
pneumonias except for history of contact with birds.
Psittacosis (‘bird fancier’s disease’)
Serology—rising antibody and PCR
Chest X-ray
Psittacosis (‘bird fancier’s disease’)
is caused by Listeria monocytogenes, a bacterium widespread in nature that
can contaminate food and has been found in many fresh (e.g. fruit and vegetables) and processed
foods (e.g. dairy products, especially unpasteurised milk, soft cheese, processed meats and
smoked seafood).
Listeriosis
influenza-like illness (usually mild) food poisoning, gastroenteritis (atypical) meningitis, especially infants, elderly septicaemia (in susceptible) pneumonia (in susceptible)
Listeriosis
Infections from bites and scratches
cat-scratch disorder, rat bite fever
This sometimes misdiagnosed bacterial infection (Clostridium tetani) can appear from one day to
several months after the injury, which may have been forgotten
Tetanus
Prodrome: fever, malaise, headache
Trismus (patient cannot open mouth)
Risus sardonicus (a grin-like effect from hypertonic facial muscles)
Opisthotonos (arched trunk with hyperextended neck)
Spasms, precipitated by minimal stimuli
Tetanus
Give tetanus antitoxin and human tetanus immunoglobin
Tetanus
(necrotising soft tissue infection) can involve skin and subcutaneous fat, fascia and
muscle.
Gangrene/gas gangrene5
(clostridial myonecrosis) is caused by entry of one of several clostridia organisms,
for example, Clostridium perfringens, into devitalised tissue, such as exists following severe
trauma to a leg.
Gangrene/gas gangrene
Refer immediately to surgical centre for debridement
Start benzylpenicillin 2.4 g IV, 4 hourly + clindamycin
Hyperbaric oxygen if available
Gangrene/gas gangrene
Sudden onset of pain and swelling in the contaminated wound Brownish serous exudate Gas in the tissue on palpation or X-ray Prostration and systemic toxicity Circulatory failure (‘shock’)
Gangrene/gas gangrene
is food poisoning caused by the neurotoxin of Clostridium botulinum
Botulism5
From 12 to 36 hours after ingesting the toxin
from canned, smoked or vacuum-packed food (e.g. home-canned vegetables or meat) visual
problems such as diplopia suddenly appear. Suspect botulism if cranial nerve weakness with
normal sensation.
Botulism
Fever, malaise
Headache
Minimal respiratory symptoms, non-productive cough
Signs of consolidation absent
Chest X-ray (diffuse infiltration) incompatible with chest signs
atypical pneumonia
DxT ‘flu’ + headache + dry cough →
atypical pneumonia
Blood tests and PCR tests are available for all the following causative organisms:
Mycoplasma pneumoniae (the commonest)
Adolescents and young adults: treat with doxycycline (first line) 200 mg statim then 100 mg
daily for 14 days
or
roxithromycin 300 mg (o) daily for 14 days
atypical pneumonia
Related to cooling systems in large buildings
Incubation 2–10 days
Diagnostic criteria include: prodromal-like illness; a dry cough, influenza-like illness,
confusion or diarrhoea; lymphopenia with marked leukocytosis; hyponatraemia; PCR test and
urinary antigen assay
Treatment for mild disease: azithromycin 500 mg (o) daily for 5 days or doxycycline 100 mg
(o) 12 hourly for 10–14 days
Legionella pneumophila (legionnaire disease)
is inflammation of the meninges (pia and arachnoid) and the cerebrospinal fluid
(CSF).
Meningitis
The classic triad is: headache photophobia neck stiffness Other symptoms include malaise, vomiting, fever and drowsiness
Meningitis
Streptococcus pneumoniae, Haemophilus influenzae (especially children), Neisseria
meningitides (the big three)
Listeria monocytogenes, Mycobacterium tuberculosis, Group B Streptococcus, Strep.
agalactiae (common in newborn), Staphylococcus spp., Gram –ve bacilli, such as Escherichia
coli, Borrelia burgdorferi, Treponema pallidum
Meningitis
Enteroviruses (Coxsackie, echovirus, poliovirus); mumps; herpes simplex HSV type 1, 2 or 6;
varicella zoster virus; EBV; HIV (primary infection)
Meningitis
Cryptococcus neoformans or C. gattii
Histoplasma capsulatum
Meningitis
Lumbar puncture (see TABLE 20.1 )
CT scan
Blood culture—all patients with suspected meningitis
CSF microculture/PCR (PCR useful even if antibiotics given)
Specific serology, e.g. HIV, EBV
Note: If significant delay with these investigations, do not withhold treatment
Meningitis
is basically a childhood infection. Neonates and children aged 6–12 months
are at greatest risk.
Bacterial meningitis2
Most cases begin as septicaemia, usually via the nasopharynx
Bacterial meningitis
Fever, pallor, vomiting ± altered conscious and mental state Lethargy Increasing irritability with drowsiness Refusal to feed, indifference to mother Neck stiffness (not always present) Cold extremities (a reliable sign) May be bulging fontanelle Kernig sign (see FIG. 20.1 ): unreliable Brudzinski sign (see FIG. 20.2 ): more reliable sign of meningeal irritation Opisthotonos
Bacterial meningitis
Kernig sign: pain in hamstrings with inability to straighten leg on
passive knee extension with hip flexed at 90°
Bacterial meningitis
Brudzinski sign: neck flexion causes involuntary flexion of hip
and knee
Bacterial meningitis
Meningeal irritation more obvious (e.g. headache, fever, vomiting, neck stiffness)
Later: delirium, altered conscious state
Bacterial meningitis
First: oxygen + IV access and consult
Take blood for culture (within 30 minutes of assessment)—ideally prior to hospitalisation
For child give bolus of 10–20 mL/kg of N saline with added bolus up to total 60 ml/kg if signs
of hypoperfusion
Admit to hospital for lumbar puncture (preliminary CT scan to assess safety of LP in adults)
Dexamethasone 0.15 mg/kg up to 10 mg IV (start at same time as or 15 minutes before
antibiotics—controversial but shown to improve outcome)5
Ceftriaxone 2 g (child >1 month: 50 mg/kg up to 2 g) IV statim then 12 hourly for 4
days
or
cefotaxime 2 g (child: 50 mg/kg up to 2 g) IV
Bacterial meningitis
Treatment is extremely urgent once suspected (e.g. petechial or purpuric rash on trunk and limbs)
(see FIG. 20.4 ). It should be given before reaching hospital. Empirical treatment is:
benzylpenicillin 2.4 g (child: 60 mg/kg IV up to 2.4 g) statim (continue for 5 days)
if IV access not possible give IM or (especially if hypersensitive to penicillin)
Bacterial meningitis
Meningococcal vaccines—B and ACWY given separately
Bacterial meningitis
This is basically a childhood infection. The most common causes are human herpes virus 6 (the
cause of roseola infantum) and enteroviruses (Coxsackie and echovirus).
Viral meningitis
Most cases are benign and self-limiting, but the clinical presentation can mimic bacterial
meningitis, although there are fewer obvious signs of meningeal irritation
Viral meningitis1,6
Lumbar puncture is
important for diagnosis and also PCR for enterovirus. If positive, it can allow early cessation of
antibiotics if commenced empirically.2 Treatment which is symptomatic includes rehydration
and analgesics. Aciclovir is given for herpes meningitis. The immunocompromised require
special management.
Viral meningitis1,6
Very cold hands? Think .
Viral meningitis
is inflammation of the brain parenchyma. It is mainly caused by viruses, although
other organisms including some bacteria, Mycoplasma, Rickettsia and Histoplasma can cause
encephalitis. Suspect it when a viral prodrome is followed by irrational behaviour, altered
conscious state and possibly cranial nerve lesions.
Encephalitis
These can vary from mild to severe.
Constitutional: fever (not inevitable), malaise, myalgia
Meningeal features: headache, photophobia, neck stiffness
Cerebral dysfunction: altered consciousness—confusion, drowsiness, personality changes,
irrational behaviour, seizures, coma
Focal neurological deficit
Encephalitis
A protozoal infection seen in immunocompromised patients, especially HIV. Refer for specialist
advice.
Toxoplasma gondii
Lumbar puncture: CSF (usually aseptic meningitis)
CSF PCR for viral studies, esp. HSV, toxoplasma
CT scan—often shows cerebral oedema
Gadolinium-enhanced MRI
EEG—characteristic waves
Toxoplasma gondii
is a focal area of infection in the cerebrum or cerebellum.
A brain (cerebral) abscess
It presents
as a space-occupying intracerebral lesion
A brain (cerebral) abscess
Suspect in any patient with a raised intracranial
pressure.
A brain (cerebral) abscess
The infection can reach the brain by local spread or via the bloodstream; for example,
endocarditis or bronchiectasis.
A brain (cerebral) abscess
There may be no clue to a focus of infection elsewhere but it can
follow ear, sinus, dental, periodontal or other infection and also a skull fracture. The organisms
are polymicrobial, especially microaerophilic cocci and anaerobic bacteria in the nonimmunosuppressed.
In the immunosuppressed, Toxoplasma, Nocardia sp. and fungi.
A brain (cerebral) abscess
Raised intracranial pressure Headache Nausea and vomiting Altered conscious state Papilloedema
A brain (cerebral) abscess
Focal neurological signs such as hemiplegia, dysphasia, ataxia
Seizures (30%)
Fever (may be absent)
Signs of sepsis elsewhere, e.g. teeth, endocarditis
A brain (cerebral) abscess
MRI (if available) or CT scan
FBE, ESR/CRP, blood culture
Note: Lumbar puncture is contraindicated.
Consider endocarditis
A brain (cerebral) abscess
Management is urgent neurosurgical referral. Aspiration or biopsy is essential to guide
antimicrobial treatment, which may (empirically) include metronidazole IV and a cephalosporin,
e.g. ceftriaxone IV. Nocardiosis is treated with other antibiotics
A brain (cerebral) abscess
These uncommon focal infections can be extremely difficult to diagnose so an index of suspicion
is required to consider such an abscess. The usual organism is Staphylococcus aureus.
Spinal subdural or epidural abscess
Back pain (increasing) ± radiculopathy
Percussion tenderness over spine
Evolving neurological deficit, e.g. gradual leg weakness and sensory loss ± fever (may be
absent)
Spinal subdural or epidural abscess
Associated infection: furuncle, decubitus ulcer, adjacent osteomyelitis, discitis, other
Spinal subdural or epidural abscess
Back trauma with haematoma
Post-subdural or epidural anaesthetic block
One-third is spontaneous
Spinal subdural or epidural abscess
Blood culture
MRI scan to localise abscess and spinal cord pressure
Spinal subdural or epidural abscess
Urgent neurosurgical referral. Empirical therapy while awaiting culture results may include
di/flucloxacillin IV + gentamicin IV or vancomycin IV.
Spinal subdural or epidural abscess
DxT fatigue + psychiatric symptoms + myoclonus →
CJD
Progressive dementia (starts with personality change and memory loss—eventual loss of
speech)
Myoclonus/muscle spasms
Fatigue and somnolence
Variable neurological features (e.g. ataxia, chorea)
Creutzfeldt–Jakob disease
MRI: high signal intensity in thalami
CSF: positive 14-3-3 protein immunoassay
EEG
Brain biopsy after death (ultimate confirmation)
Creutzfeldt–Jakob disease
is a highly contagious enterovirus (picornavirus) transmitted through the faeco-oral route
and is a specific spinal cord anterior horn cell enterovirus. It remains endemic in the tropics.
Most infections (95%) are asymptomatic. Note: Myelitis means inflammation of the spinal cord
Poliomyelitis
Flu-like syndrome, with fever and sore throat, then
‘Pre-paralytic’ stage: nausea and vomiting, headache, stiff neck (meningeal irritation)
Paralytic (0.1%): LMN lesion (flaccid paralysis)—may include spinal polio especially of
lower limbs and/or bulbar polio ± respiratory failure. No sensory loss.
There are 2 levels of polio: minor (recovery in a few days) and major.
Poliomyelitis
Viral studies of throat and faeces—culture and PCR
Serology
CSF: leucocytosis, esp. lymphocytes
Poliomyelitis
Symptomatic paralytic patients should be referred to hospital. Prevention is through vaccination
Poliomyelitis
can present at any stage of syphilis. The main syphilitic syndromes affecting the
CNS are:
Neurosyphilis
Asymptomatic syphilis: present during the interval between the secondary and tertiary stages
of syphilis.
Meningitis including acute basal meningitis and meningovascular syphilis. The latter can
present with a cerebrovascular accident.
Tabes dorsalis causing meningoradiculitis with degeneration of the parenchyma of the spinal
columns of the spinal cord and involvement of the pupils. Features include lightning pains,
Charcot joints, ataxia and neurotrophic ulcers, Argyll Robertson pupils.
General paralysis of the insane with marked personality change, dementia, dysarthria and
seizures
Neurosyphilis
may include tuberculosis meningitis, tuberculoma (presenting as a cerebral
abscess), spinal arachnoiditis and spinal involvement (Pott disease). Treatment with multiple
antimicrobial agents is usually complex and prolonged.
Neurological TB
Worm infestations that can (rarely) cause intracerebral lesions through the formation of cysts or
granulomas include cysticercosis (tapeworms, e.g. Taenia solium), Echinococcus (hydatid) and
Schistosoma.
Helminthic infections
High sensitivity 95%, low specificity for SLE
Antinuclear antibody (ANA)
High sensitivity and specificity for SLE (60%):
found in rheumatoid arthritis
Anti-dsDNA
Highly specific for SLE
Smith (Sm)
Common in Sjögren syndrome and SLE
Common in Sjögren syndrome, SLE (15%)
Ro (SSA)
La (SSB)
Common in 20–30% of patients with
scleroderma
Scl-70 (antitopoisomerase)
Common in 30% of patients with polymyositis
Jo1
High sensitivity and specificity for CREST
syndrome
Anticentromere lc
High sensitivity and specificity for Wegener
granulomatosis
Antineutrophil cytoplasm
ANCA
Diagnostic in antiphospholipid syndrome
Antiphospholipids
Anticardiolipin
Anti-β2-GP1 antibodies
This syndrome may occur with SLE or in isolation and is responsible for recurrent arterial and/or
venous thromboembolism, recurrent spontaneous abortions or thrombocytopenia in the presence
of antiphospholipid antibodies but without features of SLE. Livedo reticularis, skin ulcers and
neuropsychiatric disturbances have also been noted. If suspected, commence aspirin 150–300 mg
(o) daily and refer to a consultant, especially during pregnancy
Antiphospholipid antibody syndrome
which is the commonest of the connective tissue disorders, is described as the
‘great pretender’.3 It is a multisystem autoimmune disorder with a wide variety of clinical
features that are due to vasculitis (see FIG. 21.2 ). Arthritis is the commonest feature of SLE
(90% of cases). Milder manifestations outnumber more severe forms.
Systemic lupus erythematosus
Prevalence about 1 in 1000 of population
Mainly affects women in ‘high oestrogen’ period (90% of cases)
Peak onset between 15 and 45 years
Systemic lupus erythematosus
Fever, malaise, tiredness common
Multiple drug allergies, e.g. sulfonamides
Problems with oral contraceptive pill and pregnancy
Course of remission and flares
Systemic lupus erythematosus
DxT polyarthritis + fatigue + skin lesions →
Systemic lupus erythematosus
Malar (butterfly) rash
Discoid rash
Photosensitivity
Arthritis (symmetric non-erosive arthritis in ≥2 peripheral joints)
Oral ulcers (usually painless)
Serositis (pleurisy or pericarditis)
Kidney features (proteinuria or cellular casts)
Neurological features (intractable headache, seizures or psychosis)
Haematological features (haemolytic anaemia, leucopenia, lymphopenia or thrombocytopenia)
Immunological features (positive anti-dsDNA, antiphospholipid antibodies, anticardiolipin or
anti-Sm tests and false-positive syphilis serology)
Positive antinuclear antibody (ANA) test
SLE
ESR/CRP—elevated in proportion to disease activity
ANA test—positive in 95% (perform first) (key test) but poor specificity
SLE
dsDNA antibodies—90% specific for SLE but present in only 60% (key test)
ENA antibodies, especially Sm—highly specific
Rheumatoid factor—positive in 50%
LE cell test—inefficient and not used
SLE
For suspected SLE, the recommended approach is to perform an ANA test. If positive,
then order dsDNA and ENA antibodies
SLE
Mild: NSAIDs (for arthralgia)
Moderate (especially skin, joint serosa involved): low-dose antimalarials (e.g.
hydroxychloroquine up to 6 mg/kg once daily) (e.g. 400 mg (o) daily for 3 months, then
200 mg daily long term)
SLE,
Rule: treat early and avoid long-term and unnecessary steroid use.
SLE,
Severe: corticosteroids are the mainstay (e.g. prednisolone initially 25–60 mg (o) daily then
7.5–15 mg (o) daily); immunosuppressive steroid-sparing drugs (e.g. azathioprine,
methotrexate with folic acid, bDMARDs (e.g. rituximab, belimumab) may be used for severe
arthralgia and IV or oral cyclophosphamide for organ damage
SLE
This can present as a polyarthritis affecting the fingers in 25% of patients, especially in the early
stages. Soft tissue swelling produces a ‘sausage finger’ pattern. Scleroderma mainly affects the
skin with fibrotic thickening. It presents with Raynaud phenomenon in over 85% of patients
Systemic sclerosis (scleroderma)
There are three clinical variants:
1 limited cutaneous disease, e.g. morphea
2 cutaneous with limited organ involvement (CREST)
3 diffuse systemic disease (systemic sclerosis)
Systemic sclerosis (scleroderma)
Female to male ratio = 3:1
A progressive disease of multiple organs
Raynaud phenomenon
Stiffness and tightness of fingers and other skin areas (see FIG. 21.4 )
‘Bird-like’ facies (mouth puckered)
Dysphagia and diarrhoea (malabsorption)
Oesophageal dysmotility
Respiratory symptoms: pulmonary fibrosis
Cardiac symptoms: vasculopathy, pericarditis, pulmonary arterial hypertension, etc.
Look for tight skin on chest (Roman breastplate)
Systemic sclerosis (scleroderma)
DxT finger discomfort + arthralgia + GORD (± skin tightness) →
Systemic sclerosis (scleroderma)
ESR may be raised
Normocytic normochromic anaemia may be present
ANA test—up to 90% positive (relatively specific)
Rheumatoid factor—positive in 30%
Anticentromere antibodies—specific (positive in 90% with limited disease and 5% with
diffuse)
Antitopoisomerase I (anti-Scl-70) antibody is specific but only positive in 20–30%
Skin biopsy—increase in dermal collagen
Systemic sclerosis (scleroderma)
Empathic explanation, patient education
Analgesics and NSAIDs for pain
Avoid vasospasm (no smoking, beta blockers, ergotamine); calcium-channel blockers such as
nifedipine may help Raynaud
Monitor blood pressure
Treat malabsorption if present; skin emollients
D-penicillamine can help if there is significant systemic or cutaneous involvement
Systemic sclerosis (scleroderma)
Calcinosis Raynaud phenomenon Oesophageal dysmotility Sclerodactyly Telangiectasia Anticentromere antibody (invariably positive)
CREST syndrome
is an uncommon systemic disorder with inflammation of skin and muscle whose
main feature is symmetrical muscle weakness and wasting involving the proximal muscles of the
shoulder and pelvic girdles.
Polymyositis
Any age group
Peak incidence 40–60 years
Female to male ratio = 2:1
Muscle weakness and wasting proximal limb muscles
Main complaint is weakness
Muscle pain and tenderness in about 50%
Arthralgia or arthritis in about 50% (resembles distribution of rheumatoid arthritis)
Dysphagia in about 50% due to oesophageal involvement
Raynaud phenomenon
Consider associated malignancy: lung and ovary
Polymyositis
DxT weakness + joint and muscle pain + violaceous facial rash →
dermatomyositis
rash shows features of photosensitivity. There is heliotrope (violet) discolouration
of the eyelids (see FIG. 21.5 ), forehead and cheeks, and possible erythema resembling sunburn
and peri-orbital oedema. A classic sign is a macular rash over the upper chest, back and
shoulders. There is a characteristic rash on the hands, especially the fingers and nail folds. The
knees and elbows are commonly involved.
dermatomyositis
Muscle enzyme studies (serum creatine kinase and aldolase)
Antibody associations, e.g. anti-Jo1
dermatomyositis
Biopsies—skin and muscle
EMG studies—show characteristic pattern
dermatomyositis
Treatment includes corticosteroids, hydroxychloroquine and cytotoxic drugs. Early referral is
appropriate. Malignancy surveillance is important due to an increased risk of common cancers.
dermatomyositis
The underdiagnosed syndrome of dry eyes (keratoconjunctivitis sicca) in the absence of
rheumatoid arthritis or any other autoimmune disease is known as primary Sjögren syndrome
(SS). There is lymphoid infiltration of the exocrine glands
Sjögren syndrome
primary SS—limited or multisystem
secondary SS—occurs in association with other CTDs including rheumatoid arthritis (accounts
for 50%) or systemic sclerosis
Sjögren syndrome
Fatigue
Sicca (xerostomia, dry eyes, dry vagina)
Difficulty swallowing food
Increased dental caries; denture dysfunction
Salivary gland enlargement; reduced salivation
Xerotrachea → chronic dry cough; hoarseness
Dyspareunia
Arthralgia ± non-erosive arthritis
Sjögren syndrome
DxT dry eyes + dry mouth + arthritis →
Sjögren syndrome
Autoantibody tests—positive ANA(ENA), Ro (SSA), La (ss-B)
Elevated ESR, +ve RA factor, possibly anaemia
Sjögren syndrome
Schirmer tear test (measures conjunctival dryness)
Sjögren syndrome
Referral to rheumatologist
Treatment is symptomatic for dry eyes, mouth and vagina; arthralgia
NSAIDs, hydroxychloroquine or steroids for arthritis
Sjögren syndrome
It is classified as either primary (without associated disease) or secondary (when associated with
any CTD).
Raynaud phenomenon
Patients with primary Raynaud may progress to a CTD but the likelihood is low (5–15%) and the
delay to diagnosis is long (average of 10 years).2 The more severe the Raynaud, the more likely
it is to progress to systemic disease.
Raynaud phenomenon
is a clinical syndrome of episodic arteriolar vasospasm usually involving the fingers and toes (one or two at a time).
Raynaud phenomenon
are a heterogeneous group of disorders involving
inflammation and necrosis of blood vessels, the clinical effects and classification depending on
the size of the vessels involved
The vasculitides or vasculitis syndromes
Small vessel vasculitis is the common type encountered in practice. Medium vessel vasculitis
includes polyarteritis nodosa and large vessel vasculitis includes giant cell arteritis
The vasculitides or vasculitis syndromes
Symptoms suggestive of vasculitis include systemic (malaise, fever, weight loss, arthralgia), skin
lesions (e.g. purpura, ulcers, infarction), respiratory (wheeze, cough, dyspnoea), ENT (epistaxis,
sinusitis, nasal crusting), chest pain (angina), kidney (haematuria, proteinuria, CKF) and
neurological (various, e.g. sensorimotor).
The vasculitides or vasculitis syndromes
This is associated with many important disorders, such as rheumatoid arthritis, SLE, bacterial
endocarditis, Henoch–Schönlein purpura and hepatitis B. Skin lesions are usually associated with
these disorders and the most common presentation is painless, palpable purpura, such as occurs
with Henoch–Schönlein purpura.
Small vessel vasculitis
disease is suspected, early diagnosis is life-saving
because of sinister kidney damage. Perform a urine examination for haematuria and
proteinuria. If positive, order an ANCA test. If positive, refer urgently
If a serious ANCA-associated
Known as ‘pulseless disease’ or ‘aortic arch syndrome’, this vasculitis involves the aortic arch
and other major arteries. It typically affects young Japanese female adults. Features include
absence of peripheral pulses and hypertension
Takayasu arteritis2
The hallmark of PN is necrotising vasculitis of the small and medium arteries leading to skin
nodules, infarctive ulcers and other serious manifestations. The cause is unknown but
associations are found with drug abusers (especially adulterated drugs), B-cell lymphomas, other
drugs and hepatitis B surface antigen. It should be suspected in any multisystemic disease of
obscure aetiology
Polyarteritis nodosa
Young to middle-aged men
Constitutional symptoms: fever, malaise, myalgia, weight loss
Migratory arthralgia or polyarthritis
Subcutaneous nodules along arterial lines
Livedo reticularis and skin ulcers
Kidney impairment and hypertension
Cardiac disorders: arrhythmia, failure, infarction
Diagnosis confirmed by biopsy or angiogram
ESR raised
Treatment is with corticosteroids and immunosuppressants. Refer for specialist care.
Meticulous control of blood pressure is essential
Polyarteritis nodosa
DxT arthralgia + weight loss + fever (± skin lesions) →
polyarteritis nodosa
The basic pathology of this very important disease complex is GCA (synonyms: temporal
arteritis, cranial arteritis).
Giant cell arteritis
The clinical manifestations of polymyalgia rheumatica invariably precede those of
temporal arteritis, of which there is about a 50% association. The diagnosis is based on clinical
grounds. No definite cause has been found.
Giant cell arteritis and polymyalgia rheumatica
Pain and stiffness in proximal muscles of shoulder and pelvic girdle, cervical spine (refer
FIG. 21.7 )
Symmetrical distribution
Typical ages 60–70 years (rare <50)
Both sexes: more common in women
Early morning stiffness lasting >45 minutes
May be systemic symptoms: weight loss, malaise, anorexia, fever
Clinical features (polymyalgia rheumatica)
Painful restriction of movement of shoulders and hips (other joints not usually involved)
Signs may be absent later in day
ESR typically >40 but may be normal
Clinical features (polymyalgia rheumatica)
DxT malaise + painful shoulder girdle + morning stiffness (>50 years) →
Clinical features (polymyalgia rheumatica)
Age >50 New headache—unilateral, throbbing (see CHAPTER 45 ) Visual symptoms, e.g. diplopia Temporal artery tenderness Polymyalgia rheumatica Loss of pulsation of temporal artery Jaw claudication Biopsy of temporal artery (5 cm) is diagnostic
Clinical features (temporal arteritis)
DxT fatigue/malaise + headache + jaw claudication →
Clinical features (temporal arteritis)
No specific test for polymyalgia rheumatica
ESR—extremely high, >50 mm/hr
C-reactive protein—elevated
Mild anaemia (normochromic, normocytic)
polymyalgia rheumatica
Refer any patient with suspected _________urgently.
GCA
Prednisolone
Starting dose:
____________________: 1 mg/kg (usually 60 mg) (o) daily initially for 4 weeks (+
aspirin 100 mg/day) then gradual reduction according to ESR/CRP
temporal (giant cell) arteritis
Prednisolone
____________________: 15 mg (o) daily for 4 weeks, then reduce daily dose by 2–5 mg
every 4 weeks to 10 mg/day, then 1 mg every 4–8 weeks to zero
polymyalgia rheumatica
Taper down gradually to the minimum effective dose (often <5 mg daily) according to the
clinical response and the ESR and CRP. Aim for treatment for 2 years. Relapses are common.
If complicated (e.g. evolving visual loss) give IV methylprednisolone for 3 days prior to oral
agents.
Prednisolone
Azathioprine or methotrexate can be used as steroid-sparing agents.
Giant cell arteritis and polymyalgia rheumatica
In ____________________, a delay in diagnosis after presenting with amaurosis fugax and
non-specific symptoms can have tragic consequences, in the form of ischaemic
events such as blindness and strokes.
giant cell arteritis
is a systemic (multiorgan) vasculitis of unknown aetiology, affecting veins and
arteries of all sizes. The main feature is painful oral ulceration and the hallmark is the ‘pathergy’
reaction whereby simple trauma such as a pinprick can cause a papule or pustule to form within a
few hours at the site.
Behçet syndrome2
Male to female ratio = 2:1 Recurrent oral and/or genital ulceration Arthritis (usually knees) Skin changes, e.g. erythema nodosum Ocular symptoms—pain, reduced vision, floaters (ocular inflammation) There is no specific diagnostic test.
Behçet syndrome2
Associated problems/complications: repeated uveitis and retinitis → blindness, colitis, venous
thrombosis, meningoencephalitis.
Treatment: high-dose steroids and specific ulcer treatment. DMARDs or bDMARDs may be
required.
Behçet syndrome
Patients with Behçet eye disease should be referred promptly for an
ophthalmological opinion, which may be sight-saving
Behçet syndrome
this rare vasculitis of unknown cause has a classic
triad: upper respiratory tract (URT) granuloma, fleeting pulmonary shadows (nodules) and
glomerulonephritis. Without treatment it is invariably fatal and sometimes the initial diagnosis is
that made at autopsy. It is difficult to diagnose, especially as the patient (usually young to
middle-aged) presents with a febrile illness and respiratory symptoms, but early diagnosis is
essential. It usually gets confused with benign nasal conditions.
Granulomatosis2 with polyangiitis
Adolescence to elderly, mean age 40–45 years
Constitutional symptoms (as for PN)
Lower respiratory tract (LRT) symptoms (e.g. cough, dyspnoea)
Oral ulcers
Upper respiratory symptoms: rhinorrhoea, epistaxis, sinus pain, nasal septum loss, ear
dysfunction
Eye involvement—orbital mass
Polyarthritis
Kidney involvement—usually not clinically apparent (about 75% get glomerulonephritis)
Chest X-ray points to diagnosis—multiple nodes, cavitations
Antineutrophil antibodies (c-ANCA) are a useful diagnostic marker (not specific)
Diagnosis confirmed by biopsy, usually an open l
Granulomatosis2 with polyangiitis
DxT malaise + URTs (e.g. rhinitis, sinusitis) + LRTs (e.g. wheeze, cough)
→
Granulomatosis2 with polyangiitis
DxT asthma + rhinitis + vasculitis + hypereosinophilia →
Churg−Strauss
vasculitis
It is invariably binocular, which usually results from extraocular muscular
imbalance or weakness.
Diplopia
Test for double vision with each eye occluded. If diplopia persists, it is uniocular. If, however,
double vision disappears when either eye is covered, there is a defect of one of the muscles
moving the eyeball. Determine whether diplopia occurs in any particular direction of gaze. It is
most marked when moved in the direction of action of the weak muscle. Ask the patient to
follow your finger, red pin or penlight with both eyes and move it in an H pattern.
3rd nerve—eye turned out: divergent squint
6th nerve—failure to abduct: convergent squint (see FIG. 22.1 )
Diplopia
signs occur when a lesion has interrupted a neural pathway at a level above the anterior
horn cell.2 Examples include lesions in motor pathways in the cerebral cortex, internal capsule,
brain stem or spinal cord.
UMN
Clinical examples include stroke (thrombosis, embolism or haemorrhage in the brain), tumours
of the various pathways, demyelinating disease (e.g. multiple sclerosis)
UMN signs
occur when a lesion interrupts peripheral neural pathways from the anterior horn cell,
that is, the spinal reflex arc.
Lower motor neurone lesions
Clinical examples include peripheral neuropathy, Guillain–Barré syndrome, poliomyelitis and a
thickened peripheral nerve (e.g. leprosy).
Lower motor neurone lesions
is a progressive neuromuscular disorder resulting in muscular limb and bulbar weakness
due to death of motor neurones in the brain, brain stem and spinal cord
Motor neurone disease (MND)
The sensory system is not involved, nor the cranial nerves to the eye muscles.
Motor neurone disease (MND)
Five to 10% of MND is inherited with an
autosomal dominant pattern; the rest is sporadic.
Motor neurone disease (MND)
amyotrophic lateral sclerosis (Lou Gehrig disease)—combined LMN muscle atrophy plus
UMN hyper-reflexia, leading to progressive spasticity. This is the most common type.
Motor neurone disease (MND)
progressive muscle atrophy—wasting beginning in the distal muscles; widespread
fasciculation
Motor neurone disease (MND)
progressive bulbar (LMN) palsy and pseudobulbar palsy (LMN lesions in the brain stem
motor nuclei). Results in wasted fibrillating tongue, weakness of chewing and swallowing, and
of facial muscles.
Motor neurone disease (MND)
Weakness or muscle wasting—first noticed in hands (weak grip) or feet
Stumbling (spastic gait, foot drop)
Difficulty with swallowing
Difficulty with speech, for example, slurring, hoarseness
Fasciculation (twitching) of skeletal muscles and fibrillating tongue
Cramps
Emotional instability, depression
± Muscle pain
Motor neurone disease (MND)
is incurable and progresses to death usually within 3–5 years from ventilatory
failure/aspiration pneumonia.
Motor neurone disease (MND)
No treatment is proven to influence outcome although riluzole, a sodium channel blocker,
appears to slow progression slightly. Baclofen 10 mg bd may help symptoms of cramp.
Botulinum toxin may help spasticity and propantheline or amitriptyline for drooling.
Multidisciplinary care is essential. Management is supportive.
Motor neurone disease (MND)
The tremor of PD is present at rest. The hand tremor is most marked with the arms supported on
the lap and during walking. The characteristic movement is ‘pill-rolling’ where movement of the
fingers at the metacarpophalangeal joints is combined with movements of the thumb.
Resting tremor—Parkinsonian
The resting
tremor decreases on finger–nose testing. The best way to evoke the tremor is to distract the
patient, such as focusing attention on the left hand with a view to ‘examining’ the right hand or
by asking the patient to turn the head from side to side.
Resting tremor—Parkinsonian
This fine tremor is noted by examining the patient with the arms outstretched and the fingers
apart. The tremor may be rendered more obvious if a sheet of paper is placed over the dorsum of
the hands. The tremor is present throughout movement, being accentuated by voluntary
contraction.
Action or postural tremor
Essential tremor (also called familial tremor or benign essential tremor)
Senile tremor
Physiological
Anxiety/emotional
Hyperthyroidism
Alcohol
Drugs, for example, drug withdrawal (e.g. heroin, cocaine, alcohol), amphetamines, lithium,
sympathomimetics (bronchodilators), sodium valproate, heavy metals (e.g. mercury), caffeine,
amiodarone
Phaeochromocytoma
Action or postural tremor
This coarse oscillating tremor is absent at rest but exacerbated by action and increases as the
target is approached. It is tested by ‘finger–nose–finger’ touching or running the heel down the
opposite shin, and past pointing of the nose is a feature. It occurs in cerebellar lobe disease, with
lesions of cerebellar connections and with some medications.
Intention tremor (cerebellar disease)
A flapping or ‘wing-beating’ tremor is observed when the arms are extended with
hyperextension of the wrists. It involves slow, coarse and jerky movements of flexion and
extension at the wrists.
Note: Flapping (asterixis) is not strictly a tremor
Flapping (metabolic tremor)
Wilson syndrome Hepatic encephalopathy Uraemia Respiratory failure Lesions of the red nucleus of the midbrain (the classic cause of a flap)
Flapping (metabolic tremor)
which is probably the most common movement disorder (2–5% prevalence),
has been variously called benign, familial, senile or juvenile tremor.
Essential tremor
Autosomal dominant disorder (variable penetrance)
Often begins in early adult life, even adolescence
Usually begins with a slight tremor in both hands
May involve head (titubation), chin and tongue and rarely trunk and legs
Interferes with writing (not micrographic), handling cups of tea and spoons, etc.
Tremor most marked when arms held out (postural tremor); less evident at rest
Tremor exacerbated by anxiety
May affect speech if it involves bulbar musculature
Relieved by alcohol
Can swing arm and gait normal
Essential tremor
Positive family history
Tremor with little disability
Normal gait
Essential tremor
This is not always easy as a postural tremor can be present in PD, although the hand tremor is
most marked at rest with the arms supported on the lap. Parkinsonian tremor is slower at 4–6 Hz
while essential tremor is much faster at around 8–13 Hz. Imaging is unnecessary
Distinguishing essential tremor from Parkinson disease
A most useful way to differentiate the two causes is to observe the gait. It is normal in essential
tremor but in PD there may be loss of arm swing and the step is usually shortened with stooped
posture and shuffling gait.
Distinguishing essential tremor from Parkinson disease
use propranolol (first choice) or primidone 62.5 mg nocte (up to 250 mg).3 A typical
starting dose of propranolol is 10–20 mg bd; many require 120–240 mg/day.3 If the tremor is
only intrusive at times of increased emotional stress, intermittent use of benzodiazepines (e.g.
lorazepam 1 mg) 30 minutes before exposure to the stress may be all that is required. Modest
alcohol intake (e.g. a glass of whisky) is very effective. A standard drink of alcohol often
alleviates the tremor. Larger doses of alcohol have no additional effect. If drugs fail, deep brain
stimulation to the thalamus can be used.
Essential tremor
is a disorder of the automatic processor of the brain which relies on
dopamine to maintain movements at a selected size and speed. Loss of dopamine causes
movements to become smaller and slower. The pathological features are loss of dopamineproducing
neurones from the substantia nigra in the brain stem together with Lewy bodies in the
neurones.4 Genetic factors occur in 5% of individuals.
Parkinson disease
One of the most important clinical aspects of PD, which has a slow and insidious onset, is the
ability to make an early diagnosis. Sometimes this can be very difficult, especially when the
tremor is absent or mild, as occurs with the atherosclerotic degenerative type of Parkinsonism.
The lack of any specific abnormality on special investigation leaves the responsibility for a
diagnosis based on the history and examination. As a general rule of thumb the diagnosis of PD
is restricted to those who respond to levodopa (L-dopa)—the rest are termed Parkinsonism or
‘Parkinson plus’.
Parkinson disease
- Tremor (at rest)
- Rigidity
- Bradykinesia/hypokinesia
- Postural instability
- Gait freezing
≥2 signs = Parkinson disease
Parkinson disease
PD is a most common and disabling chronic neurological disorder. About 90%
are idiopathic.
The prevalence in Australia is 120–150 per 100 000.5 Lifetime risk is 1 in 40.
Parkinson disease
The incidence rises sharply over 70 years of age (peak 65 years).5
The diagnosis is based on the history and examination.
Always think of PD in an older person presenting with falls.
A reduced sense of smell is one of the first symptoms. Others that may precede
PD include constipation, REM sleep disorders and orthostatic hypotension.
Non-motor automatic dysfunctions: cognition, behaviour, mood.
Hemi-parkinsonism can occur; all the signs are confined to one side and thus
must be differentiated from hemiparesis. In fact, most cases of PD start
unilaterally.
Always consider drug-induced Parkinsonism. The usual drugs are
phenothiazines, butyrophenones and reserpine. Tremor is uncommon but rigidity
and bradykinesia may be severe.
Other causes include vascular (atherosclerosis) and normal pressure
hydrocephalus.
Parkinson disease
Power, reflexes and sensation are usually normal.
Muscle tone is increased: patients display cogwheel or lead-pipe rigidity when tested at wrist.
The earliest abnormal physical signs to appear are loss of dexterity of rapid alternating
movements and absence of arm swing, in addition to increased tone with distraction.
Positive frontal lobe signs, such as grasp and glabellar taps (only allow three blinks), are more
common with Parkinsonism.
Note: There is no laboratory test for PD—it is a clinical diagnosis. Hypothyroidism and
depression, which also cause slowness of movement, may cause confusion with diagnosis.
Note: The Steele–Richardson–Olszewksi syndrome (also known as progressive supranuclear
palsy—PSP parkinsonism, mild dementia and vertical gaze dysfunction) is worth considering
Parkinson disease
Walking sticks (which spread the centre of gravity) with appropriate education into their use may be necessary to help prevent falls, and constant care is required. Admission to a nursing home for end-stage disease may be appropriate. Correct dopamine deficiency and/or block cholinergic excess in the brain
Parkinson disease
Avoid postponing treatment. It should be commenced as soon as symptoms interfere with
working capacity or the patient’s enjoyment of life. This will be apparent only if the correct
questions are asked as the patient may accept impaired enjoyment without appreciating that it is
due to PD. Start low—L-dopa 100/25 (½ tab bd) and go slow. There is usually no difference
between the L-dopa preparations. The dosage should be tailored so that the patient neither
develops side effects nor is on an inadequate dose of medication without significant therapeutic
benefit (see TABLE 22.6 ). The dose usually progresses to 1 tab bd, then consider add-on
therapy.
Parkinson disease
The older drugs, such as anticholinergics and amantadine, still have a place in modernmanagement but L-dopa, which basically counters bradykinesia, is the best drug and the baseline
of treatment. With the onset of disability (motor disturbances), L-dopa in combination with a
decarboxylase inhibitor (carbidopa or benserazide) in a 4:1 ratio should be introduced. L-dopa
therapy does not significantly improve tremor but improves rigidity, dyskinesia and gait disorder.
It is preferred in those >70 years.10 Consider benzhexol or benztropine if tremor is the feature,
especially in young patients.
The new non-ergot derivative dopamine agonists (e.g. pramipexole and rotigotine) can be used in
treatment, especially with the L-dopa ‘on–off’ phenomenon (fluctuations throughout the day),
and also as first-line monotherapy in early PD in certain circumstances and with caution.8 They
are preferred to the ergot derivatives because of a superior adverse effect profile. They appear to
be most effective when used in combination. The ergot derivatives can have serious adverse
effects, including cardiac valve damage, and are no longer recommended. Selegiline is an
effective second-line drug, especially in combination with Sinemet. If there is associated pain,
depression or insomnia, the tricyclic agents (e.g. amitriptyline) can be effective
Parkinson disease
Mild (minimal disability):
L-dopa preparation (low dose), e.g. L-dopa 100 mg + carbidopa 25 mg (½ tab bd—increase
gradually as necessary to 1 tab (o) tds)
or
amantadine 100 mg (o) daily may help the young or the elderly for up to 12 months—if
inadequate response
selegiline up to 5 mg bd can be added to L-dopa if necessary
Moderate (independent but disabled, e.g. writing, movements, gait):
L-dopa preparation
selegiline 1 mg bd
and/or
add if necessary—non-ergot
Parkinson disease
Severe (disabled, dependent on others):
L-dopa (to maximum tolerated dose) + non-ergot dopamine agent
add entacapone 200 mg (o) with each dose of L-dopa, e.g. Stalevo
consider antidepressants
Parkinson disease
After 3–5 years of L-dopa treatment, side effects may appear in about one-half of patients:5
involuntary movements—dyskinesia
end-of-dose failure (reduced duration of effect to 2–3 hours only)—consider entacapone
‘on–off’ phenomenon (sudden inability to move, with recovery in 30–90 minutes)
early morning dystonia, such as clawing of toes (due to disease—not a side effect)
Specialist advice is appropriate.
Parkinson disease
apomorphine can be used for severe akinesia not responsive to L-dopa
for nausea and vomiting side effects: domperidone 20 mg (o) tds 24 hours prior to
apomorphine
better control may also be achieved with: amantadine 100 mg (o) bd
duodopa—levodopa into jejunum
Parkinson disease
The preferred method is high-frequency deep brain stimulation via electrodes into the
subthalamic nucleus, which may benefit all major features of the disease. The indication for
surgery such as thalamotomy is erratic and disabling responses to prolonged L-dopa therapy,
especially for annoying dyskinesias. It is considered more appropriate for younger patients with a
unilateral tremor
Parkinson disease
One of the simplest diagnostic tools for PD, as compared with Parkinsonism, is a
trial of therapy with L-dopa. The response is excellent while that for Parkinsonism
is poor.
L-dopa is the gold standard for therapy.
Ensure that a distinction is made between drug-induced involuntary movements
and the tremor of PD.
Keep the dose of L-dopa as low as possible to avoid these drug-induced
involuntary movements.
Practice tips for Parkinson disease
In the elderly with a fractured hip always consider PD (a manifestation of
disequilibrium).
Remember the balance of psychosis and PD in treatment.
Keep in mind the ‘sundown’ effect—patients often go psychotic as the sun goes
down.
Don’t fail to attend to the needs of the family, who often suffer in silence.
If drugs are to be withdrawn they should be withdrawn slowly.
Practice tips for Parkinson disease
is the most common cause of progressive neurological disability in the
20–50 year age group
Multiple sclerosis (MS)
It is generally accepted that MS is an autoimmune disorder. Genetic and
environmental factors are believed to play a role
Multiple sclerosis (MS)
Early diagnosis is difficult because MS is
characterised by widespread neurologic lesions that cannot be explained by a single anatomical
lesion, and the various symptoms and signs are subject to irregular exacerbations and remissions.
Multiple sclerosis (MS)
The lesions are ‘separated in time and space’. The most important issue in diagnosis is the need
for a high index of suspicion. The use of MRI has revolutionised the diagnosis of MS.
Multiple sclerosis (MS)
is a primary demyelinating disorder with demyelination occurring in plaques throughout the
white and grey matter of the brain, brain stem, spinal cord and optic nerves. The clinical features
depend on their location. There is a loss of brain volume
Multiple sclerosis (MS)
There is a variety of types of MS—relapsing remitting (most common), secondary progressive,
progressive relapsing and primary progressive—together with ‘benign’ and ‘malignant’ forms.
Multiple sclerosis (MS)
More common in females (3:1)
Peak age of onset is in the fourth decade
Transient motor and sensory disturbances
UMN signs
Symptoms develop over several days but can be sudden
Monosymptomatic initially in about 80%
Only 20% have a benign disease
multiple sclerosis
Multiple symptoms initially in about 20%
Common initial symptoms include:
visual disturbances of optic neuritis (blurred vision or loss of vision in one eye—sometimes
both); central scotoma with pain on eye movement (looks like unilateral papilloedema)
diplopia (brain-stem lesion)
weakness in one or both legs, paraparesis or monoparesis
sensory impairment in the lower limbs and trunk: numbness, paraesthesia; band-like
sensations; clumsiness of limb (loss of position sense); feeling as though walking on cotton
wool
vertigo (brain-stem lesion)
multiple sclerosis
Subsequent remissions and exacerbations that vary from one individual to another
80% have a relapsing remitting disease
There is a progressive form, esp. in women around 50 years
Anxiety, depression and other mood disorders are common
multiple sclerosis
Bladder disturbances, including retention of urine and urgency
‘Useless hand’ due to loss of position sense
Facial palsy
Trigeminal neuralgia
Psychiatric symptoms
In established disease, common symptoms are fatigue, impotence and bladder disturbances
multiple sclerosis
The diagnosis is clinical along with the MRI and depends on the following determinants
multiple sclerosis
Lesions are invariably UMN.
>1 part of CNS is involved, although not necessarily at time of presentation.
Episodes are separated in time and space.
Practically MS can only be diagnosed after a second relapse or when the MRI shows new
lesions.11
An early diagnosis requires evidence of contrast-enhancing lesions or new T2 lesions on the
MRI indicating dissemination in time.
The diagnostic criteria is based on the internationally accepted 2010 McDonald criteria
multiple sclerosis
Lumbar puncture: oligoclonal IgG detected in CSF in 90% of cases14 (only if necessary)
Visual evoked potentials: abnormal in about 90% of cases
MRI scan: usually abnormal, demonstrating MS lesions in about 90% of cases14
multiple sclerosis
The course is variable and difficult to predict. An early onset (<30 years) is usually ‘benign’
while a late onset (≥50 years) is often ‘malignant’.
MS follows a classic history of relapses and remissions in 80–85% of patients.14
The rate of relapse is about once in 2 years.
About 20% have a progressive course from the onset with a progressive spastic paraparesis
(applies mainly to late-age onset).
The average duration of MS is about 40 years from diagnosis to death.14
A ‘benign’ course occurs in about 30% of patients with 10–20% never suffering major
disability.
The median time to needing a walking aid is 15 years.8
The likelihood of developing MS after a single episode of optic neuritis is about 60%.
multiple sclerosis
All patients should be referred to a neurologist for confirmation of the diagnosis, which must
be accurate.
Explanation about the disorder and its natural history should be given.
Acute relapses require treatment if causing significant disability.
Depression and anxiety, which are common, require early treatment, e.g. paroxetine.
CBT or mindfulness-based interventions.
multiple sclerosis
Mild relapses
Mild symptoms, such as numbness and tingling, require only confirmation, rest and reassurance.
Moderate relapses
Prednisolone—in outpatient setting
Severe relapses or attacks8,15
These attacks include optic neuritis, paraplegia or brain-stem signs. Admit to hospital for IV
therapy:
methylprednisolone 1 g in 200 mL saline by slow IV infusion (1 hour) daily for 3 days
Plasma exchange may be used.
Observe carefully for cardiac arrhythmias
multiple sclerosis
Currently first-line immunomodulators are the interferons, glatiramer acetate and the monoclonal
antibodies natalizumab and alemtuzumab, or others.
Interferon beta-1b (SC injection) and beta-1a (IM injection) appear to be effective (but
expensive) for those with frequent and severe attacks.
New agents being evaluated include teriflunomide, siponimod, daclizumab, ocrelizumab and
Biotin.
multiple sclerosis
Physiotherapy Baclofen 10–25 mg (o) nocte For continuous drug therapy: baclofen 5 mg (o) tds, increasing to 25 mg (o) tds + diazepam 2–10 mg (o) tds An alternative is dantrolene Paroxysmal (e.g. neuralgias) Carbamazepine or gabapentin
multiple sclerosis
The reported efficacy of the cannabis-based medicine Sativex for relaxation, pain and bladder function is still being debated. One RCT showed a positive effect on detrusor activity
multiple sclerosis
refers to all conditions causing nerve damage outside the central
nervous system.
Peripheral neuropathy
It can be a mononeuropathy, such as carpal tunnel syndrome; mononeuropathy
multiplex involving multiple single nerves in an asymmetric pattern (as in vasculitides); or a
polyneuropathy, which is a diffuse symmetric disorder best referred to as PN. It can be classified
according to clinical progression as acute, subacute or chronic. The manifestations can be
sensory, motor, autonomic or mixed (sensorimotor).
Peripheral neuropathy
Sensory symptoms: tingling, burning, numbness in extremities, unsteady gait (loss of position
sense)
Motor symptoms (LMN): weakness or clumsiness in hands, foot/wrist drop
Signs: may be classic ‘glove and stocking’ sensory loss, sensory ataxia, LMN signs—distal
muscle wasting, muscle weakness, reflexes absent or depressed, fasciculations
Peripheral neuropathy
Mostly sensory: diabetes mellitus, vitamin deficiency (folate, B1, B6, B12), alcohol, various
neurotoxic drugs, leprosy, uraemia (CKF), amyloidosis, malignancy
Mostly motor: lead poisoning, porphyria, various neurotoxic drugs, Charcot–Marie–Tooth
syndrome (peroneal muscle atrophy), acquired inflammatory polyneuropathies—acute
(Guillain–Barré syndrome) and chronic (chronic inflammatory demyelinating polyneuropathy)
Peripheral neuropathy
which is a rapidly progressive and treatable cause of PN or ascending
radiculopathy, is potentially fatal. Early diagnosis of this serious disease by the family doctor is
crucial as respiratory paralysis may lead to death. The underlying pathology is segmental
demyelination of the peripheral nerves and nerve roots
Acute inflammatory polyradiculoneuropathy (Guillain–
Barré syndrome)
Weakness in the limbs (usually symmetrical)
Paraesthesia or pain in the limbs (less common)
Both proximal and distal muscles affected, usually starts peripherally and moves proximally
Facial and bulbar paralysis (rare)
Weakness of extraocular muscles (rarely)
Reflexes depressed or absent
Variable sensory loss but rare
Within 3–4 weeks the motor neuropathy, which is the main feature, progresses to a maximum
disability, possibly with complete quadriparesis and respiratory paralysis
Acute inflammatory polyradiculoneuropathy (Guillain–
Barré syndrome)
CSF protein is elevated; cells are usually normal.
Motor nerve conduction studies are abnormal
Acute inflammatory polyradiculoneuropathy (Guillain–
Barré syndrome)
Admit to hospital.
Respiratory function (vital capacity) should be measured regularly (2–4 hours at first).
Tracheostomy and artificial ventilation may be necessary.
Physiotherapy to prevent foot and wrist drop and other general care should be provided.
Acute inflammatory polyradiculoneuropathy (Guillain–
Barré syndrome)
Treatment is with plasma exchange or IV immunoglobulin (0.4 g/kg/day for 5 days), which
may need to be continued monthly.8
Corticosteroids are not generally recommended.
Acute inflammatory polyradiculoneuropathy (Guillain–
Barré syndrome)
About 80% of patients recover without significant disability. Approximately 5% relapse
Acute inflammatory polyradiculoneuropathy (Guillain–
Barré syndrome)
This is an inherited autosomal dominant polyneuropathy with an insidious onset from puberty.
Clinical features include weakness in the legs, variable distal sensory loss and muscle atrophy
giving the ‘inverted champagne bottle’ appearance of the legs. The features vary according to the
various subgroups. Refer for electrodiagnostic studies and specific genetic testing.
Charcot–Marie–Tooth syndrome
is an acquired autoimmune disorder that usually affects muscle
strength. Patients have fluctuating symptoms and variable distribution of muscle weakness. All
degrees of severity, ranging from occasional mild ptosis to fulminant quadriplegia and
respiratory arrest, can occur20 (see TABLE 22.8 ). It is associated with thymic tumour and other
autoimmune diseases, for example, RA, SLE, thyroid and pernicious anaemia.
Myasthenia gravis
Painless fatigue with exercise
Weakness also precipitated by emotional stress, pregnancy, infection, surgery
Variable distribution of weakness:
ocular: ptosis (60%) and diplopia (see FIG. 22.7 ); ocular myasthenia only remains in
about 10%
bulbar: weakness of chewing, swallowing, speech (ask to count to 100), whistling and head
lolling
limbs (proximal and distal)
generalised
respiratory: breathlessness, ventilatory failure
Note: The classic MG image is ‘the thinker’—the hand used to hold the mouth closed and the
head up.
Myasthenia gravis
Serum anti-acetylcholine receptor antibodies
Electrophysiological tests if antibody test negative
CT scan to detect thymoma
Edrophonium test still useful but potentially dangerous (atropine is the antidote)
Myasthenia gravis
Refer for consultant management.
Detect possible presence of thymoma with CT or MR scan of thorax. If present, removal is
recommended.
Thymectomy is recommended early for generalised myasthenia, especially in all younger
patients with hyperplasia of the thymus, even if not confirmed preoperatively.
Plasmapheresis is useful for acute crisis or where temporary improvement is required or
patients are resistant to treatment.
Avoid drugs that are relatively contraindicated.
Pharmacological agents:
anticholinesterase inhibitor drugs, first-line (e.g. pyridostigmine, neostigmine or
distigmine), should be used only for mild-to-moderate symptoms
corticosteroids are useful for all
Myasthenia gravis
The combination of ocular and facial weakness should alert the family doctor to
the possibility of a neuromuscular disorder, especially MG or mitochondrial
myopathy.19 Look for weakness and fatigue.
Beware of facioscapulohumeral dystrophy.
Practice tips for myasthenia gravis
Ptosis may develop only after looking upwards for a minute or longer.
Smiling may have a characteristic snarling quality.
Practice tips for myasthenia gravis
It is worth remembering that the four major causes of ptosis are:
1. 3rd cranial nerve palsy—ptosis, eye facing ‘down and out’, dilated pupil, sluggish light reflex
2. Horner syndrome—ptosis, miosis (constricted pupil), ipsilateral loss of sweating
3. Mitochondrial myopathy—progressive external ophthalmoplegia or limb weakness, induced
by activity—no pupil involvement
4. Myasthenia gravis—ptosis and diplopia, no pupil involvement
Ptosis
are sustained or intermittent abnormal repetitive movements or postures resulting from
alterations in muscle tone. The dystonic spasms may affect one (focal) or more (segmental) parts
of the body or the whole body (generalised).
Dystonia
Misdiagnosis is common as transient symptoms may be mistaken for an
emotional or psychiatric disorder. Many cases take years to diagnose.
Dystonias are often regarded as nervous tics.
The cause is thought to be disorders of the basal ganglia of the brain, but mainly
there is no known specific cause.
Neuroleptic and dopamine receptor blocking agents (e.g. L-dopa,
metoclopramide) can induce a severe generalised dystonia (e.g. oculogyric
crisis) which is treated with benztropine 1–2 mg IM or IV.8 However, L-dopa is
the drug of choice in some L-dopa responsive dystonias
Dystonia
Motor and vocal tics are a feature of Tourette disorder. If socially disabling, treat with:
haloperidol 0.25 mg (o) nocte, very gradually increasing to 2 g (max.) daily7
or
clonidine 25 mcg (o) bd for 2 weeks, then 50–75 mcg bd
Tics
Idiopathic facial (7th nerve) palsy, which is an acute unilateral lower motor neurone paresis or
paralysis, is the commonest cranial neuropathy. The classic type is Bell palsy, which is usually idiopathic although attributed to an inflammatory swelling involving the facial nerve in the bony
facial canal. In Ramsay–Hunt syndrome, which is due to infection with herpes zoster causing
facial nerve palsy, vesicles may be seen on the ipsilateral ear.
Facial nerve (Bell) palsy15
Associations: herpes simplex virus (postulated) diabetes mellitus hypertension thyroid disorder, e.g. hyperthyroidism
Facial nerve (Bell) palsy
Abrupt onset (can worsen over 2–5 days)
Weakness in the face (complete or incomplete)
Preceding pain in or behind the ear
Impaired blinking
Bell phenomenon—when closing the eye it turns up under the half-closed lid
Less common:
difficulty eating
loss of taste—anterior two-thirds of tongue
hyperacusis
Facial nerve (Bell) palsy
prednisolone 1 mg/kg (o) up to 75 mg (usually 60 mg) daily in the morning for 5 days (start
within 48 hours of onset)
Note: This is controversial, but recent randomised trials and a Cochrane review support the use
of prednis(ol) one. No good evidence for antiviral drugs, but low-grade evidence for benefit if
combining with a corticosteroid.
Patient education and reassurance
Adhesive patch or tape over eye if corneal exposure (e.g. windy or dusty conditions, during
sleep)
Artificial tears if eye is dry and at bedtime
Facial nerve (Bell) palsy
Massage and facial exercises during recovery
Note:
At least 70–80% achieve full spontaneous recovery; higher if mild. Remission should begin
within 1 week of onset.
Electromyography and nerve excitability or conduction studies are a prognostic guide only.
No evidence that nucleoside analogue, for example, aciclovir, is useful but should be used for
Ramsay–Hunt syndrome.
No evidence that surgical procedures to decompress the nerve are beneficial
Facial nerve (Bell) palsy
dysarthria + intention tremor + nystagmus
→ cerebellar disease
typical of MS
visual disturbance (blurred or transient loss) + weakness in limbs ± paraesthesia in limbs
→ multiple sclerosis
rigidity + bradykinesia + resting tremor
→ Parkinson disease
tremor (postural or action) + head tremor + absence of
Parkinsonian features
→ essential tremor
fatiguable and weakness of eyelids and eye
movements + limbs + bulbar muscles (speech and
swallowing)
→ myasthenia gravis
ascending weakness of limbs + of face + areflexia*
→ Guillain–Barré
syndrome (GBS)
(episodic) vertigo + tinnitus + hearing loss
→ Ménière syndrome
dementia + myoclonus + ataxia
→ Creutzfeldt–Jakob
disease
drowsiness + vomiting + headache (waking)
→ ↑ intracerebral
pressure
enophthalmos + meiosis + ptosis ± anhydrosis
→ Horner syndrome
blank spell + lip-smacking (or similar automation) +
olfactory/gustatory hallucination
→ complex partial
seizure
gradual spread (Jacksonian march) of focal jerking
(mouth, arm or leg) or sensory disturbance or (rarely)
visual field disturbance
→ simple partial
seizure
↑ intracranial pressure +/or focal signs +/or epilepsy
→ cerebral tumour
dysphagia + dysphonia/dysarthria + spastic tongue
→ pseudobulbar
palsy
recurrent: headache (often unilateral) + nausea (±
vomiting) + visual aura*
→ migraine with aura
(formerly ‘classical
recurrent: severe retro-orbital headache + rhinorrhoea
+ lacrimation*
→ cluster headache
instantaneous: headache ± vomiting ± neck stiffness
→ subarachnoid
haemorrhage until
disproven
headache + visual obscurations + papilloedema (often
in obese young female)
→ benign intracranial
hypertension
acute and transient: amaurosis fugax or dysphasia or
hemiplegia*
→ TIA (carotid)
typical facies (temporalis atropy and frontal balding) + muscle weakness esp. hands (± myotonia) + cataracts
→ dystrophia
myotonica (myotonic
dystrophy)
vertigo + provoked by movement (especially rolling in
bed) + Hallpike test +ve
→ BPPV
UMN signs + LMN signs + fasciculations
→ motor neurone
disease
leg weakness + ataxic gait + clumsiness (appears
about 12 years)
→ Friedreich ataxia
limb weakness + flaccid paralysis (day after exercise in
a young person)
→ familial periodic
paralysis
which is a disorder of iron overload, is the most common
serious single gene genetic disorder in our population.
Hereditary haemochromatosis (HHC),
It is a common condition in which the total body iron concentration is increased to 20–60 g
(normal 4 g). The excess iron is deposited in and can damage several organs:
liver—cirrhosis (10% develop cancer)
pancreas—‘bronze’ diabetes
Hereditary haemochromatosis (HHC),
skin—bronze or leaden grey colour
heart—restrictive cardiomyopathy
pituitary—hypogonadism, impotence
joints—arthralgia (especially hands), chondrocalcinosis
It is usually hereditary (autosomal recessive = AR) or may be secondary to chronic haemolysis
and multiple transfusions.
Note: Hereditary haemochromatosis is the genetic condition; haemosiderosis is the secondary
condition.
Hereditary haemochromatosis (HHC),
Being an autosomal recessive disorder, the patient must inherit two altered (mutated) copies of
the gene. It is a problem mainly affecting Caucasians, usually from middle age onwards. About 1
in 10 people are silent carriers of one mutated gene, while 1 in 200 are homozygous and are at
risk of developing haemochromatosis. These people can have it to a variable extent (the
penetrance factor), and some are asymptomatic while others have a serious problem. It is rare for
symptoms to manifest before the third decade.
Hereditary haemochromatosis (HHC),
homozygous C282Y—high risk for HHC
homozygous H63D—unlikely to develop clinical HHC
heterozygous C282Y and H63D—milder form of HHC
The key diagnostic sensitive markers are serum transferrin saturation and the serum ferritin level.
The serum iron level is not a good indicator. An elevated ferritin level is not diagnostic of HHC
but is the best serum marker of iron overload.
Hereditary haemochromatosis (HHC),
Most patients are asymptomatic but may have extreme lethargy, abdominal discomfort, signs of
chronic liver disease, polyuria and polydipsia, arthralgia, erectile dysfunction, loss of libido and
joint signs.
Signs: look for hepatomegaly, very tanned skin, cardiac arrhythmias, joint swelling, testicular
atrophy.
Hereditary haemochromatosis (HHC),
Increased serum transferrin saturation: >50% (F); >60% (M)
Hereditary haemochromatosis (HHC),
Increased serum ferritin level: >200 mcg/L (F); >300 mcg/L (M) (see CHAPTER 13 )
CT, MRI or FerriScan—increased iron deposition in liver
Liver biopsy (if liver function test enzymes are abnormal or ferritin >1000 mcg/L or
hepatomegaly)—FerriScan now preferred
Genetic studies: HFE gene—a C282Y and/or H63D mutation
Screen first-degree relatives (serum ferritin levels and serum transferrin saturation in older
relatives and genetic testing in younger ones). No need to screen before adulthood. HbEPG
gene for pregnant patient and partner.
Routine screening not recommended
Note: Full blood count (FBE) and erythrocyte sedimentation rate are normal.
Hereditary haemochromatosis (HHC),
Refer for specialist care
Weekly venesection 500 mL (250 mg iron) until serum iron stores are normal (may take at
least 2 years), then every 3–4 months to keep serum ferritin level <100 mcg/L (usually
40–80 mcg/L), serum transferrin saturation <50% and iron levels normal
Desferrioxamine can be used but not as effective as venesection
Normal, healthy low-iron diet
Avoid or limit alcohol
Avoid iron tablets and vitamin C
Life expectancy is normal if treated before cirrhosis or diabetes develops
Hereditary haemochromatosis (HHC),
is the result of a defect in an ion channel protein, the cystic fibrosis
transmembrane receptor, which is found in the membranes of cells lining the exocrine ducts. The
defect affects the normal transport of chloride ions, leading to a decreased sodium and water
transfer, thus causing viscid secretions that affect the lungs, pancreas and gut.
Cystic fibrosis
The most common AR paediatric illness
About 1 in 2500 Caucasians affected
Cystic fibrosis
About 1 in 20–25 are carriers A mutation (δ-F508) of chromosome 7 is the most common of some 500 possible mutations of the gene. This deletes a single phenylalanine residue from a 1480-amino acid chain.
Cystic fibrosis
General: malaise, failure to thrive, exercise intolerance
Chronic respiratory problems: cough, recurrent pneumonia, bronchiectasis, sinus tenderness,
nasal polyps
Gastrointestinal: malabsorption, pale loose bulky stools, jaundice (pancreatic effect),
meconium ileus (10% of newborn babies)
Infertility in males (atrophy of vas deferens)
Pancreatic insufficiency
Early mortality but improving survival rates (mean age now 31 years)
Cystic fibrosis
DxT failure to thrive + chronic cough + loose bowel actions →
Cystic fibrosis
Screening for immunoreactive trypsin/trypsinogen in newborns detects 75%
Sweat test for elevated chloride and sodium levels
DNA testing for carriers identifies only the most common mutations (70–75%)
cystic fibrosis
Early diagnosis and multidisciplinary team care are important
Physiotherapy for drainage of airway secretions
Hypertonic saline solution (by nebuliser) preceded by a bronchodilator
Treatment of infections: therapeutic and prophylactic antibiotics
Oral pancreatic enzyme replacement
Dietary manipulation
Lung and liver transplantation are considerations
cystic fibrosis
NF1—peripheral neurofibromatosis (von Recklinghausen disorder)
NF2—central type, bilateral acoustic neuromas (schwannomas) (rare)
The gene for NF1 is carried on chromosome 17 and NF2 on chromosome 22. Diagnostic genetic
testing is not routinely available. Diagnosis is by clinical examination.
Neurofibromatosis
DxT light-brown skin patches + skin tumours + axillary freckles →
NF1
Six or more café-au-lait spots (increasing with age)
Freckling in the axillary or inguinal regions
Flesh-coloured cutaneous tumours (appear at puberty)
Hypertension
Eye features (iris hamartomas)
Learning difficulty
Musculoskeletal problems (e.g. scoliosis, fibrous dysplasia, pseudoarthrosis)
Optic nerve gliomas
NF1
Six or more café-au-lait spots (increasing with age)
Freckling in the axillary or inguinal regions
Flesh-coloured cutaneous tumours (appear at puberty)
Hypertension
Eye features (iris hamartomas)
Learning difficulty
Musculoskeletal problems (e.g. scoliosis, fibrous dysplasia, pseudoarthrosis)
Optic nerve gliomas
NF1
One-third asymptomatic, only have skin stigmata
One-third minor problems, mainly cosmetic
One-third significant problems (e.g. neurological tumours)
NF1
No special treatment available
Surgical excisions of neurofibromas as appropriate
Refer to a special clinic, including neurofibroma clinic
Careful surveillance—report new symptoms
Yearly examination for children and adults, including blood pressure, neurological, skeletal
and ophthalmological examination
NF1
is a progressive proximal muscle weakness disorder with replacement of muscle by
connective tissue. Becker muscular dystrophy is a less severe variant. Early diagnosis is
important. First signs are delayed motor development, speech and language.
Duchenne muscular dystrophy (DMD)
DMD is an X-linked recessive condition. It is caused by a mutation in the gene coding for
dystrophin, a protein found inside the muscle cell membrane.
Duchenne muscular dystrophy (DMD)
Usually diagnosed from 2–5 years
Weakness in hip and shoulder girdles
Walking problems: delayed onset or starting in boys aged 3–7
Waddling gait, falls, difficulty standing and climbing steps
Pseudohypertrophy of muscles, especially calves
Most in wheelchair by age 10–12
± Intellectual retardation/learning difficulties
Most die of respiratory problems by age 25
Gower sign: patient uses ‘trick’ method by using hands to climb up his or her legs when rising
to an erect position from the floor
Duchenne muscular dystrophy (DMD)
DxT male child + gait disorder + bulky calves →
Duchenne muscular dystrophy (DMD)
Elevated serum creatinine kinase level
Electromyography
Direct dystrophin gene testing
Muscle biopsy
Duchenne muscular dystrophy (DMD)
Counselling, especially genetic counselling, education, screening (especially mother)
No specific treatment available; support; corticosteroids delay progression
Duchenne muscular dystrophy (DMD)
Claimed to be the leading genetic cause of infant death, SMA includes several types, all
manifesting as progressive muscle wasting and leading to early death in the more severe types
Spinal muscular atrophy (SMA)
SMA is autosomal recessive and due to mutation in SMN1 gene on chromosome 5. Prevalence 1
in 6000–10 000; carriers 1 in 40.
Spinal muscular atrophy (SMA)
Muscle weakness, poor tone and floppiness
Feeding difficulties and feeble cry in babies
Weak swallowing, coughing and breathing
Normal intelligence and sensory modalities
Diagnosis is by DNA screening at birth and EEG studies. There is no cure at present and
treatment is mainly supportive. Zolgensma gene therapy is given as a single IV injection into
children <2 years before symptoms appear. Intrathecal injections of nusinersen are available.
Spinal muscular atrophy (SMA)
About 1 in 25 Ashkenazi Jews is a carrier of Tay–Sachs disease (gangliosidosis), an AR disorder
caused by a total deficiency of hexosaminidase A resulting in an accumulation of gangliosides in
the brain.
Tay–Sachs disease
This autosomal recessive disorder of the catabolism of the amino acid, phenylalanine, is caused
by a deficiency of phenylalanine hydroxylase activity, leading to an elevation of plasma
phenylalanine, which if untreated can cause intellectual disability (often very severe) and other
neurological symptoms, such as seizures. Neonatal screening for high blood phenylalanine levels
(the Guthrie test) is performed routinely.
Phenylketonuria (PKU)10
Tourette syndrome appears to be a genetic condition since a child of a person with TS has a 50%
chance of developing it (possibly AD with variable penetrance).
Tourette syndrome
Inherited as an AD disorder.
The responsible mutant gene has been located on the short arm of chromosome 4.
One genetic mutation accounts for the vast majority of cases, which means that there is an
accurate diagnostic test.
Both sexes are equally affected.
Huntington disease10
DxT chorea + abnormal behaviour + dementia + family history →
Huntington disease
Insidious onset and progression of chorea
Onset most often between 35 and 55 years
Mental changes—change in behaviour (can be as early as childhood or in very late life),
intellectual deterioration leading to dementia
Family history present in the majority
Motor symptoms: flicking movements of arms, lilting gait, facial grimacing, ataxia, dystonia
Usually a fatal outcome 15–20 years from onset
Huntington disease
This is available, sensitive and important because offspring have a 1 in 2 risk and the onset may
be late—after child-bearing years. It is appropriate to refer to expert centres for those seeking it.
Of interest is that only 20% have undergone testing since it became available, indicating that
those at risk generally prefer the uncertainty of not knowing the reality.
Huntington disease
Early-onset familial Alzheimer disease (EoFAD), which accounts for less than 1% of all
Alzheimer disease, is defined as the presence of two or more affected people with onset age <65
years in more than one generation of a family, with postmortem pathologically proven Alzheimer
disease in at least one person. There are two forms of FAD: early onset (EoFAD <65 years) and
late onset (LoFAD). Mutations in any one of three different forms (alleles) of the susceptible
APOE gene are known to cause FAD
Familial Alzheimer disease (FAD)
Most cases are sporadic, and the majority of cases with a family history do not have a clear
inheritance pattern and could be the result of several factors including a genetic predisposition or
simply a chance aggregation. Consider referral to a neurogenetics clinic for families with unusual
features, such as familial aggregation and/or early-onset Parkinson disease.
Parkinson disease
Five to 10% of motor neurone disease is inherited, with an autosomal dominant inheritance
pattern. Inherited MND shows familial aggregation and an earlier age of onset than average (40s
or younger); otherwise clinical features are essentially the same as the sporadic form (see
CHAPTER 22 ). If more than one family member presents with MND consider referral to a
neurogenetic clinic.
Motor neurone disease (MND) (amyotrophic lateral
sclerosis)
the most common human single-gene disorders in the world, are a group of
hereditary disorders characterised by a defect in the synthesis of one or more of the globin chains
(α or β)—there are two of each (α2, β2). This causes defective haemoglobin synthesis leading to
hypochromic microcytic anaemia. α-thalassaemia is usually seen in people of Asian origin while
β-thalassaemia is seen in certain ethnic groups from the Mediterranean, the Middle East, South-
East Asia and the Indian subcontinent. However, in our multicultural communities one cannot
assume a person’s origins. It is recommended that all women of child-bearing age be screened
for thalassaemia. The thalassaemias are described as ‘trait’ when there are laboratory features
without clinical expression.
Thalassaemia
α-thalassaemia is usually due to the deletion of one or more of the four genes for α-globin, the
severity depending on the number of genes deleted: deletion of all four genes—α-thalassaemia
(hydrops fetalis); of three genes—haemoglobin H disease, which results in lifelong anaemia of
mild-to-moderate degree; of one or two genes—a symptomless carrier.
In β-thalassaemia, the β-chains are produced in decreased quantity rather than having large
deletions. People who have two mutations (one in each β-globin gene) have β-thalassaemia
major.
β-thalassaemia minor—a single mutation (heterozygous)—the carrier or trait state
β-thalassaemia major—two mutations (homozygous)—the person who has the disorder
Thalassaemia
If both parents are carriers, there is a 1 in 4 chance that their child will have the disorder.
Clinical features
Carriers are clinically asymptomatic and do not need treatment apart from counselling. Patients
with thalassaemia major present with symptoms of severe anaemia (haemolytic anaemia).
Without treatment, children with thalassaemia major are lethargic and inactive, show a failure to
thrive or to grow normally, and delayed puberty, hepatosplenomegaly and jaundice. Signs
usually appear after 6 months and death from cardiac failure used to be common but with regular
blood transfusions and iron-chelating treatment people can now live in good health
Thalassaemia
DxT pallor + jaundice + hepatosplenomegaly →
thalassaemia major
FBE: in most carriers the mean corpuscular haemoglobin/mean corpuscular volume is low but
can be normal. There is usually mild hypochromic microcytic anaemia but this is severe with
the homozygous type.
Haemoglobin electrophoresis: measures relative amounts of normal adult haemoglobin (HbA)
and other variants (e.g. HbA2, HbF). This will detect most carriers.
Serum ferritin level: helps distinguish from iron deficiency, which has a similar blood film.
DNA analysis: for mutation detection (mainly used to detect or confirm carriers).
thalassaemia major
Treatment is based on a regular blood transfusion schedule for anaemia. Avoid iron supplements.
Folate supplementation and a low-iron diet are advisable. Excess iron is removed by iron
chelation (e.g. desferrioxamine). Allogeneic bone marrow transplantation has been used with
success.16 Splenectomy may be appropriate.
Treatment for thalassaemia major
The most important abnormality in the haemoglobin (Hb) chain is sickle-cell haemoglobin
(HbS), which results from a single base mutation of adenine to thymine, leading to a substitution
of valine for glutamine at position 6 on the β-globin chain. The defective Hb causes the red cells
to become deformed in shape—‘sickled’. The sickled cells tend to flow poorly and clog the
microcirculation, resulting in hypoxia, which compounds the sickling. Such attacks, which result
in tissue infarction, are called ‘crises’. Sickling is precipitated by infection, hypoxia, dehydration,
cold and acidosis, and may complicate operations. The autosomal recessive disorder occurs
mainly in Africans (25% carry the gene), but it is also found in India, South-East Asia, the
Middle East and southern Europe.
Sickle-cell disorders
Heterozygous state for HbS = sickle-cell trait
Homozygous state = sickle-cell anaemia/disease
Sickle-cell disorders
This varies from being mild or asymptomatic to a severe haemolytic anaemia and recurrent
painful crises. It may present in children with anaemia and mild jaundice. Children may develop
digits of varying lengths from the hand-and-foot syndrome due to infarcts of small bones.
Features of infarctive sickle crises include:
bone pain (usually limb bones)
abdominal pain
chest—pleuritic pain
kidney—haematuria
spleen—painful infarcts
precipitated by cold, hypoxia, dehydration or infection
Hb electrophoresis is needed to confirm the diagnosis.
Sickle-cell anaemia
Hb electrophoresis is needed to confirm the diagnosis.
Long-term problems include chronic leg ulcers, susceptibility to infection, aseptic necrosis of
bone (especially head of femur), blindness and chronic kidney disease. The prognosis is variable.
Children in Africa often die within the first year of life. Infection is the commonest cause of
death.
Sickle-cell anaemia
People with this usually have no symptoms unless they are exposed to prolonged hypoxia, such
as anaesthesia and flying in non-pressurised aircraft. The disorder is protective against malaria
Sickle-cell trait
This is the commonest cause of inherited haemolytic anaemia in northern Europeans. It is an
autosomal dominant disorder of variable severity, although in 25% of patients neither parent is
affected, suggesting spontaneous mutation in some instances. Jaundice may present at birth or be
delayed or occur not at all. Splenomegaly is a feature and splenectomy is considered to be the
treatment of choice in severe cases. Maintenance of folic acid levels is important
Hereditary spherocytosis
is a common disorder affecting over 400 million people worldwide. It is the most common red cell enzyme defect that causes episodic haemolytic anaemia because of the
decreased ability of red blood cells to cope with oxidative stresses. It is an X-linked recessive
inherited disorder with a high prevalence among people of African, Mediterranean or Asian
ancestry. In some countries such as Malaysia there is a national screening program.
Glucose-6-phosphate dehydrogenase deficiency
The important clinical features are:
asymptomatic in many
neonatal jaundice—infants at risk should be observed after delivery (at least 5 days)
episodic acute haemolytic anaemia—triggered by antioxidants and infections, and drugs,
especially antimalarials, sulfonamides, nitrofurantoin, quinolones, traditional medicines,
vitamins C and K, high dose aspirin, fava (broad) beans and naphthalene (e.g. moth balls)
There is no specific treatment. Known precipitants should be avoided. Avoid penicillin and
probenecid.
Diagnosis is by G6PD assay and a blood film during an attack.
Glucose-6-phosphate dehydrogenase deficiency
is an inborn error of metabolism in which the body is unable to metabolise
galactose to glucose. There are three clinical syndromes caused by differing enzyme deficiencies,
one of which is galactose-1-phosphate uridyl transferase, which causes the classic syndrome. It is
an autosomal recessive disorder with an incidence of about 1 in 60 000 births. As lactose is the
major source of galactose, the infant becomes anorexic and jaundiced within a few days or weeks
of taking breast milk or lactose-containing formula. It can be rapidly fatal. Management is with a
galactose (mainly lactose)-free formula such as soy with added calcium and vitamins.
Galactosaemia
In inherited bleeding deficiency disorders, there are deficiencies of vital factors (see
CHAPTER 29 ). The common significant disorders are:
haemophilia A (factor VIII deficiency)—X-linked recessive
haemophilia B (factor IX deficiency)—X-linked recessive
von Willebrand disease (deficiency of factor VIII:C + defective platelet factor)—autosomal
dominant
Others to consider are:
hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu disease)
inherited thrombocytopenia
Bleeding disorders
This is an autosomal dominant disorder of the development of vasculature. A strong family
history aids diagnosis.
Key features:
mucocutaneous telangiectasia (Osler–Weber–Rendu syndrome)
recurrent epistaxis in children and adolescents
visceral arteriovenous malformations, e.g. GIT, lips
diagnosis is clinical, aided by imaging to detect AVMs
Hereditary haemorrhagic telangiectasia
This should be considered in patients with a past and/or family history of DVT or other
thrombotic episodes (see CHAPTER 122 ). There are several causes, including important
inherited factors, which are:
factor V Leiden gene mutation (activated protein C resistance)
prothrombin gene mutation
protein C deficiency
protein S deficiency
antithrombin deficiency
It is important to be aware of these factors, especially in people with a past history of
unexplained thrombotic episodes. Prescribing the oral contraceptive pill (OCP) is an issue but
preliminary screening for thrombophilias is not recommended. In factor V Leiden, the most
common factor in this group, there is a 35-fold increased risk of thrombosis for those taking the
OCP.
Thrombophilia
______________________ is based on typical facial features (flat facies, slanting eyes,
prominent epicanthic folds, small ears), hypotonia, intellectual disability and a single palmar
crease.
Down syndrome (trisomy 21)
DxT typical facies + hypotonia + single palmar crease →
Down syndrome
95% have extra chromosome of maternal origin (trisomy 21)
Remainder due to either unbalances, translocations or mosaicism
Prenatal screening tests include early ultrasound (nuchal translucency) and maternal serum
screening in first trimester (serum maternal and fetal DNA). Karyotyping of chorionic villus
sampling on amniocytes for pregnancies at risk is available.
Prevalence 1 in 650 live births
Down syndrome
Seizures (usually later onset) Impaired hearing Leukaemia Hypothyroidism Congenital anomalies (e.g. heart, duodenal atresia, Hirschsprung, TOF) Alzheimer-like dementia (fourth–fifth decade) Atlantoaxial instability Coeliac disease Diabetes
Down syndrome
Assess child’s capabilities
Refer to agencies for assessment (e.g. hearing, vision, developmental disability unit)
Advise on sexuality, especially for females (i.e. menstrual management, contraception) as
fertility must be presumed
Down syndrome
Trisomy 18
Clinical features
These include:
incidence 1 in 2000 live births (approx.)
microcephaly
facial abnormalities, e.g. cleft lip/palate
malformations of major organs, e.g. heart
malformations of hands and feet—clenched hand posture
neural tube defect
Prognosis is poor—about one-third die in first month, <10% live beyond 12 months.
Prenatal diagnosis is available
Edward syndrome10
Trisomy 13 Clinical features These include: incidence 1 in 7000 (approx.) microcephaly brain and heart malformation
Patau syndrome10
presents as a classic physical phenotype with large prominent ears, long narrow face,
macro-orchidism and intellectual disability. It is the most common inherited cause known of
developmental disability and should always be considered. The cause is the result of an increase
in the size of a trinucleotide repeat in the FMR-I gene on the X chromosome (the number of
sequences determines carrier or full mutant status). Any individual with significant development
delay should be tested for FXS.
Fragile X syndrome (FXS)
DxT characteristic facies + intellectual disability + large testes →
FXS
M:F ratio 2:1
Prevalence of full mutation 1 in 4000
Variable spectrum of characteristic features, making detection difficult in some cases
1 in 250 are pre-mutation carriers
Family history of intellectual disability
Affects all ethnic groups
Females may appear normal but may be affected
FXS
Cytogenetic testing (karyotyping) DNA test (specific for full mutation as well as carriers)
FXS
Autism or autistic-like behaviour Attention deficit in 10% (with or without hyperactivity) Seizures (20%) Connective tissue abnormalities Learning disability and speech delay Coordination difficulty Primary ovarian insufficiency Late-onset tremor/ataxia syndrome
FXS
Careful genetic appraisal and counselling
Assessment of child’s capabilities
Multidisciplinary assessment, including developmental disability unit
Referral for integration of speech and language therapy, special education, behaviour
management
Pharmacological treatment of any epilepsy, or attention or mood behaviour disorders
Medications may determine whether the child remains in the community or not
FXS
This uncommon disorder (1 in 10 000–15 000) has classic features, especially a bizarre appetite
and eating habits, of which the GP should be aware. It is probable that there are many
undiagnosed cases in the community. The most common cause is a deletion of the short arm of
chromosome 15.
Prader–Willi syndrome
DxT neonatal hypotonia + failure to thrive + obesity (later) →
Prader–Willi syndrome
Hypotonic infants with weak suction and failure to thrive, then voracious appetite causing
morbid obesity
Usually manifests at 3 years
Prader–Willi syndrome
Intellectual disability
Narrow forehead and turned-down mouth
Small hands and feet
Hypogonadism
Prader–Willi syndrome
Early diagnosis and referral
Multidisciplinary approach
Expert dietetic control
With proper care and support, longevity into the eighth decade is a reality
Prader–Willi syndrome
This is a systemic connective tissue disorder characterised by abnormalities of the skeletal,
cardiovascular and ocular systems. It has variable expressions and is a potentially lethal disorder.
If untreated, death in the 30s and 40s is common.
Marfan syndrome10
DxT tall stature + dislocated lens and myopia + aortic root dilatation →
Marfan syndrome
Mutations in the fibrillin gene on chromosome 15
Autosomal dominant
Marfan syndrome
Disproportionally tall and thin Long digits—arachnodactyly Kyphoscoliosis Joint laxity (e.g. genu recurvatum) Myopia and ectopic ocular lens High arched palate Aortic dilatation and dissection Mitral valve prolapse
Marfan syndrome
Needs surveillance of eyes, heart and thoracic aorta
Echocardiography, possibly aortic root dilatation
Long-term beta blockade therapy reduces rate of dilatation
Consider prophylactic cardiovascular surgery
Genetic counselling for the family
Marfan syndrome
This is an AD disorder with mutation of chromosome 11. It has been described as a male Turner
syndrome but affects both sexes
Noonan syndrome
DxT facies + short stature + pulmonary stenosis →
Noonan syndrome
Characteristic facies—down-slanting palpebral fissures, widespread eyes, low-set ears ± ptosis
Short stature
Noonan syndrome
Pulmonary valve stenosis Webbed neck Failure to thrive, usually mild Abnormalities of cardiac conduction and rhythm ± Intellectual disability
Noonan syndrome
This is due to an extra X chromosome, resulting in a male phenotype and occurring in 1 in 800
live births. Approximately 2 out of 3 are never recognised.
Klinefelter syndrome10
DxT lanky men + small testes + infertility →
Klinefelter syndrome10
47, XXY genotype
The extra X chromosome is usually of maternal origin
About 30 or more variants of the disorder
Klinefelter syndrome
tall men with long limbs
small firm testes ≤2 cm (10 mL)
infertility (azoospermia)
There may be:
sparse facial hair
reduced libido
learning difficulties, especially reading
intellectual ability may range from normal to disability
increased risk of DVT, breast cancer and diabetes (screening indicated)
Klinefelter syndrome
Increased gonadotrophin, low to normal testosterone
Klinefelter syndrome
Transdermal testosterone
Klinefelter syndrome
This is due to only one X chromosome, occurring in 1 in 4000 live female newborns; 99% of
conceptions are miscarried.
Turner syndrome (gonadal dysgenesis)
DxT short stature + webbed neck + facies →
Turner syndrome
45 chromosomes of XO karyotype (typical Turner karyotype in 50% of cases)
Many are mosaics (e.g. 45X/46XX chromosomes)
Phenotypes vary
Turner syndrome
Short stature—average adult height 143 cm
Primary amenorrhoea in XO patient; infertility
Webbing of neck
Typical facies: micrognathia, low hairline
Lymphoedema of extremities
Cardiac defects (e.g. coarctation of aorta)
Mental deficiency is rare.
Turner syndrome
Hormone-based (e.g. growth hormone, hormone replacement therapy)
Turner syndrome
DxT abnormal facies + growth retardation + microcephaly + history of
alcohol intake during pregnancy →
fetal alcohol spectrum disorder
Markedly underweight until puberty Learning difficulties Microcephaly Characteristic facies (needs 2 of *) shortened palpebral fissures* long, smooth featureless philtrum
Fetal alcohol syndrome
Hyperactivity
Congenital heart disease often seen
Skeletal abnormalities
Diagnosis based on alcohol history in pregnancy
Fetal alcohol syndrome
This is an autosomal dominant condition with predisposition to ventricular arrhythmias,
syncopal/fainting spells and sudden death, particularly during exercise. Confirm or exclude by
ECG when suspected—interval 0.5–0.7 seconds. Management includes sports restrictions, beta
blockers and pacemaker or AICD.
Congenital long QT syndrome
This is an AD disorder with several genetic mutations. It is the most common cause of sudden
cardiac death among athletes.
Familial hypertrophic cardiomyopathy
Fatigue
Exertional dyspnoea and chest pain
Palpitations
Dizziness/syncope
Diagnosis by ECG (LV hypertrophy) and doppler echocardiography.
Insertion of AICD may prevent sudden death.
Familial hypertrophic cardiomyopathy
There are several types of genetic disorder of lipid metabolism including the better-known
familial hypercholesterolaemia and familial combined hyperlipidaemia. The former is identified
by elevated cholesterol, corneal arcus juvenalis, tendon xanthomas in the patient or their firstand
second-degree relatives and also by a DNA mutation. Homozygous patients present with
atherosclerosis disease in childhood and early death from myocardial infarction. Heterozygotes
may develop the disorder in their 30s or 40s
Familial hyperlipoproteinaemia20
Mutations in either of the two genes—BRCA1 and BRCA2—result in a strong predisposition
for both breast and ovarian cancer
Mutations present in about 1 in 800 of the general population (male and female), who are
carriers
Dominant inheritance
The risk of developing breast cancer is 10-fold and 40–80% of cases occur before the age of
70 years22
The prognosis in these women is the same as for sporadic cases
Early age of onset of breast cancer
Male breast cancer (6% in males with BRCA2 gene mutation)
Coexistence of ovarian and breast cancer in the same family
Carriers of mutations may be at an increased risk of prostate cancer, pancreatic cancer and
colorectal cancer, although this is controversial for the latter two
Features of breast–ovarian cancer syndrome
Two first-degree or second-degree relatives on one side of the family with cancer
Individuals with age of onset of cancer <50 years
Individuals with bilateral or multifocal breast cancer
Individuals with ovarian cancer
Breast cancer in a male relative
Jewish ancestry
Risk indicators for familial breast–ovarian cancer
Both sexes have a risk of approximately 5% of developing bowel cancer in their lifetime. In some this risk is increased due to an inherited predisposition.
The two key disorders are HNPCC and FAP.
Colorectal cancer21
Caused by a defect in one of the genes responsible for DNA mismatch repair
Affects 1 in 1000 individuals
Autosomal dominant
Early age of onset
Increased risk of certain extracolonic cancers, including endometrial, stomach, ovary and
kidney tract cancers
Screening should occur every 1–2 years from 25 years of age or 5 years earlier than affected
family member developed it
Lynch syndrome (hereditary non-polyposis colorectal cancer)
Less common than HNPCC; affects about 1 in 10 000
Caused by a mutation in the APC gene
Usually hundreds or thousands of polyps
Eventually almost 100% of cases develop colon cancer without prophylactic colectomy
Median age of diagnosis 40 years
Small increased risk of other cancers (e.g. thyroid, cerebral)
Screening should occur annually from between 12–15 and 30–35 years of age, and then every
3 years
Familial adenomatous polyposis
For Lynch syndrome (HNPCC):
Three or more close relatives with bowel cancer
Two or more close relatives with bowel cancer and:
more than one bowel cancer in same relative
Individuals at risk Familial adenomatous polyposis
an inherited mutation in certain genes (e.g. BRAF gene) is considered to be
involved in up to 5% of melanomas. Having a first-degree relative affected almost doubles a
person’s risk.
Melanoma:
family history is a risk factor; some genes (e.g. BRAC1 and BRAC2) are susceptible.
Refer if a significant family history
Prostate:
which is due to a deficiency of the lysosomal enzyme glucocerebrosidase, leads
to anaemia and thrombocytopenia as a result primarily of hypersplenism. There is chronic bone
pain and ‘crises’ of bone pain. Consider it in children with fatigue, bone pain, delayed growth,
epistaxis, easy bruising and hepatosplenomegaly. Replacement enzyme therapy is available.
Gaucher disease
This is a group of inherited disorders caused by a deficiency of one or more enzymes involved in
glycogen breakdown, leading to the deposition of abnormal amounts of glycogen in tissues,
especially the liver. The best-known type is 1A (von Gierke disorder), an autosomal recessive
disorder due to deficiency of glucose-6-phosphatase (G-6-P). It is seen in several ethnic groups.
It typically causes growth retardation, hepatomegaly, renomegaly, hypoglycaemia (can be
severe), lactic acidosis and hyperlipidaemia. Children have characteristic morphological features
—short, doll-like facies with fat cheeks, thin extremities and large abdomen (hepatomegaly
Glycogen storage disease (liver glycogenoses)
Diagnosis is by abnormal plasma lactate and lipid levels, liver biopsy and recently by gene
analysis for the G-6-P gene.
Treatment is aimed to prevent hypoglycaemia and lactic acidosis via frequent carbohydrate
feedings, such as uncooked cornstarch and overnight nasogastric glucose infusion. The prognosis
is poor.
Glycogen storage disease (liver glycogenoses)
The three most common porphyrias are acute intermittent porphyria, porphyria cutanea tarda (the
The porphyrias
DxT severe abdominal pain + abnormal illness behaviour + ‘red’ urine →
acute intermittent porphyria
Approximately 2% of births are associated with congenital abnormalities, of which 1 in 7 are
chromosomal, the most common of which is Down syndrome (trisomy 21). Antenatal screening
tests that can now be performed for several conditions are mainly
Prenatal screening and diagnosis of genetic
disorders24
screening tests for Down syndrome and other trisomies
screening tests for thalassaemias/haemoglobinopathies
second-trimester ultrasound scans for fetal abnormalities, such as neural tube defects (NTD)
and abdominal wall defects (AWD)
Prenatal screening and diagnosis of genetic
disorders24
This has a live birth incidence of 1.4 per 1000 in Australia.20 The risk of conceiving a child with
Down syndrome increases proportionally with age. For a woman aged 21, it is 1 in 1000, while
for a woman aged 35, it is 1 in 275 and for a woman aged 45, it is 1 in 20.
The tests available to test for Down syndrome include the following’:5,25,26
1. combined first-trimester screening tests (maternal serum screening/MSST; cell-free fetal DNA
at 10–12 weeks gestation; nuchal translucency ultrasound at 11–14 weeks)
2. second-trimester MSST (4 analytes): alpha fetoprotein, oestriol, free beta hCG, inhibin A. This
test is basically for women presenting later in pregnancy. A final risk is calculated by a
computer program which combines other factors such as EDD age and age of gestation
3. non-invasive prenatal test (NIPT) from 10–21 weeks maternal serum. This cell-free DNA
screening should be offered as a choice to women. This aneuploidy test usually covers three
trisomies: 21 Down syndrome, 18 Edward syndrome, 13 Patau syndrome. A follow-up
ultrasound is recommended for Down syndrome. It has the potential to screen multiple
disorders as it examines the genetic material of the fetus in maternal serum
4. diagnostic tests (chorionic villus sampling, amniocentesis). The most reliable method is
obtaining fetal tissue by these last means but there is a significant risk of miscarriage (1 in 100
for chorionic villus sampling and 1 in 200 for amniocentesis)
Screening for Down syndrome
DxT odour + hypertonicity + seizures (infancy) →
maple syrup urine
disease
Fish-like’ mouth with micrognathia
Turner syndrome
‘Chipmunk’ facies
thalassaemia major
The commonest causes of the acute abdomen in a general practice series were: acute appendicitis (21%), the colics (16%) and mesenteric adenitis (16%).
acute abdomen
Colicky midline umbilical abdominal pain (severe) → vomiting → distension =
small bowel obstruction (SBO).
Midline lower abdominal pain → distension → vomiting = large bowel obstruction
(LBO).
If cases of acute abdomen have a surgical cause, the pain nearly always
precedes the vomiting (contrast with gastroenteritis)
Mesenteric artery occlusion must be considered in an older person with
arteriosclerotic disease or in those with atrial fibrillation presenting with severe
abdominal pain or following myocardial infarction.
Up to one-third of presentations of abdominal pain have no specific cause found.
acute abdomen
Common reasons are common: gastroenteritis/food poisoning accounts for so many GP
presentations that occasionally a case will have examination findings of an acute abdomen. The
other most common causes of acute abdomen are acute appendicitis, irritable bowel syndrome,
the various ‘colics’ and ovulation pain (mittelschmerz). Mesenteric adenitis is common in
children. The various causes of chronic or recurrent abdominal pain are presented in
TABLE 24.2 . A study on chronic abdominal pain3 showed that the commonest reasons
(approximate percentages) were no discoverable causes (50%), minor causes including muscle
strains (16%), irritable bowel syndrome (12%), gynaecological causes (8%), peptic ulcers and
hiatus hernia (8%).
acute abdomen
Most of the causes of the acute abdomen are serious and early diagnosis is mandatory to reduce
mortality and morbidity.
Serious disorders not to be missed
It is vital not to misdiagnose a _________________________, which causes lower abdominal or
suprapubic pain of sudden onset, or the life-threatening vascular causes, such as a ruptured or
dissecting aortic aneurysm, mesenteric artery occlusion and myocardial infarction (which can
present as epigastric pain).
ruptured ectopic pregnancy
Perforated ulcers (now uncommon) and strangulated bowel, such as volvulus of the sigmoid and
entrapment of the small bowel in a hernial orifice or around adhesions, also demand an early
diagnosis.
acute abdomen
rapid hypovolaemic shock
Ectopic pregnancy → rapid hypovolaemic shock
Ruptured AAA
peritonitis/pelvic abscess
Gangrenous appendix → peritonitis/pelvic abscess
Perforated ulcer → peritonitis
Obstructed bowel → gangrene
A very common pitfall is missing acute appendicitis, especially in the elderly, in children, in
pregnancy and in those taking steroids, where the presentation may be ____________.
atypical
Early
_______________presents typically with central abdominal pain that shifts to the right iliac fossa
(RIF) some 4–6 hours later. It can be difficult to diagnose early on. It can cause diarrhoea with
abdominal pain, especially if a pelvic appendix, and can be misdiagnosed as acute gastroenteritis.
appendicitis
________________deficiencies, such as lactase deficiency, are associated with cramping abdominal
pain, which may be severe. The pain follows some time, maybe hours, after the ingestion of milk
and is accompanied by the passage of watery stool. The association with milk may go
unrecognised.
Disaccharidase
_________________, especially in the older person with unilateral abdominal pain in the dermatomal
distribution, is a trap. Referred pain from conditions above the diaphragm, such as myocardial infarction, pulmonary embolism and pneumonia, can be misleading. The rare general medical
causes—such as diabetes ketoacidosis, acute porphyria, Addison disease, lead poisoning, tabes
dorsalis, sickle-cell anaemia, haemochromatosis and uraemia—often create a diagnostic
dilemma.
Herpes zoster
Misdiagnosing a ruptured ectopic pregnancy in a woman using contraception or with a history
of normal menstruation or where the brownish vaginal discharge is mistaken for a normal
period.
acute abdomen
Failing to examine hernial orifices in a patient with intestinal obstruction.
Misleading temporary improvement (easing of pain) in perforation of gangrenous appendix or
perforated peptic ulcer.
Overlooking acute mesenteric artery obstruction in an older person with colicky central
abdominal pain.
Attributing abdominal pain, frequency and dysuria to a urinary infection when the cause could
be diverticulitis, pelvic appendicitis, salpingitis or a ruptured ectopic pregnancy.
Failing to examine testes.
acute abdomen
__________________ is hospital admission by deception, often with severe abdominal pain
without convincing clinical signs or abnormal investigation. Diagnosis requires a high level of
suspicion.
Munchausen syndrome
History
The urgency of the history will depend on the manner of presentation, whether acute or chronic.
Pain has to be analysed according to its quality, quantity, site and radiation, onset, duration and
offset, aggravating and relieving factors and associated symptoms and signs.
Special attention has to be paid to:
anorexia, nausea or vomiting
micturition
bowel function
menstruation/contraception
drug intake
acute abdomen
consider mesenteric artery obstruction
Atrial fibrillation:
Pallor and ‘shock’:
acute blood loss
If distension, consider the six Fs:
fat, fluid, flatus, faeces, fetus, frightening growths
haemoglobin—anaemia with chronic blood loss (e.g. peptic ulcer, cancer, oesophagitis)
blood film—abnormal red cells with sickle-cell disease
WCC—leucocytosis with appendicitis (75%),4 acute pancreatitis, mesenteric adenitis (first day
only), cholecystitis (especially with empyema), pyelonephritis
ESR—raised with cancer, Crohn disease, abscess (but non-specific)
C-reactive protein (CRP)—use in diagnosing and monitoring infection, inflammation (e.g.
pancreatic). Preferable to ESR
liver function tests—hepatobiliary disorder
serum amylase and/or lipase (preferable)—if raised to greater than three times normal upper
level acute pancreatitis is most likely; also raised partially with most intra-abdominal disasters
(e.g. ruptured ectopic pregnancy, perforated peptic ulcers, ruptured empyema of gall bladder,
ruptured aortic aneurysm)
faecal elastase—chronic pancreatitis
pregnancy tests—urine or serum β-HCG: for suspected ectopic
Helicobacter pylori testing
urine:
blood: ureteric colic (stone or blood clot), urinary infection
white cells: urinary infection, appendicitis (bladder irritation)
bile pigments: gall bladder disease
porphobilinogen: porphyria (add Ehrlich aldehyde reagent)
ketones: diabetic ketoacidosis
air (pneumaturia): fistula (e.g. diverticulitis, other pelvic abscess, pelvic cancer)
faecal blood—mesenteric artery occlusion, intussusception (‘redcurrant jelly’), colorectal
cancer, diverticulitis, Crohn disease and ulcerative colitis
Investigations acute abdomen
The two main screening tests are ultrasound and CT scan.5 Plain abdominal X-ray is an alternative, if more readily available. The following tests can be considered according to the clinical presentation: ultrasound: good for hepatobiliary system, kidneys and female pelvis. Look for: gallstones ectopic pregnancy pancreatic pseudocyst aneurysm aorta/dissecting aneurysm hepatic metastases and abdominal tumours thickened appendix paracolic collection Note: can be affected by gas shadows
acute abdomen
CT scan: gives excellent survey of abdominal organs including masses and fluid collection:
pancreatitis (acute and chronic)
undiagnosed peritoneal inflammation (best)
trauma
diverticulitis
leaking aortic aneurysm
retroperitoneal pathology
appendicitis (especially with oral contrast)
acute abdomen
plain X-ray abdomen (erect and supine): look for (see FIG. 24.1 ):
kidney/ureteric stones—70% opaque4
biliary stones—only 10–30% opaque
air in biliary tree
calcified aortic aneurysm
marked distension sigmoid → sigmoid volvulus
acute abdomen
distended bowel with fluid level → bowel obstruction
enlarged caecum with large bowel obstruction
blurred right psoas shadow → appendicitis
‘coffee bean’ sign → volvulus
a sentinel loop of gas in left upper quadrant (LUQ) → acute pancreatitis
chest X-ray: air under diaphragm → perforated ulcer
IVP
contrast-enhanced CT or X-ray (e.g. Gastrografin meal): diagnosis of bowel leakage
barium enema
HIDA nuclear scan—diagnosis of acute cholecystitis (good when US unhelpful)
ERCP: shows bile duct obstruction and pancreatic disease
MRI scan (especially useful with contrast)
Other tests:
ECG
endoscopy upper GIT
sigmoidoscopy and colonoscopy
acute abdomen
Upper abdominal pain is caused by lesions of the upper GIT.
Lower abdominal pain is caused by lesions of the lower GIT or pelvic organs.
Early severe vomiting indicates a high obstruction of the GIT.
Acute appendicitis features a characteristic ‘march’ of symptoms: pain → anorexia, nausea →
vomiting.
acute abdomen Diagnostic guidelines
Colicky pain is a rhythmic pain with regular
spasms of recurring pain building to a climax and fading. It is virtually pathognomonic of
intestinal obstruction. Ureteric colic is a true colicky abdominal pain, but so-called biliary colic and kidney colic are not true colics at all.
acute abdomen
Typical pain sites of abdominal pain (general guidelines only) are presented in FIGURE 24.3 .
Epigastric pain usually arises from disorders of the embryologic foregut, such as the oesophagus,
stomach and duodenum, hepatobiliary structures, pancreas and spleen. However, as some
disorders progress the pain tends to shift from the midline to the right (gall bladder and liver) or
left (spleen). Periumbilical pain usually arises from disorders of structures of the embryologic
midgut, while structures from the hindgut tend to refer pain to the lower abdomen or suprapubic
region.
acute abdomen
The intra-abdominal sensory receptors can be considered as innervating visceral or parietal
peritoneum. Visceral mechanoreceptors are triggered by intestinal distension or tension on
mesentery or blood vessels while nociceptors are triggered by mechanical, thermal and chemical
stimuli. The pain from viscera is felt as diffuse and poorly localised, while stimulation of parietal
peritoneal nociceptors gives a pain that is experienced directly at the site of insult.
acute abdomen
Abdominal pain is a common complaint in children, especially recurrent abdominal pain, which
is one of the most common complaints in childhood. The problem causes considerable anxiety in
parents and it is important to differentiate the severe problems demanding surgery from nonsurgical
problems. About one in 15 will have a surgical cause for pain.6 A good rule is to rule out
a urinary infection with urinalysis.
acute abdomen Abdominal pain in children
The causes of abdominal pain can be considered in the diagnostic model category.
1 Common causes/probability diagnosis:
infant ‘colic’
acute abdomen Abdominal pain in children
gastroenteritis (all ages) mesenteric adenitis 2 Serious causes, not to be missed: intussusception (peaks at 6–9 months) acute appendicitis (mainly 5–15 years) bowel obstruction/strangulated hernia
acute abdomen Abdominal pain in children
Pitfalls: child abuse constipation/faecal impaction torsion of testes lactose intolerance peptic ulcer infections: mumps, tonsillitis, pneumonia (esp. right lower lobe), EBM, UTI adnexal disorders in females (e.g. ovarian) acute pancreatitis 4 Rarities: Meckel diverticulitis Henoch–Schönlein purpura sickle crisis lead poisoning 5 Seven masquerades checklist: type 1 diabetes drugs UTI 6 Psychogenic consideration: important cause
acute abdomen Abdominal pain in children
This is the occurrence in a well baby of regular, unexplained periods of inconsolable crying and
fretfulness, usually in the late afternoon and evening, especially between 2 weeks and 16 weeks
of age. No apparent cause can be found, and the word ‘colic’ refers to the historical assumption
that the crying is caused by abdominal pain. It is very common, occurring in about one-third of
infants and lasting for a period of at least three weeks.
Infant ‘colic’ (period of infant distress)
Reassure and explain. Advise the parents:
Use gentleness (such as subdued lighting where the baby is handled, soft music,
speaking softly, quiet feeding times).
Avoid quick movements that may startle the baby.
Make sure the baby is not hungry—avoid underfeeding.
Provide demand feeding (in time and amount).
Make sure the baby is burped, and give posture feeding.
Provide comfort from a dummy or pacifier.
Provide plenty of gentle physical contact.
Cuddle and carry the baby around (e.g. take a walk around the block).
A carrying device such as ‘snuggly’ or ‘Mei Tai Sling’ allows the baby to be carried around at
the time of crying.
Make sure the mother gets plenty of rest during this difficult period.
Do not worry about leaving a crying child for 10 minutes or so after 15 minutes of trying
consolation.
Medication
Drugs are not generally recommended, but some preparations have tradition, if not much science,
behind them (e.g. simethicone [Infacol wind drops]).
Infant ‘colic’ (period of infant distress)
is the diagnosis that should be foremost in one’s mind with a child aged between
3 months and 2 years presenting with sudden onset of severe colicky abdominal pain, coming at
intervals of about 15 minutes and lasting for 2–3 minutes. Early diagnosis, within 24 hours of
onset, is essential, for after this time there is a significant rise in morbidity and mortality. A
segment of bowel telescopes into the adjoining distal segment (e.g. ileocaecal segment), resulting
in intestinal obstruction. It is usually idiopathic but can have a pathological lead point (4–12
years) (e.g. polyp, Meckel diverticulum).
Intussusception
Male babies > female
Range: birth to school age, usually 5–24 months
Sudden-onset acute pain with shrill cry
Vomiting
Intussusception
Lethargy
Pallor with attacks
Intestinal bleeding: redcurrant jelly (60%)7
Intussusception
DxT pale child + severe ‘colic’ + vomiting →
acute intussusception
Signs
Pale, anxious and unwell
Sausage-shaped mass in right upper quadrant (RUQ) anywhere between the line of colon and
umbilicus, especially during attacks (difficult to feel)
Signe de dance (i.e. emptiness in RIF to palpation)
Alternating high-pitched active bowel sounds with absent sounds
Rectal examination: ± blood ± hard lump
acute intussusception
Diagnosis
Ultrasound
Enema using oxygen or barium (with caution) used for diagnosis and treatment
Treatment7
Hydrostatic reduction by air or oxygen from the ‘wall’ supply (preferred) or barium enema
Surgical intervention may be necessary
acute intussusception
Differential diagnosis
Acute gastroenteritis: can be difficult in those cases where there is some loose stool with
intussusception and with blood and mucus without much watery stool in gastroenteritis.
However, usually attacks of pain are of shorter duration, and there is loose watery stool, fever
and no abdominal mass. If doubtful, refer as possible intussusception.
Impacted faeces can lead to spasms of colicky abdominal pain—usually an older child with a
history of constipation.
Other causes of intestinal obstruction (e.g. irreducible inguinal hernia, volvulus, intraabdominal
band).
acute intussusception
Drugs
In any child complaining of acute abdominal pain, enquiry should be made into drug ingestion.
A common cause of colicky abdominal pain in children is cigarette smoking (nicotine); consider
other drugs such as marijuana, cocaine and heroin.
acute intussusception
This may occur at any age, being more common in children of school age (10–12 years) and in
adolescence, and uncommon in children under 3 years of age. Special problems of early
diagnosis occur with the very young (younger than 3 years) and in intellectually disabled
children, many of whom present with peritonitis.
Acute appendicitis in children
Vomiting occurs in at least 80% of children with appendicitis and diarrhoea in about 20%. The
temperature is usually only slightly elevated but in about 5% of cases it exceeds 39°C.
Acute appendicitis in children
In children the physical examination, especially eliciting abdominal (including rebound)
tenderness, and the rectal examination demand considerable tact, patience and gentleness.
Jumping or hopping induces pain
Acute appendicitis in children
A serious point of confusion can occur between pelvic appendicitis, causing diarrhoea and
vomiting, and acute gastroenteritis. A high CRP level >50 mg/L is a feature of appendicitis.6 A
particularly severe case of apparent gastroenteritis, especially if persistent, should be regarded as
pelvic appendicitis until proved otherwise. Ultrasound is the preferred imaging.
Acute appendicitis in children
This presents a difficult problem in differential diagnosis with acute appendicitis because the
history can be very similar. At times the distinction may be almost impossible. In general, with
mesenteric adenitis localisation of pain and tenderness is not as definite, rigidity is less of a
feature, the temperature is higher, and anorexia, nausea and vomiting are also lesser features. The
illness lasts about five days followed by a rapid recovery. Comparisons between the two are
presented in TABLE 24.5 , but if in any doubt it is advisable to consider the problem as acute
appendicitis, admit for observation and be prepared for laparoscopy/laparotomy.
Mesenteric adenitis
can sometimes present an anaesthetic risk and patients are usually quite ill in
the immediate postoperative period. Treatment is symptomatic and includes ample fluids and
paracetamol.
Mesenteric adenitis
can suffer from a wide spectrum of disorders. Ischaemic events, emboli, cancer (in
particular) and diverticulae of the colon are more common in old age; duodenal ulcer is less so.
Those causes of abdominal pain that occur with more frequency include:
vascular catastrophies: ruptured AAA, mesenteric artery occlusion
perforated peptic ulcer
biliary disorders: biliary pain and acute cholecystitis
diverticulitis
sigmoid volvulus
strangulated hernia
Abdominal pain in older people
intestinal obstruction
cancer, especially of the large bowel
herpes zoster, causing unilateral root pain
constipation and faecal impaction
Problems arise with management because the pain threshold is raised (colic in particular is less
severe) and there is an attenuated response to infection so that fever and leucocytosis can be
absent. Non-specific signs, such as confusion, anorexia and tachycardia, might be the only
systemic evidence of infection.
Abdominal pain in older people
An AAA may be asymptomatic until it ruptures or may present with abdominal discomfort and a
pulsatile mass noted by the patient. There tends to be a family history and thus screening is
appropriate in such families. Ultrasound screening is advisable in first-degree relatives over 50
years.
Abdominal aortic aneurysm
The risk of rupture is related to the diameter of the AAA and the rate of increase in diameter. The
normal diameter of the abdominal aorta, which is palpated just above the umbilicus, is
10–30 mm, being 20 mm on average in the adult; an aneurysm is greater than 30 mm in
diameter.9 Refer if ≥40 mm. Greater than 50 mm is significantly enlarged and is chosen as the
arbitrary reference point to operate because of the exponential rise in risk of rupture with an
increasing diameter. Refer all cases. The patency of a Dacron graft after 5 years is approximately
95% (see FIG. 24.5 ). Newer techniques include endovascular aneurysm repair.
Abdominal aortic aneurysm
Investigations
Ultrasound (good for screening) in relatives >50 years (obesity a problem)
CT scan (clearer imaging). Helical/spiral scan is investigation of choice
MRI scan (best definition)
Abdominal aortic aneurysm
This is a real surgical emergency in an elderly person who presents with acute abdominal and
perhaps back pain with associated circulatory collapse (see FIG. 24.6 ). The patient often
collapses at toilet because they feel the need to defecate and the resultant Valsalva manoeuvre
causes circulatory embarrassment.
Rupture of aneurysm
The patient should be transferred immediately to a vascular surgical unit, which should be
notified in advance. Two important emergency measures for the ‘shocked’ patient are
intravenous access for plasma expanding fluid (a central venous line is best if possible) and swift
action.
Rupture of aneurysm
DxT intense abdominal pain + pale and ‘shocked’ ± back pain →
Rupture of aneurysm
Acute intestinal ischaemia arises from superior mesenteric artery occlusion from either an
embolus or a thrombosis in an atherosclerotic artery. Another cause is an embolus from atrial
fibrillation. Necrosis of the intestine soon follows if intervention is delayed.
Mesenteric artery occlusion
Clinical features
Central periumbilical abdominal pain—gradually becomes intense. Patients develop a ‘fear of eating’
Profuse vomiting
Watery diarrhoea—blood in one-third of cases (eventually) (refer to CHAPTER 34 )
Patient becomes confused
Mesenteric artery occlusion
DxT anxiety and prostration + intense central pain + profuse vomiting ±
bloody diarrhoea →
Mesenteric artery occlusion
Signs
Localised tenderness, rigidity and rebound over infarcted bowel (later finding)
Absent bowel sounds (later)
Shock develops later
Tachycardia (may be atrial fibrillation and other signs of atheroma)
Mesenteric artery occlusion
Investigations
CRP may be elevated intestinal alkaline phosphatase.
X-ray (plain) shows ‘thumb printing’ due to mucosal oedema on gas-filled bowel. CT
scanning gives the best definition while mesenteric arteriography is performed if embolus is
suspected. However, it is commonly only diagnosed at laparotomy.
Mesenteric artery occlusion
Management
Early surgery may prevent gut necrosis but massive resection of necrosed gut may be required as
a life-saving procedure. Early diagnosis (within a few hours) is essential.
Note:
Mesenteric venous thrombosis can occur but usually in people with circulatory failure.
Inferior mesenteric artery occlusion is less severe and survival more likely.
Mesenteric artery occlusion
with a volume of 600+ mL usually causes severe lower abdominal pain,
which may not be apparent in a senile or dementing person. Find and treat the cause. Apart from
the common cause of an enlarged prostate or prostatitis, it can also result from bladder neck
obstruction by faecal loading or other pelvic masses or anticholinergic drugs.
Acute retention of urine
Management
Perform a rectal examination and empty rectum of any impacted faecal material.
Catheterise with size 14 Foley catheter to relieve obstruction and drain (give antibiotic cover).
Have the catheter in situ and seek a urological opinion. Send specimen for MCU.
If there is any chance of recovery (e.g. if the problem is drug-induced), withdraw drug, leave
catheter in for 48 hours, remove and give trial of prazosin 0.5 mg bd or terazosin.
In some instances, it may be worth giving analgesics, ambulating the patient and attempting
voiding by standing up to the sound of running water. A hot bath may also provide a simple
solution.
Check for prostate cancer and renal impairment.
Perform neurological examination of lower limbs and perianal area.
Acute retention of urine
is encountered typically in the aged, bedridden, debilitated person. Its clinical
presentation may closely resemble malignant obstruction.10 Spurious diarrhoea can occur, which
is known as ‘faecal incontinence’
Faecal impaction
is mainly a condition of young adults but it affects all ages (although
uncommon under 3 years). Despite its declining incidence, it is the commonest surgical
emergency and special care has to be taken with the very young and the very old. The symptoms
can vary because of the different positions of the appendix. It is basically a clinical diagnosis.
Acute appendicitis
Clinical features
See FIGURE 24.7 . Typical clinical features are:
usually under 30 years of age
initial pain is central abdominal (sometimes colicky)
Acute appendicitis
increasing severity and then continuous
shifts and localises to RIF within 6 hours
may be aggravated by walking (causing a limp) or coughing
sudden anorexia
nausea and vomiting a few hours after the pain starts
± diarrhoea and constipation
Acute appendicitis
DxT localised RIF pain + a/n/v + guarding →
Acute appendicitis
Signs
Patient looks unwell
Flushed at first, then pale
Furred tongue and halitosis
May be febrile—low-grade fever
Tenderness in RIF, usually at McBurney point
Local rigidity and rebound tenderness
Guarding
± Superficial hyperaesthesia
± Psoas sign: pain on resisted flexion of right leg, on hip extension or on elevating
right leg (due to irritation of psoas especially with retrocaecal appendix)
± Obturator sign: pain on the examiner flexing patient’s right thigh at the hip with the knee
bent and then internally rotating the hip (due to irritation of internal obturator muscle)
Rovsing sign: rebound tenderness in RIF while palpating in LIF
PR: anterior tenderness to right, especially if pelvic appendix or pelvic peritonitis
Acute appendicitis
Abscess formation → localised mass and tenderness
Retrocaecal appendix: pain and rigidity less and may be no rebound tenderness; loin
tenderness; positive psoas test
Pelvic appendix: no abdominal rigidity; urinary frequency; diarrhoea and tenesmus; very
tender PR; obturator tests usually positive
Elderly patients: pain often minimal and eventually manifests as peritonitis; can simulate
intestinal obstruction
Pregnancy (occurs mainly during second trimester): pain is higher and more lateral; harder to
diagnose; peritonitis more common
Perforation more likely in those who are very young, elderly or have diabetes
Acute appendicitis
Investigations
Investigations, including imaging, are of limited value:
blood cell count shows a leucocytosis (75%) with a left shift
urea and electrolytes—to assess hydration prior to surgery
Acute appendicitis
CRP—elevated
ultrasound shows a thickened appendix (86% sensitivity, 81% specificity);11 affected by gas
shadow
plain X-ray may show local distension, blurred psoas shadow and fluid level in caecum
CT scan (94% sensitivity, 98% specificity) also allows other causes, especially in the female
pelvis, to be evaluated12
laparoscopy
β-HCG
Acute appendicitis
Management
Immediate referral for surgical removal—the gold standard. If perforated, cover with cefotaxime
and metronidazole. If abscess, radiologic drainage, antibiotics ± interval appendicectomy. It is
reasonable to offer a conservative approach for uncomplicated, low-grade cases, with careful
monitoring and antibiotics in selected patients. One detailed study showed that surgery was the
safest option
Acute appendicitis
The symptoms depend on the level of the obstruction (see TABLE 24.6 ). The more proximal the
obstruction, the more severe the pain.
Small bowel obstruction
Main causes Outside obstruction (e.g. adhesions—commonest cause, previous laparotomy), strangulation in hernia or pockets of abdominal cavity (see FIG. 24.8 )—this may lead to a ‘closed loop’ obstruction.14 Lumen obstructions (e.g. foreign body, trichobezoar, gallstones, intussusception, malignancy).
Small bowel obstruction
Clinical features
Severe colicky epigastric and periumbilical (mainly) pain (see FIG. 24.9 )
Spasms every 3–10 minutes (according to level), lasting about 1 minute
Vomiting
Absolute constipation (nil after bowel emptied)
Small bowel obstruction
DxT colicky central pain + vomiting + distension →
Small bowel obstruction
Signs and tests
Patient weak and sitting forward in distress
Visible peristalsis, loud borborygmi
Abdomen soft (except with strangulation)
Tender when distended
Increased sharp, tinkling bowel sounds
Dehydration rapidly follows, especially in children and elderly
Small bowel obstruction
PR: empty rectum, may be tender
Note: check all hernial orifices, including umbilicus
X-ray: plain erect film confirms diagnosis—‘stepladder’ fluid levels (4–5 for diagnosis) in 3–4
hours
Gastrografin follow-through for precise diagnosis with caution. It can cause severe
diarrhoea and may be therapeutic in adhesive obstruction.
± CT scan (especially if extrinsic causation)
Small bowel obstruction
Management
IV fluids and bowel decompression with nasogastric tube
hernia repair
Small bowel obstruction
Temporary arrest of peristalsis is common after abdominal surgery. Other causes include drugs, e.g. opioids, TCAs. Symptoms Nausea Vomiting Vague abdominal discomfort Distension Constipation/obstipation
Paralytic ileus
Signs Silent abdomen ↓ Bowel sounds Tests X-ray: air accumulation in small bowel and colon
Paralytic ileus
The cause is commonly colorectal cancer (75% of cases), especially on the left side, but it can
occur in diverticulitis or in volvulus of the sigmoid colon (10% of cases) and caecum.10 Sigmoid
volvulus is more common in older men and has a sudden and severe onset. The pain is less
severe than in SBO. Be wary of the non-surgical causes, simple constipation or acute pseudoobstruction
of the colon (Ogilvie syndrome). Consider ileus.
Large bowel obstruction
Clinical features
Sudden-onset colicky pain (even with cancer)
Each spasm lasts less than 1 minute
Usually hypogastric midline pain (see FIG. 24.10 )
Vomiting may be absent (or late)
Absolute constipation (obstipation), no flatus
Large bowel obstruction
DxT colicky pain + distension ± vomiting →
Large bowel obstruction
Signs and tests
Increased bowel sounds, especially during pain
Distension early and marked
Local tenderness and rigidity
PR: empty rectum; may be rectosigmoid cancer or blood. Check for faecal impaction
X-ray: distension of large bowel with separation of haustral markings, especially caecal
distension
Large bowel obstruction
sigmoid volvulus shows a distended loop and ‘coffee bean’ sign Gastrografin enema confirms diagnosis Management Drip and suction Surgical referral
Large bowel obstruction
can cause acute abdominal pain both with and without a prior
history of peptic ulcer. It is an acute surgical emergency requiring immediate diagnosis. Consider
a history of drugs, especially NSAIDs. Perforated ulcers may follow a heavy meal. There is
usually no back pain. May be painless with steroids.
The maximal incidence is 45–55 years and more common in males, and a perforated duodenal
ulcer is more common than a gastric ulcer.
Consider the clinical syndrome in three stages:
1. prostration
2. reaction (after 4 hours)—symptoms may improve
3. peritonitis (after 4 hours)—severe pain
Perforated peptic ulcer
Clinical features
See FIGURE 24.11 . Typical clinical features are:
sudden-onset severe epigastric pain
continuous pain but lessens for a few hours
epigastric pain at first, and then generalised to whole abdomen
pain may radiate to one or both shoulders (uncommon) or right lower quadrant
nausea and vomiting (delayed)
hiccough is a common late symptom
Perforated peptic ulcer
DxT sudden severe pain + anxious, still, ‘grey’, sweaty + deceptive
improvement →
Perforated peptic ulcer
Signs and tests (typical of peritonitis) Patient lies quietly (pain aggravated by movement and coughing) Pale, sweating or ashen at first Guarding, board-like rigidity Maximum signs at point of perforation No abdominal distension
Perforated peptic ulcer
Contraction of abdomen (forms a ‘shelf’ over lower chest)
Bowel sounds reduced (silent abdomen)
Shifting dullness may be present
Pulse, temperature and BP usually normal at first
Tachycardia (later) and shock later (3–4 hours)
Breathing is shallow and inhibited by pain
PR: pelvic tenderness
X-ray: chest X-ray may show free air under diaphragm (in 75%)—need to sit upright for prior
15 minutes
limited Gastrografin meal can confirm diagnosis
CT scan preferable, if available and safe
Perforated peptic ulcer
Management
Pain relief
Drip and suction (immediate nasogastric tube)
Broad-spectrum antibiotics
Immediate surgery after resuscitation
Conservative treatment may be possible (e.g. later presentation and Gastrografin swallow
indicates sealing of perforation)
Perforated peptic ulcer
Kidney (renal) colic is not a true colic but a constant pain due to blood clots or a stone lodged at
the pelvic–ureteric junction; ureteric colic, however, presents as severe true colicky pain due to
stone movement, dilatation and ureteric spasm. Fortunately, the majority of urinary calculi are
small and will pass spontaneously.
Ureteric colic
Guidelines:
loin pain—stone in kidney
kidney/ureteric colic—ureteric stone
Ureteric colic
strangury—stone in bladder Clinical features Maximum incidence 30–50 years (M > F) Intense colicky pain: in waves, each lasting 30 seconds with 1–2 minutes respite Begins in loin and radiates around the flank to the groin, thigh, testicle or labia (see FIG. 24.12 ) Usually lasts <8 hours ± Vomiting
Ureteric colic
DxT intense pain (loin) → groin + microscopic haematuria →
Ureteric colic
Signs Restlessness: may be writhing in pain Pale, cold and clammy Tenderness at costovertebral angle ± Abdominal and back muscle spasm Smoky urine due to haematuria
Ureteric colic
Diagnosis
Urine: microscopy; blood testing strip (negative does not exclude calculus)
Plain X-ray: most stones—kidney, ureter, bladder (75%)—are radio-opaque (calcium oxalate
and phosphate)
IVP: confirms opacity, level of obstruction, kidney function and any anatomical abnormalities
Ultrasound: may locate calculus but will exclude obstruction
Non-contrast spiral KUB-CT is the ‘gold standard’ (sensitivity 97%, specificity 96%) (will
show easily missed radiolucent11 uric acid stones)
Ureteric colic
Management
If the diagnosis is in doubt (especially if narcotic addiction is suspected) get the patient to pass
urine in the presence of an examiner and test for haematuria. While awaiting passage of urine, an
indomethacin suppository may be tried for pain relief.
Ureteric colic
Routine treatment (average size adult)
Morphine 2.5 to 5 mg IV15 statim then titrate to effect
or
fentanyl 50–100 mcg IV then titrate to effect.
Avoid high fluid intake, especially IV fluids—provokes distension of ureter and aggravates
pain.
Most cases settle and the patient can go home when pain relief is obtained and an IVP
arranged for the next day.
Further pain can be alleviated by indomethacin suppositories but should be limited to two a
day.
An effective alternative treatment is diclofenac 75 mg IM injection, then 50 mg (o) tds for 1
week. Several clinical trials have shown that NSAIDs by IM injection, including ketorolac
(10–30 mg IM [or IV] 4–6 hourly), are effective and at least as efficacious as opioids.15,16,17
Ureteric colic
The calculus is likely to pass spontaneously if <5 mm (90% <4 mm pass spontaneously).16
If >7 mm, intervention will usually be required by extracorporeal shock wave
lithotripsy or surgery.
If the person passes the calculus, he or she should retrieve it and present it for analysis.
A repeat IVP may be necessary if there is evidence of obstruction for more than 3 weeks.
Persistent obstruction causes sepsis.
The cause of the ‘stone’ should be considered. Search for causes such as hyperparathyroidism,
hypercalcaemia, hyperoxaluria and UTI.
Fever with ureteric colic indicates an obstructed infected kidney.
Ureteric colic
Any of the following: stone >7 mm in diameter high-grade or bilateral obstruction gross hydronephrosis fever/UTI unremitting pain stone fails to progress type 2 diabetes staghorn calculus presence of solitary kidney
When to refer16
Investigations Serum electrolytes, urea, creatinine Serum calcium, phosphate, uric acid, magnesium Serum alkaline phosphatase Urine sample—microbiology and culture At least two consecutive 24-hour urine samples Stone analysis IVP Dietary advice is given in
Recurrent urinary calculi
Abdominal pain can be produced by contraction of the biliary tree upon an obstructing stone or inspissated bile (sludge). Although the stereotyped higher-risk person is female, 40, fat, fair and fertile, it can occur from adolescence to old age and in both sexes.
Biliary pain
Typical clinical features are: acute onset severe pain postprandial or at night (often wakes 2–3 am) constant pain (not colicky) lasts 20 minutes to 2–6 hours
Biliary pain
maximal RUQ or epigastrium Page 271
may radiate to tip of right shoulder or scapula
painful episode builds to a crescendo for about 20 minutes; may recede or last for hours
some relief by assuming flexed posture
± nausea and vomiting with considerable retching
often a history of biliary pain (may be mild) or jaundice
often precipitated by a fatty meal
Biliary pain
DxT severe pain + vomiting + pain radiation →
Biliary pain
Signs
Patient anxious and restless, usually in a flexed position or rolling in agony
Localised tenderness (Murphy sign) over fundus of gall bladder (on transpyloric plane)
Slight rigidity
Diagnosis
Abdominal ultrasound (to diagnose gallstones)
Helical CT
Intravenous cholangiography if previous cholecystectomy
LFTs may show elevated bilirubin and alkaline phosphatase
Biliary pain
Management
Pain relief:18
morphine 2.5–5 mg IV statim then titrate to effect (age-dependent; use lower end of range if
≥70 years)
or
fentanyl 50–100 mcg IV statim then titrate to effect
or
Biliary pain
ketorolac 10–30 mg IM 4–6 hourly (max. 90 mg daily)
Gallstone dissolution with ursodeoxycholic acid or lithotripsy (in those unable to have
surgery)
Laparoscopic cholecystectomy (main procedure)
Biliary pain
form from bile in the gall bladder and sometimes in the bile duct (especially postcholecystectomy)
Two main types—cholesterol and pigment (bilirubin)
Lifetime risk in first world countries is 12–20%
70% of people with gall bladder stones are asymptomatic, but risk of developing symptoms is
about 15% over 20 years
Cholecystectomy almost never indicated for asymptomatic stones
Complications: acute cholecystitis (may lead to empyema, perforation, cholecystoenteric
fistula), obstructive jaundice, cholangitis (infection with pain) and acute pancreatitis
(pancreatic duct obstruction)
Gallstone facts
This condition, which causes biliary ‘colic’ due to spasm of the sphincter of Oddi, often follows
prolonged fasting. Cholecystectomy may be necessary
Microlithiasis (biliary ‘sludge’)
is associated with gallstones in over 90% of cases18 and there is usually a past
history of biliary pain. It occurs when a calculus becomes impacted in the cystic duct and
inflammation develops. It is very common in the elderly. The acute attack is often precipitated by
a large or fatty meal. The causative organisms are usually aerobic bowel flora (e.g. E. coli,
Klebsiella species and Enterococcus faecalis).
Acute cholecystitis
Clinical features
Steady severe pain and tenderness
Localised to right hypochondrium or epigastrium
May be referred to the right infrascapular area
Anorexia, nausea and vomiting (bile) in about 75%
Acute cholecystitis
Aggravated by deep inspiration Signs Patient tends to lie still Localised tenderness over gall bladder (positive Murphy sign) Muscle guarding Rebound tenderness Palpable gall bladder (approximately 15%) Jaundice (approximately 15%) ± Fever
Acute cholecystitis
Diagnosis Ultrasound: gallstones but not specific for cholecystitis HIDA scan: demonstrates obstructed cystic duct—the usual cause WCC and CRP: can be elevated Treatment Bed rest IV fluids Nil orally Analgesics Antibiotics Cholecystectomy If evidence of sepsis, use amoxi/ampicillin 1 g IV, 6 hourly plus gentamicin 4–6
Acute cholecystitis
With acute pancreatitis there may be a past history of previous attacks or a past history of alcoholism (35%) or gallstone disease (40–50%). It is commonly precipitated by fatty foods and
alcohol, mumps, hypertriglyceridaemia and some antidiabetic medications, e.g. gliptins.
Acute pancreatitis
Typical clinical features are: sudden onset of severe constant deep epigastric pain but onset can be steady lasts hours or a day or so pain may radiate to back pain may be relieved by sitting forwards
Acute pancreatitis
nausea and vomiting
sweating and weakness
Acute pancreatitis
DxT severe pain + nausea and vomiting + relative lack of abdominal
signs →
Acute pancreatitis
Signs
Patient is weak, pale, sweating and anxious
Tender in epigastrium
Lack of guarding, rigidity or rebound
Reduced bowel sounds (may be absent if ileus)
± Abdominal distension
Fever, tachycardia ± shock
Acute pancreatitis
Diagnosis
WCC—leucocytosis
Serum lipase (preferred as more sensitive and specific) or serum amylase
CRP—elevated
Serum glucose ↑, calcium ↓
Blood gases: PaO2 (?pulmonary complications)
LFTs: ?obstructive pattern
Plain X-ray, may be sentinel loop
CT scan, best after 48 hours (especially for complications)
Ultrasound better for detecting cysts and unsuspected gallstones
Acute pancreatitis
Management19
Arrange admission to hospital (but many cases are mild).
Basic treatment is bed rest, nil orally, nasogastric suction (if vomiting), IV fluids and
analgesics (morphine). Treat hyperglycaemia or hypocalcaemia.
Acute pancreatitis
Use morphine 2.5–5 mg IV or fentanyl 30–100 mcg IV statim then titrate to effect.
May require ERCP if obstructive LFTs.
Acute pancreatitis
This IgG4-related disorder presents with abdominal pain, jaundice and weight loss. Diagnosis is
by a pancreatic mass or enlargement on imaging and serology (IgG4). Treatment is with
corticosteroids.
Autoimmune pancreatitis
In comparison to acute pancreatitis, the pain of chronic pancreatitis is milder but more persistent.
There may be epigastric pain boring through to the back. Symptoms may relapse and worsen.
Investigate with CT scan and ultrasound and faecal elastase (N >200 μg/g stool: pancreastic
exocrine insufficiency < 200 μg/g stool). MRCP is the most sensitive imaging study. The person
with this problem is often labelled as ‘gastritis’, ‘ulcer’ or even ‘neurotic’ because of the
indeterminate nature of the pain. Malabsorption and diabetes may result from pancreatitis.
Weight loss and steatorrhoea become prominent features.
Chronic pancreatitis
Pain associated with pancreatic cancer is indistinguishable from that of chronic pancreatitis but
generally tends to be more severe and more prominent in the back. Use paracetamol for pain.
Give pancreatic enzyme supplements (e.g. pancrelipase) for malabsorption.
Chronic pancreatitis
The person with acute diverticulitis is usually over 40 years of age, with longstanding,
grumbling, left-sided abdominal pain and constipation, but can have an irregular bowel habit. It
occurs in less than 10% of those with diverticular disorder
Acute diverticulitis
Typical clinical features are:
acute onset of pain in the left iliac fossa
pain increased with walking and change of position
usually associated with constipation
Acute diverticulitis
DxT acute pain + left-sided radiation + fever →
Acute diverticulitis
Signs
Tenderness, guarding and rigidity in LIF
Fever
Acute diverticulitis
Investigations FBE: leucocytosis Elevated ESR Pus and blood in stools Abdominal ultrasound/CT scan (especially—can detect fistula, abscess or perforation) Erect chest X-ray Erect and supine abdominal X-ray
Acute diverticulitis
Complications Bleeding (can be profuse, especially in elderly) Perforation (high mortality) Abscess Peritonitis Fistula (bladder, vagina, small bowel) Intestinal obstruction
Acute diverticulitis
Treatment19
Hospital admission (unless mild)
Rest the GIT: nil orally, drip and suction
One landmark study showed that a ‘wait and see’ approach without antibiotics can be
considered appropriate in patients with an uncomplicated initial attack of diverticulitis20
Analgesics
Antibiotics:
mild cases: amoxicillin + clavulanate 875/125 mg (o) 12 hourly for 5 days
or
metronidazole + cephalexin
Acute diverticulitis
severe cases: amoxi/ampicillin 1 g IV 6 hourly \+ gentamicin 5–7 mg/kg IV/day \+ metronidazole 500 mg IV 12 hourly or metronidazole + ceftriaxone 1 g IV/day Surgery for complications Screening colonoscopy after acute episode
Acute diverticulitis
Can be generalised due to intra-abdominal sepsis following perforation of a viscus, e.g. peptic
ulcer, appendix, diverticulum. Typical signs are as for perforated peptic ulcer. Key investigations
are peritoneal fluid culture and CT scan. Surgical intervention is usually required. Usual
antibiotic treatment is IV cephalosporins or amoxi/ampicillin + gentamicin + metronidazole.21
Spontaneous bacterial peritonitis can occur in any patient with ascites.
Peritonitis
Older person Nocturnal pain or diarrhoea Progressive symptoms Rectal bleeding Fever Anaemia Weight loss Abdominal mass Faecal incontinence or urgency (recent onset)
Red flags for organic disease12
It is possible to have recurrent episodes of subacute inflammation of the appendix. If suspected,
laparoscopy performed during or soon after an attack is diagnostic.
Chronic appendicitis
There is no firm evidence that intra-abdominal adhesions are painful apart from complications
such as bowel obstruction. Sometimes patients are ‘cured’ by laparoscopic divisions of
adhesions.
Adhesions
Usually central epigastric pain
Burning pain
Relieved by antacids or food or milk
DU: usually 2–3 hours after meals or wakes from sleep
GU: may occur after meals but inconsistent relationship to eating
Peptic ulcer (gastric or duodenal
Special caution is required at the extremes of age when the symptoms and signs
do not often reflect the seriousness of the underlying pathology.
If an elderly person presents with intense acute abdominal pain, inadequately
relieved by strong parenteral injections, likely causes include mesenteric artery
occlusion, acute pancreatitis and ruptured or dissecting aortic aneurysm.
When an inflamed appendix ruptures, the abdominal pain improves for a
significant period of time.
Consider gallstones and duodenal ulcer if the person is woken (e.g. at 2–3 am)
with abdominal pain.
Pus cells and red cells may be present in the urine with appendicitis when a pelvic
appendix involves the bladder and a retrocaecal appendix involves the ureter.
Consider diabetic ketoacidosis in a person with abdominal pain, tenderness and
rigidity and deep sighing respiration.
Practice tips acute abdomen
The commonest cause was osteoarthritis (OA), which affects 5–10% of the
population.
Arthritis
Almost 2% of Australians report having rheumatoid arthritis (RA).
Arthritis
Systemic diseases that may predispose to, or present with, an arthropathy
include the connective tissue disorders, diabetes mellitus, a bleeding disorder,
previous tuberculosis, the spondyloarthropathies such as psoriasis, SBE,
hepatitis B, rheumatic fever, the various vasculitic or arteritic syndromes (the
vasculitides) such as Wegener granulomatosis, HIV infection, lung cancer,
haemochromatosis, sarcoidosis, hyperparathyroidism, Whipple disease and
Arthritis
The pain of inflammatory disease is worse at rest (e.g. on waking in the morning,
also with stiffness) and improved by activity
Arthritis
Early diagnosis and management of RA results in considerably better outcomes.
Causes of monoarthritis include crystal deposition disease, sepsis, osteoarthritis,
trauma and spondyloarthritis.
Arthritis
Gout and septic arthritis have a recognised cause and cure.
Acute gout is 4–6 times more prevalent in men than women; however, it
becomes more common in postmenopausal women, particularly those on
thiazide diuretics.
Arthritis
OA is very common in general practice. It may be primary, which is usually symmetrical, and
can affect many joints. This clinical pattern is different from secondary OA, which follows injury
and other wear-and-tear causes.
Arthritis
Acute onset Polyarthritis Symmetric inflammation Mainly hands and feet Rash—persists for 24 hours minimum Terminates rapidly—over days FBE: lymphopaenia, lymphocytosis, ± atypical lymphocytes
Clinical features (viral arthritis)
It tends to terminate quickly and spontaneously without permanent damage to joints. It is caused by many viruses, including those causing influenza, mumps, rubella, varicella, hepatitis B and C, infectious mononucleosis (more muscle aching), cytomegalovirus, parvovirus, Australian epidemic polyarthritis due to the alphaviruses, Ross River virus and Barmah Forest virus. Adenovirus is common in children. COVID-19 causes arthralgia in around 15% of cases
Clinical features (viral arthritis)
Fever Weight loss Profuse rash Lymphadenopathy Cardiac murmur Severe pain and disability Malaise and fatigue Vasculitic signs Two or more systems involved
Red flag pointers for polyarthritis
A common pitfall is ________, particularly in older women taking diuretics, whose osteoarthritic
joints, especially of the hand, can be affected. The condition is often referred to as nodular gout
and does not usually present as acute arthritis.
gout
Another ‘trap’ is ______________in a patient with a bleeding disorder.
haemarthrosis
__________________________ usually affects the hands and is generally symmetrical. The drugs may
induce autoantibodies (e.g. ANA, ANCA). Those that induce a lupus syndrome include the antiepileptics,
chlorpromazine and some cardiac drugs. Various antibiotics have been associated
with arthralgia, e.g. minocycline, while diuretics, especially frusemide and thiazides, can
precipitate gout. The problem usually resolves promptly after withdrawal of the agent
Drug-induced arthritis
Intravenous drug abuse may be associated with septic arthritis, hepatitis B and C, HIV-associated
arthropathy, SBE with arthritis and serum sickness reactions.
Drug-induced arthritis
A very hot, red, swollen joint suggests either infection or _______________arthritis.
crystal
also known as juvenile chronic arthritis and juvenile rheumatoid arthritis (US), is defined as
a chronic arthritis persisting for a minimum of 6 weeks (some criteria suggest 3 months) in one
or more joints in a child younger than 16 years.8 It is rare, affecting only about 1 in 1000
children, but produces profound medical and psychosocial problems.
Juvenile idiopathic arthritis
The commonest types of JIA are oligoarticular (pauciarticular) arthritis, affecting four or fewer
joints (about 50%), and polyarticular arthritis, affecting five or more joints (about 40%).
Systemic onset arthritis, previously known as Still syndrome, accounts for about 10% of cases.
Juvenile idiopathic arthritis
is usually seen in children under the age of 5 but can occur throughout childhood. The child can
present with a high remittent fever and coppery red rash, plus other features, including
lymphadenopathy, splenomegaly and pericarditis. Arthritis is not an initial feature but develops
ultimately, usually involving the small joints of the hands, wrists, knees, ankles and
metatarsophalangeal joints.
Juvenile idiopathic arthritis
These children should be referred once the problem is suspected or recognised. JIA is not a
benign disease—50% have persistent active disease as adults.
Juvenile idiopathic arthritis
is an inflammatory disorder that typically occurs in children and young adults following a
group A Streptococcus pyogenes infection. It is common in developing countries and among
Aboriginal and Torres Strait Islander people (see CHAPTER 127 ) but uncommon in first world
countries
Rheumatic fever
Age 5–15 years (can be older)
Acute-onset fever, joint pains, malaise
Flitting arthralgia mainly in leg (knees, ankles) and arm (elbows and wrists)
One joint settles as the other is affected
May follow a sore throat
However, the symptoms depend on the organs affected and arthritis may be absent
Rheumatic fever
Based on clinical criteria: 2 or more major criteria or 1 major + 2 or more minor criteria in the presence of supporting evidence of preceding Group A streptococcal (GAS) infection.
Rheumatic fever
Major criteria
Carditis
Polyarthritis
Chorea (involuntary abnormal movements)
Subcutaneous nodules—in crops on elbows, wrists, knees or ankles
Erythema marginatum—spread in a circular fashion
Rheumatic fever
Minor criteria Fever (≥38°C) Previous RF or rheumatic heart disease Monoarthralgia Raised ESR >30 mm/hr or CRP >30 mg/L ECG—prolonged PR interval
Rheumatic fever
Investigations A selective combination of: FBC throat swab for GAS ESR/CRP streptococcal ASOT streptococcal anti-DNase B (repeat in 10–14 days) plus ECG and echocardiogram (if ↑ PR) and CXR
Rheumatic fever
Treatment
Rest in bed (if carditis, for up to 2 weeks)
GAS sensitive antibiotics, e.g. benzathine penicillin 900 mg IM (450 mg in child <20 kg)
statim or phenoxymethylpenicillin 500 mg (o) bd 10 days
Paracetamol 15 mg/kg (o) 4 hourly (max. 60 mg/kg/day); aspirin or naproxen for arthritis
Diuretics for carditis (may be ACE inhibitor and corticosteroids)
Prophylactic long-term penicillin
Rheumatic fever
can affect any joint at any age, although it is more common in
children. It evolves over hours or days and can rapidly destroy a joint structure. It is an
emergency in the hip joint of children. Check for IV drug use. The commonest organisms are S.
aureus, Streptococci, Kingella kingae and N. gonorrhoea. Diagnosis is by blood culture and
synovial fluid analysis and culture. Treatment is with drainage and washout of the joint and IV
followed by oral antibiotics, e.g. di/flucloxacillin. Orthopaedic referral recommended
Septic arthritis
OA is very common with advancing age and for this reason care has to be taken not to simply
attribute other causes of arthritis to OA. Other musculoskeletal conditions that become more
prevalent with increasing age are:
Arthritis in the elderly
polymyalgia rheumatica Paget disease of bone avascular necrosis gout pseudogout (pyrophosphate arthropathy) malignancy (e.g. bronchial carcinoma)
Arthritis in the elderly
This crystal deposition arthropathy (chondrocalcinosis) is noted by its occurrence in people over
60 years. It usually affects the knee joint but can involve other joints
Pseudogout
Although it usually begins between the ages of 30 and 40 it can occur in older people, when it
occasionally begins suddenly and dramatically. This is called ‘explosive’ RA and fortunately
tends to respond to small doses of prednisolone and has a good prognosis.13 RA in the elderly
can present as a polymyalgia rheumatica syndrome.
Rheumatoid arthritis
is the most common type of arthritis, occurring in about 10% of the adult population and in
50% of those aged over 60.12 It is a degenerative disease of cartilage and may be primary
idiopathic or secondary to causes such as trauma and mechanical problems, septic arthritis,
crystallopathy or previous inflammatory disorders, or structural disorders such as SCFE and
Perthes disorder. OA of the hips and knees has a strong association with being overweight or
obese.
Osteoarthritis
Primary OA is usually symmetrical and can affect many joints. Unlike other inflammatory
disease the pain is worse on initiating movement and loading the joint, and eased by rest. OA is
usually associated with stiffness, especially after activity, in contrast to RA.
Osteoarthritis
In primary OA all the synovial joints may be involved, but the main ones are: first carpometacarpal (CMC) joint of thumb first metatarsophalangeal (MTP) joint of great toe distal interphalangeal (DIP) joints of hands Other joints that are affected significantly are the proximal interphalangeal joints, the knees, hips, acromioclavicular joints and joints of the spine, especially the facet joints of the cervical (C5–6, C6–7) and lumbar regions (L3–4, L4–5, L5–S1)
Osteoarthritis
Pain: worse by the end of the day, aggravated by use, relieved by rest, worse in cold and damp
Variable morning stiffness
Variable disability
Osteoarthritis
Hard and bony swelling
Crepitus
Signs of inflammation (mild), warmth, pain
Restricted movements; inability to weight bear
Joint deformity
Note: There should be no systemic manifestations
Osteoarthritis
Crystal arthropathy can complicate OA, especially in the fingers of people taking diuretics (e.g.
nodular gout).
Osteoarthritis
OA does not exhibit the typical inflammatory pattern. The clinical diagnosis is based on:
gradual onset of pain after activity (worse towards the end of the day)
the pattern of joint involvement
the lack of soft tissue swelling
the transient nature of the joint stiffness or gelling
takes <30 minutes to settle after rest while inflammatory arthritis takes at least 30 minutes
Osteoarthritis
X-ray findings
Joint space narrowing with sclerosis of subchondral bone
Formation of osteophytes on the joint margins or in ligamentous attachments
Cystic areas in the subchondral bone
Altered shape of bone ends
Osteoarthritis
Provide explanation and reassurance, including patient education hand-outs
Correct modifiable risk factors: obesity, injury, overuse
Control pain and maintain function with appropriate drugs
Suggest judicious activity, exercise and physical therapy: regular exercise has strong evidence
of benefit for hip and knee OA; discourage exercise avoidance14
For weight-bearing joints, there is evidence for weight loss of at least 5–7.5% for those with
BMI >25 kg/m2
Consider factors lowering the coping threshold (e.g. stress, depression, anxiety, overactivity)
Osteoarthritis
Referral for surgery should be used judiciously, as surgeons differ in their enthusiasm for
following the best independent evidence for surgical interventions. For example, the Australian
Knee Society’s arthroscopy ‘position statement’15 recommends against arthroscopy for knee OA
except in a small number of circumstances (particularly knee locking), which goes against the
vast majority of those having had debridement or meniscectomies in the age of arthroscopies.
Refer for consideration of joint replacement and for advice on joints causing intractable pain or
disability. Hand surgery can offer good pain relief and functional improvement. Osteotomies
have a limited place for a varus or valgus deformity of the knee.
Osteoarthritis
Explanation. Provide patient education and reassurance that arthritis is not the crippling
disease perceived by most patients.
Exercise. A graduated exercise program is essential to maintain joint function. Aim for a good
balance of relative rest with sensible exercise. It is necessary to stop or modify any exercise or
activity that increases the pain. Systematic reviews have found that both exercise and
education may help reduce the pain and disability in people with OA of the hip or knee.16
Diet. If overweight it is important to reduce weight to ideal level. Obesity increases the risk of
OA of the knee approximately fourfold and weight loss may slow progression;17 otherwise, no
specific diet has been proven to cause or improve OA.
Osteoarthritis
Rest. Prolonged bed rest is contraindicated, and exercise is important. However, rest during an
active bout of inflammatory activity is reasonable as a pain reduction strategy.
Heat. Recommended is a hot-water bottle or other heat pack, warm bath or electric blanket to
soothe pain and stiffness. Advise against getting too cold. Do not advise using local cold
packs, as they have been shown not to help.
Physiotherapy. Referral should be made for specific purposes such as:
correct posture and/or leg length disparity (but beware of the increasing unscientific use of
this term)
supervision of a hydrotherapy program
heat therapy and advice on simple home heat measures
teaching and supervision of isometric strengthening
exercises (e.g. for the neck, back, quadriceps muscle)
therapeutic ultrasound, kinesio taping and electrical or laser stimulation have not been
demonstrated to work; discourage such practices.
Occupational therapy. Refer for advice on aids in the home, more efficient performance of
daily living activities, protection of joints and on the wide range of inexpensive equipment and
Osteoarthritis
Braces, orthotics, walking aids. A walking stick or wheelie walker may help. However,
realignment braces for medial compartment or patellofemoral OA have not been shown to be
helpful, nor have lateral wedge shoe insoles or knee taping. Advise sensible, supportive
footwear.
Osteoarthritis
Paracetamol. Use paracetamol (acetaminophen) regularly, or before activity. Avoid
combinations containing codeine or dextropropoxyphene. The newer 665 mg products
marketed specifically for OA have no great advantage over the traditional 500 mg tablets; use
either.
Osteoarthritis
NSAIDs and COX-2 specific inhibitors (CSIs). These are second-line drugs for more persistent
pain not relieved by paracetamol or where there is evidence of inflammation, such as pain
worse with resting and nocturnal pain. Systematic reviews found that oral NSAIDs probably
reduce the pain of OA but there is no good evidence that NSAIDs are superior to paracetamol
or that any one of the many NSAIDs is more effective than others.16 The risk versus benefit
equation always has to be weighed carefully. As a rule, use the lowest effective dose for a
short period, then discontinue use if not effective. Evidence shows CSIs (celecoxib,
etoricoxib) have a similar efficacy to other NSAIDs and a modest absolute reduction in GIT
complications.18 Significant risks of NSAIDs are:
gastric ulceration, erosion with bleeding
depression of kidney function (check kidney function beforehand)
hepatotoxicity
Topical NSAIDs and capsaicin have been shown to have a small benefit in pain relief over
topical placebo preparations.12
Note: Change to a suppository form will not necessarily render the upper GIT safe from
irritation.
Osteoarthritis
Intra-articular (IA) corticosteroids. Corticosteroid injections have a modest place for offering
short-term pain relief, as an adjunct to other measures. They can be particularly useful during
an inflammatory episode of distressing pain and disability (e.g. a flare-up in an osteoarthritic
knee), or where a joint replacement is either under consideration or contraindicated due to
comorbidities or age.
Osteoarthritis
Surgery. Refer for surgical intervention if debilitating and intractable pain or disability, and
when considering joint replacement. However, keep up to date with evidence from blinded
‘surgery vs sham-surgery trials’ and systematic reviews that suggest that the historic
enthusiasm for knee and shoulder arthroscopies is no longer justifiable except in limited
circumstances
Osteoarthritis
Glucosamine, chondroitin, vitamin D, omega-3 fatty acids. Evidence originally supporting oral
glucosamine was from small trials prone to bias, including publication bias. Systematic
Osteoarthritis
Bisphosphonates. These are used to prevent osteoporotic fractures, where appropriate, but do
not advise they will have any impact on OA symptoms.
Contraindicated drugs. For OA these include the immunosuppressive and disease-modifying
drugs such as oral corticosteroids, gold, antimalarials and cytotoxic agents. Avoid long-term
opioids, which won’t help but will harm.
Osteoarthritis
which is an autoimmune symmetrical polyarticular systemic disease of unknown aetiology,
is the commonest chronic inflammatory polyarthritis and affects about 1–2% of the population.
The disorder can vary from a mild to a most severe debilitating expression. About 10–20% of
patients have a relentless progression and require aggressive drug therapy.21 Urgent referral to a
specialist is recommended.
Genetic factors may represent a risk of 15–70% of developing RA.
Rheumatoid arthritis
generally presents with the insidious onset of pain and stiffness of the small joints of the
hands and feet. The pain is persistent rather than fleeting and mainly affects the fingers where
symmetrical involvement of the PIP joints produces spindling while the metacarpophalangeal
joints develop diffuse thickening, as does the wrist (see FIG. 25.8 ). In 25% of cases RA
presents as arthritis of a single joint such as the knee,13 a situation leading to confusion with a
spondyloarthropathy. Differential diagnosis is polyarticular gout.
Rheumatoid arthritis
Hands: MCP and PIP joints, DIP joints (30%) Wrist and elbows Feet: MTP joints, tarsal joints (not IP joints), ankle Knees (common) and hip (delayed—up to 50%) Shoulder (glenohumeral) joints Temporomandibular joints Cervical spine (not lumbar spine)
Rheumatoid arthritis
Clinical features
Insidious onset but can begin acutely (explosive RA)
Any age 10–75 years: peak 30–50 years but bimodal 25–50 (peak age) and 65–75
Female to male ratio = 3:1
Joint pain: worse on waking, nocturnal pain, disturbed sleep; relieved with activity
Rheumatoid arthritis
Morning stiffness—can last hours
Rest stiffness (e.g. after sitting)
General: malaise, weakness, weight loss, fatigue
Disability according to involvement
Rheumatoid arthritis
Soft swelling (effusion and synovial swelling), especially of wrist, MCP and PIP joints,
nodules
Warmth
Tenderness on pressure or movement
Limitation of movement
Muscle wasting
Later stages: deformity, subluxation, instability or ankylosing
Look for swan necking, boutonnière and z deformities, ulnar deviation
Rheumatoid arthritis
Check for a number of everyday functions, for example: power grip (lifting a jug of water) precision grip (using a key or pen), undoing buttons hook grip (carrying a bag)
Rheumatoid arthritis
Investigations
ESR/CRP usually raised according to activity of disease
Anaemia (normochromic and normocytic) may be present
Rheumatoid factor
positive in about 70–80% (less frequent in early disease)
15–25% of RA patients will remain negative21
Rheumatoid arthritis
Anti-cyclic citrullinated peptide (anti-CCP) antibodies: more specific for RA (94% specificity)12 X-ray changes: erosion of joint margin loss of joint space (may be destruction) juxta-articular osteoporosis cysts advanced: subluxation or ankylosing MRI—helpful for early diagnosis
Rheumatoid arthritis
Family history of inflammatory arthritis
Symptom duration of >6 weeks
Early-morning stiffness of >1 hour
Arthritis in three or more regions
Swelling in five or more joints
Bilateral compression tenderness of the metatarsophalangeal joints
Symmetry of the areas affected
Presence of rheumatoid nodules
Rheumatoid factor positivity
Raised inflammatory markers (ESR/CRP) in absence of infection
Anticyclic citrullinated peptide antibody positivity
Bony erosions evident on radiographs of the hands or feet, although these are
uncommon in early disease
Rheumatoid arthritis
If the RA factor is positive, it is non-specific—order the anti-CCP antibody to
confirm the diagnosis.
RA has a strong cardiovascular risk factor.
Rheumatoid arthritis
Give patient education support and appropriate reassurance. The diagnosis generally has
distressful implications, and so the patient and family require careful explanation and support.
Some have little or no long-term problems but even in mild cases, continuing care and medical
supervision is important.
There has been a radical shift from palliation to early induction of disease remission, to
prevent joint damage and reduce morbidity from malignancy (especially lymphoma) and
cardiovascular disease.
Since many studies show disease progression in the first 2 years, relative aggressive treatment
with disease-modifying antirheumatic drugs (DMARDs) from the outset is advisable, rather
than to start stepwise with analgesics and NSAIDs only.23
Use a team approach where appropriate, including an early specialist referral for obvious or
suspected RA or positive anti-CCP for diagnosis and collaborative support.
Fully assess the person’s functional impairment and impact on home life, work and social
activity. Involve the family in decision making.
Make judicious use of pharmaceutical agents. For serious cases, consultant collaboration is
essential.
Review regularly, continually assessing progress and drug tolerance. The disease activity can
be monitored with plain X-rays, ultrasound of hands (especially if hands are thick), CRP ±
ESR.
Rheumatoid arthritis
Rest and splinting. This is necessary where practical for any acute flare-up of arthritis.
Rheumatoid arthritis
Exercise. It is important to have regular exercise, especially walking and swimming. Have
hydrotherapy in heated pools.
Rheumatoid arthritis
Smoking cessation. This is strongly recommended.
Referral. Referring to physiotherapists and occupational therapists for expertise in exercise
supervision, physical therapy and advice regarding coping in the home and work is important.
Rheumatoid arthritis
Joint movement. Each affected joint should be put daily through a full range of motion to keep
it mobile and reduce stiffness.
Diet. Although there is no special diet that seems to cause or cure RA, a nourishing, wellbalanced
diet is common sense and obesity must be avoided. Some evidence supports both a
Rheumatoid arthritis
Education (rest, literature, weight loss, joint protection advice) NSAIDs Simple analgesics DMARDs: Conventional synthetic DMARDs Immunosuppressants: azathioprine cyclosporin leflunomide methotrexate Biological DMARDs Cytokine inhibitors anti-TNF α agents: abatacept, adalimumab, certolizumab, etanercept, infliximab, golimumab, rituximab anti-interleukin-1 agents; tocilizumab
Rheumatoid arthritis
Gold salts Quinolones: hydroxychloroquine chloroquine Others: D-penicillamine sulfasalazine Glucocorticoids: oral prednisolone intra-articular intravenous (steroid ‘pulses’) Fish body oil Physical therapy (hydrotherapy, isometric exercises) Occupational therapy (splints, aids and appliances) Orthopaedic surgery (synovectomy, joint replacement, arthrodesis, plastic hand surgery)
Rheumatoid arthritis
Rheumatoid arthritis
Beware of the increased risk of infection in patients on combination DMARD regimes.
When indicated, vaccination for pneumococcus, influenza, hepatitis A and B and HPV is
recommended for all DMARDs.
Any pain should be managed with paracetamol or NSAIDs. Avoid opioid analgesics if
possible.
Glucocorticoids are appropriate for flares of RA.
Rheumatoid arthritis
NSAIDs are effective and still have a place, but the adverse effects are a problem.
The use of DMARDs and biological DMARDs improves long-term outcomes.
Methotrexate is the ‘backbone’ of treatment, and should be continued when starting other
DMARDs.
Supplementation with folic acid can improve gastrointestinal symptoms and reduce the risk of
liver dysfunction.
Rheumatoid arthritis
Oral use should be considered in those with severe disease as a temporary adjunct to DMARD
therapy and where other treatments have failed or are contraindicated.
The dose is prednisolone 10 mg (o) daily. Avoid doses higher than 15 mg daily if possible.
Intra-articular injections of depot preparations are effective in larger joints.
Rheumatoid arthritis
These agents target synovial inflammation and prevent joint damage. The choice depends on
several factors, but is best left to the specialist coordinating care. In most patients with recently
diagnosed RA, methotrexate is the cornerstone of management and should be commenced as
early as possible.
Initial dose: methotrexate 5–10 mg (o) once weekly on a specified day, increasing to maximum
of 25 mg weekly or SC depending on clinical response and toxicity. Add folic acid 5–10 mg
twice weekly (not on the day methotrexate is given).12
Biological DMARDs (bDMARDs) are the newer agents, which should be considered if
remission is not achieved with appropriate methotrexate monotherapy, ‘triple therapy’ or other
combinations. All bDMARDs are more effective when combined with methotrexate. As a rule,
don’t use two biologicals together
Rheumatoid arthritis
Monotherapy with methotrexate (or occasionally another DMARD) is standard. Less than 20%
will reach disease remission; if not achieved, increase the dose or consider combination therapy.
Many people are managed on conventional DMARDs.
Combination therapy
Consider standard triple therapy: methotrexate + sulfasalazine + hydroxychloroquine.
Triple therapy can be used if methotrexate monotherapy has failed or initially on diagnosis,
depending on the severity of the disease. Monitoring for FBE, LFTs and annual eye checks is
necessary.
Several other double combinations may be used (e.g. methotrexate with cyclosporin, leflunomide
or a bDMARD).
Rheumatoid arthritis
Arthritis, which can be acute, chronic or asymptomatic, is caused by a variety of crystal deposits in joints. The three main types of crystal arthritis are monosodium urate (gout), calcium pyrophosphate dihydrate (CPPD) and calcium phosphate (usually hydroxyapatite).
Crystal arthritis
is an abnormality of uric acid metabolism resulting in hyperuricaemia and urate crystal
deposition.
Gout (monosodium urate crystal disorder)
Urate crystals deposit in: joints—acute gouty arthritis soft tissue—tophi and tenosynovitis urinary tract—urate stones Four typical stages of gout are recognised: Stage 1—asymptomatic hyperuricaemia Stage 2—acute gouty arthritis Stage 3—intercritical gout (intervals between attacks) Stage 4—chronic tophaceous gout
Gout (monosodium urate crystal disorder)
Clinical features
Typical clinical features of gout include:12
mainly a disorder of men (5–8% prevalence)
onset earlier in men (40–50) than women (60+)
acute attack: excruciating pain in great toe (see FIG. 25.12 ), early hours of morning
skin over joint—red, shiny, swollen and hot
exquisitely tender to touch
Gout (monosodium urate crystal disorder)
relief with colchicine, NSAIDs, corticosteroids
can subside spontaneously (3–10 days) without treatment
Gout (monosodium urate crystal disorder)
Causes/precipitating factors Foods: seafood, meat, liver, kidney Alcohol excess (e.g. binge drinking) Surgical operation Starvation, dehydration, acute illness Drugs (FACT: frusemide, aspirin, alcohol, cytotoxic drugs, thiazide diuretics) Chronic kidney disease Myeloproliferative disorders Lymphoproliferative disorders (e.g. leukaemia) Sugary soft drinks,28 fruit juices containing fructose Cytotoxic agents (tumour lysis) Hypothyroidism
Gout (monosodium urate crystal disorder)
The arthritis
Monoarthritis in 90% of attacks:
MTP joint great toe—75%
other joints—usually lower limbs: other toes, mid foot, ankles, knees
Polyarticular onset is more common in old men and may occur in DIP and PIP joints of fingers.
No synovial joint is immune.
Gout (monosodium urate crystal disorder)
Tophi in ears, elbows (olecranon bursa), big toes, fingers, Achilles tendon (can take many
years)
Can cause patellar bursitis
Can get cellulitis (does not respond to antibiotics)
Gout (monosodium urate crystal disorder)
Nodular gout
More common in postmenopausal women with kidney impairment taking diuretic therapy.
Causes pain and tophaceous deposits around osteoarthritic interphalangeal (especially DIP) joints
of fingers.
Gout (monosodium urate crystal disorder)
Diagnosis
Synovial fluid aspirate of affected joint, bursa or tophus → typical uric acid crystals using
compensated polarised microscopy; this should be tried first (if possible) as it is the only real
diagnostic feature
Elevated serum uric acid (up to 30% can be within normal limits with a true acute attack)27
X-ray: punched out erosions at joint margins
Gout (monosodium urate crystal disorder)
Management
Management of gout includes these principles:
good advice and patient education information
provision of rapid pain relief
preventing further attacks
prevention of destructive arthritis and tophi
dealing with precipitating factors and comorbid conditions (e.g. alcohol dependence, obesity,
CKD, polycythaemia vera, diabetes, hypertension)
Gout (monosodium urate crystal disorder)
NSAIDs (except aspirin), in full dosage, are first-line and effective.
Give orally until symptoms abate (up to 4–5 days) then continue for one week
or
Corticosteroids:
Gout (monosodium urate crystal disorder)
prednisolone 15–30 mg (o) daily until symptoms abate,30,31 then decrease gradually
or
local corticosteroid injection (but very painful) up to a maximum of two affected sites31
or
intramuscular (in difficult cases) e.g. tetracosactrin 1 mg
or
Colchicine:
colchicine 1 mg (o) statim, then 0.5 mg 1 hour later as a single dose 1-day course (total
dose is 1.5 mg)
Gout (monosodium urate crystal disorder)
Must be given early
Avoid if kidney impairment
Avoid use with macrolide antibiotics, e.g. clarithromycin, especially in CKD
Avoid long-term use
Note:
Avoid changes to urate-lowering therapy during an acute attack of gout
Avoid aspirin and urate pool lowering drugs (probenecid, allopurinol, sulfinpyrazone)30
Monitor kidney function and electrolytes
Gout (monosodium urate crystal disorder)
When acute attack subsides, preventive measures with the aim of treating through diet include:
weight reduction
a healthy, well-balanced diet
avoidance of purine-rich food, such as organ meats (liver, brain, kidneys, sweetbread), tinned
fish (sardines, anchovies, herrings), shellfish and game
reducing red and processed meats, fried chips and sweet treats
reduced intake of alcohol
Gout (monosodium urate crystal disorder)
reduced intake of sugary soft drinks (fructose)32
good fluid intake (e.g. water—2 litres a day)
avoidance of drugs such as diuretics (thiazides, frusemide) and salicylates/low-dose aspirin
wearing comfortable shoes
avoidance of prolonged fasting
Prevention (drug prophylaxis) Allopurinol (a xanthine oxidase inhibitor) is the first-line drug of choice: dose 100–300 mg daily. Indications: frequent acute attacks (or even >1 attack in 12 months) tophi or chronic gouty arthritis kidney stones or uric acid nephropathy hyperuricaemia Adverse effects: rash (2%) severe allergic reaction (rare)
Gout (monosodium urate crystal disorder)
Precautions:
beware of kidney insufficiency and elderly patients—use lower doses
beware of drug interactions:
azathioprine and 6 mercaptopurine—potentially lethal
amoxicillin—prone to rashes
avoid initiating or changing allopurinol during an acute attack
Method: treatment of intercritical and chronic gout
Commence allopurinol 6–8 weeks after last acute attack.
Start with 50 mg daily for 4 weeks and then increase by 50 mg every 2 to 4 weeks to
maximum 900 mg daily.
Gout (monosodium urate crystal disorder)
Check uric acid level after 4 weeks: aim for level <0.38 mmol/L.
Temporarily add colchicine 0.5 mg bd or indomethacin 25 mg bd or other NSAIDs
(to avoid precipitation of gout).
Second-line agents
Febuxostat (an alternative xanthine oxidase inhibitor): dose is 40 mg (o) daily initially for
2–4 weeks, increasing the daily dose by 40 mg every 2–4 weeks, to maximum dose 120 mg.
Probenecid (uricosuric agent)—a second-line agent. Good for hyperexcretion of uric acid by
blocking renal tubular reabsorption. Dose: 500 mg/day (up to 2 g).
Note: Aspirin antagonises effect.
Gout (monosodium urate crystal disorder)
Prophylaxis of a flare of gout12 colchicine 0.5 mg (o) daily or bd or prednisolone 5mg (o) daily or an NSAID, e.g. diclofenac 25–50 mg (o) up to 200 mg/day
Gout (monosodium urate crystal disorder)
The finding of calcification of articular cartilage on X-ray examination is usually termed
chondrocalcinosis. This is mainly a disorder of the elderly superimposed on an osteoarthritic
joint. The acute attack is similar to an acute attack of gout but it affects the following joints (in
order):
knee
2nd and 3rd MCP joints
wrist
shoulder
ankle
elbow
It can affect tendons, especially the Achilles tendon, and cause a fever resembling septic arthritis
Calcium pyrophosphate crystal disorder (pseudogout)
The crystals in synovial fluid are readily identified by phase-contrast microscopy. X-rays are
helpful in showing calcification of the articular cartilage.
Management is based on aspiration and installation of a depot glucocorticosteroid by injection
into the joint (if joint infection excluded) plus analgesia. Be cautious of using NSAIDs in the
elderly—paracetamol is preferred. Colchicine can be used.
Treatment includes:12
indomethacin 50 mg (o) tds (if tolerated) until symptoms abate
and/or
colchicine 0.5 mg (o) tds until attack subsides
and
paracetamol 500–1000 mg (o) four times daily, if necessary
Calcium pyrophosphate crystal disorder (pseudogout)
This usually presents with an insidious onset of inflammatory back and buttock pain (sacroiliac
joints and spine) and stiffness in young adults (age <40 years), and 20% present with peripheral
joint involvement before the onset of back pain. It usually affects the girdle joints (hips and
shoulders), knees or ankles. At some stage, over 35% have joints other than the spine affected.
The symptoms are responsive to NSAIDs
Ankylosing spondylitis
Key clinical criteria12
Low back pain persisting for >3 months
Associated morning stiffness >30 minutes
Awoken with pain during second half of night
Improvement with exercise and not relieved by rest
Limitation of lumbar spine motion in sagittal and frontal planes
Chest expansion ↓ relative to normal values
Unilateral sacroiliitis (grade 3 to 4)
Bilateral sacroiliitis (grade 2 to 4)
Ankylosing spondylitis
is a form of arthropathy in which non-septic arthritis and often sacroiliitis
develop after an acute urogenital infection (usually Chlamydia trachomatis) or an enteric
infection (e.g. Salmonella, Shigella).
Reactive arthritis
DxT urethritis + conjunctivitis ± iritis + arthritis →
Reactive arthritis
The arthritis (Reiter syndrome), which commences 1–3 weeks post infection, tends to affect the
larger peripheral joints, especially the ankle (talocrural) and knees, but the fingers and toes can
be affected in a patchy polyarthritic fashion. Mucocutaneous lesions, including keratoderma
blennorrhagica and circinate balanitis, may occur, although the majority develop peripheral
arthritis only
Reactive arthritis
Like reactive arthritis, this can develop a condition indistinguishable from ankylosing
spondylitis. It is therefore important to look beyond the skin condition of psoriasis, for about 5%
will develop psoriatic arthropathy. It can have several manifestations:
1. mainly DIP joints
2. identical RA pattern but RA factor negative
3. identical ankylosing spondylosis pattern with sacroiliitis and spondylitis
4. monoarthritis, especially knees
5. severe deformity or ‘mutilans’ arthritis
Psoriatic arthritis
X-rays:
radiological sacroiliitis is central to the diagnosis
changes include narrowing of SIJs, margin irregularity, sclerosis of peri-articular bone and
eventually bony fusion. Spondylitis usually follows
ESR and CRP: most patients have an elevated ESR and CRP at some stage of their disease
HLA-B27: this test has low specificity and has limited value except that it predicts risk to
offspring if positive
Microbiology: in patients with a history of reactive arthritis, cultures should be obtained fr
Investigations for spondyloarthritides
Consider referral for occupational therapy.
Pharmacological agents:12
NSAIDs (e.g. indomethacin 75–200 mg (o) daily or 100 mg rectally nocte daily or
ketoprofen 100 mg rectally nocte to control pain, stiffness and synovitis)
sulfasalazine (if NSAIDs ineffective)
intra-articular corticosteroids for severe monoarthritis and intralesional corticosteroids for
enthesopathy
Refer for advice on above and especially for DMARD and bDMARD therapy
Investigations for spondyloarthritides
Morning stiffness and pain, improving with exercise =
RA.
Polyarthritis (usually PIPs) and rash =
viral arthritis or drug reaction
pain lumps discharge bleeding pruritus
Anorectal problems include:
The complaint may be that defecation is painful or almost impossible because of anorectal pain
Anorectal pain (Proctalgia)
Causes Pain without swelling: anal fissure anal herpes ulcerative proctitis proctalgia fugax solitary rectal ulcer
Anorectal pain (Proctalgia)
tenesmus Painful swelling: perianal haematoma strangulated internal haemorrhoids abscess: perianal, ischiorectal pilonidal sinus fistula-in-ano (intermittent) anal carcinoma
Anorectal pain (Proctalgia)
cause pain on defecation and usually develop after a period of constipation (may be
a brief period) and tenesmus. Other associations are childbirth and opioid analgesics.1
Sometimes the pain can be excruciating, persisting for hours and radiating down the back of both
legs. Anal fissures, especially if chronic, can cause minor anorectal bleeding (bright blood) noted
as spotting on the toilet paper.
Anal fissure
On inspection the anal fissure is usually seen in the anal margin—90% are situated in the midline
posteriorly (6 o’clock). The fissure appears as an elliptical ulcer involving the lower third of the
anus from the dentate line to the anal verge
Anal fissure
Digital examination and sigmoidoscopy are difficult because of painful anal sphincter spasm. If
there are multiple fissures, Crohn disease should be suspected. Crohn fissures look different,
being indurated, oedematous and bluish in colour.
Anal fissure
In chronic anal fissures a sentinel pile is common and in longstanding cases, a subcutaneous
fistula is seen at the anal margin, with fibrosis and anal stenosis.
Anal fissure
The aim is to disrupt the cycle of anal sphincter spasm, allowing improved blood flow to assist
healing. Management is conservative: patients should avoid hard stools, and use warm salt (sitz)
baths after bowel movements to relax the internal anal sphincter. A high-residue diet and
avoidance of constipation (aim for soft bulky stools) may lead to resolution and long-term
prevention. A combined local anaesthetic and corticosteroid ointment applied to the fissure,
particularly before passing a stool, can provide relief but may not promote healing. A
conservative treatment is the application of diluted glyceryl trinitrate ointment (e.g. Rectogesic
2% three times daily for 6 weeks to the lower anal canal) with a gloved finger gently inserted
into the anal canal. It achieves healing rates of 50–70%, significantly more than placebo
ointment.2,3 Transient headache is the main adverse effect. An alternative is 2% diltiazem cream
applied twice daily for 6–8 weeks. An acute anal fissure will usually heal spontaneously or
within a few weeks of treatment involving a high-fibre diet, sitz baths or laxatives
Anal fissure
Lateral internal sphincterotomy is indicated in patients with a recurrent fissure and a chronic
fissure with a degree of fibrosis and anal stenosis.5 This surgical procedure is the gold-standard
surgical procedure. An alternative ‘chemical’ sphincterotomy, which is as effective as surgical
treatment, is injection of botulinum toxin into the sphincter
Anal fissure
Clinical features
Episodic fleeting rectal pain
Varies from mild discomfort to severe spasm
Last 3–30 minutes
Often wakes the person from sound sleep
Can occur any time of day
A functional bowel disorder of unknown aetiology
Affects adults, being more common in women
Proctalgia fugax (levator ani spasm)
Explanation and reassurance re self-healing
An immediate drink (preferably hot) and local warmth with firm flannel pressure to the
perineum
Salbutamol inhaler (2 puffs statim) worth a trial but anecdotal evidence only
Alternatives include glyceryl trinitrate spray for the symptoms or possibly antispasmodics,
calcium-channel blockers and clonidine.
Proctalgia fugax (levator ani spasm)
_______________ is an unpleasant sensation of incomplete evacuation of the rectum. It causes attempts
to defecate at frequent intervals. The most common cause is irritable bowel syndrome. Another
common cause is an abnormal mass in the rectum or anal canal, such as cancer (e.g. prostate,
anorectal), haemorrhoids or a hard faecal mass. In some cases, despite intensive investigation, no
cause is found and it appears to be a functional problem.
Tenesmus
(thrombosed external haemorrhoid) is a purple tender swelling at the anal
margin caused by rupture of an external haemorrhoidal vein following straining at toilet or some
other effort involving a Valsalva manoeuvre. The degree of pain varies from a minor discomfort
to severe pain. It has been described as the ‘five-day, painful, self-curing pile’, which may lead
to a skin tag. Spontaneous rupture with relief of symptoms can occur.
Perianal haematoma
Surgical intervention is recommended, especially early in the presence of severe discomfort. The
treatment depends on the time of presentation after the appearance of the haematoma.
1. Within 24 hours of onset. Perform simple aspiration without local anaesthetic using a 19 gauge
needle while the haematoma is still fluid.
2. From 1 to 3 days of onset. The blood has clotted and a simple incision under local anaesthetic
over the haematoma with deroofing with scissors (like taking the top off a boiled egg) to
remove the thrombosis by squeezing is recommended. Removal of the haematoma reduces the
chances of recurrence and the development of a skin tag, which can be a source of anal
Perianal haematoma
A marked oedematous circumferential swelling will appear if all the haemorrhoids are involved.
If only one haemorrhoid is strangulated, proctoscopy will help to distinguish it from a perianal
haematoma. Initial treatment is with rest and ice packs and then haemorrhoidectomy at the
earliest possible time. It is best to refer for urgent surgery.
Strangulated haemorrhoids
This occurs mainly in preschool and school-aged children. It is usually caused by Streptococcus
pyogenes. Symptoms are perianal redness and pain on defecation. Check for a fissure. After
swabbing, treat with oral cephalexin for 10 days.
Perianal cellulitis6
This is caused by infection by polymicrobial organisms in one of the anal glands that drain the
anal canal.
Perianal anorectal abscess
Clinical features
Severe, constant, throbbing pain
Fever and toxicity
Hot, red, tender swelling adjacent to anal margin
Non-fluctuant swelling
Careful examination is essential to make the diagnosis. Look for evidence of a fistula, Crohn
disease and anorectal cancer.
Perianal anorectal abscess
Drain via a cruciate incision, which may need to be deep (with trimming of the corners) over the
point of maximal induration. A drain tube can be inserted for 7–10 days. Packing is not necessary.
Perianal anorectal abscess
Antibiotics
If a perianal or perirectal abscess is recalcitrant or spreading with cellulitis, use:
metronidazole 400 mg (o) 12 hourly for 5–7 days plus
cephalexin 500 mg (o) 6 hourly for 5–7 days7
Perianal anorectal abscess
An ischiorectal abscess presents as a larger, more diffuse, tender, dusky red swelling in the
buttock. The presence of an abscess is usually very obvious but the precise focus is not always
obvious on inspection. Antibiotics are of little help and surgical incision and drainage under deep
anaesthesia is necessary as soon as possible.
Ischiorectal abscess
Recurrent abscesses and discharge in the sacral region (at the upper end of the natal cleft about
6 cm from the anus) can be caused by a midline pilonidal sinus, which often presents as a painful
abscess. Once the infection has settled it is important to excise the pits, allow free drainage of the
midline cavity and lateral tracks and remove all ingrown hair. Antibiotics, which should be
guided by culture (e.g. cephalexin and metronidazole), are given to complement surgical
drainage only if there is severe surrounding cellulitis.6 Pilonidal means ‘a nest of hairs’ and the
problem is particularly common in hirsute young men (see FIG. 26.3 ). Refer for excision of the
sinus network if necessary, possibly marsupialisation.
Pilonidal sinus and abscess
is a tract that communicates between the perianal skin (visible opening) and the
anal canal, usually at the level of the dentate line. It usually arises from chronic perianal
infection, especially following discharge of an abscess. It is common in Crohn disease.
Symptoms include: recurrent abscesses; discharge of blood, pus or serous fluid; swelling and
anal pain. A surgical opinion is necessary to determine the appropriate surgical procedures,
which may be complex if it traverses sphincter musculature. One method is the Seton
management, whereby thin silicone, silk or latex slings are inserted under general anaesthetic.
This allows drainage and then guides surgical removal of the tracts
An anal fistula
are relatively common and patients are often concerned because of the fear of
cancer. A lump arising from the anal canal or rectum, such as an internal haemorrhoid, tends to
appear intermittently upon defecation, and reduce afterwards.1 Common prolapsing lesions
include second- and third-degree haemorrhoids, hypertrophied anal papilla, polyps and rectal
prolapse. Common presenting lumps include skin tags, fourth-degree piles and perianal warts
Anorectal lumps
is usually the legacy of an untreated perianal haematoma. It may require excision
for aesthetic reasons, for hygiene or because it is a source of pruritus ani or irritation. A tag may
be associated with a chronic fissure.
Skin tags
Treatment (method of excision)
A simple elliptical excision at the base of the skin tag is made under local anaesthetic. Suturing
of the defect is usually not necessary. Perianal incisions/excisions rarely become infected.
Skin tags
It is important to distinguish the common viral warts from the condylomata lata of secondary
syphilis. Local therapy includes the application of podophyllin every 2 or 3 days by the
practitioner or imiquimod. Cryotherapy or diathermy are alternatives
Perianal warts
This is protrusion from the anus to a variable degree of the rectal mucosa (partial) or the full
thickness of the rectal wall.
Rectal prolapse
It appears to be associated with constipation and chronic straining,
leading to a lax sphincter.
Rectal prolapse
Features can include mucus discharge, bleeding, tenesmus, a solitary
rectal ulcer and faecal incontinence (75%).
Rectal prolapse
Visualisation of the prolapse is an important part of the diagnosis.
Rectal prolapse
Surgery such as rectopexy
(fixing the rectum to the sacrum) is the only effective treatment for a complete prolapse
Rectal prolapse
Temporary shrinking of a visible prolapse in an emergency situation can be achieved by a liberal
sprinkling of fine crystalline sugar.
Rectal prolapse
Haemorrhoids or piles are common and tend to develop between the ages of 20 and 50 years.
Internal haemorrhoids
In
developed nations, roughly one in two adults has had a haemorrhoid by the age of 50.2
Internal haemorrhoids
Internal
haemorrhoids are a complex of dilated arteries, branches of the superior haemorrhoidal artery
and veins of the internal haemorrhoidal venous plexus
Internal haemorrhoids
The commonest cause is
chronic constipation related to a lack of dietary fibre and inappropriate bowel habit.
Internal haemorrhoids
Stage 1: First-degree internal haemorrhoids: three bulges form above the dentate line. ______________________is common.
Bright
bleeding
Stage 2: Second-degree internal haemorrhoids: the bulges increase in size and slide
downwards so that the person is aware of lumps when straining at stool, but they disappear
upon relaxing. ________________is a feature.
Bleeding
Stage 3: Third-degree internal haemorrhoids: the pile continues to enlarge and slide
downwards, requiring manual replacement to alleviate discomfort. _____________is also a feature.
Bleeding
Bleeding is the main and, in many people, the only symptom. The word ‘haemorrhoid’ means
flow of blood. Other symptoms include prolapse, mucoid discharge, irritation/itching, tenesmus,
incomplete bowel evacuation and pain
internal haemorrhoids
Stage 4: Fourth-degree internal haemorrhoids: prolapse has occurred and replacement of the
prolapsed pile into the anal canal is ___________________
impossible
Bleeding is the main and, in many people, the only symptom
internal haemorrhoids
Other symptoms include prolapse, mucoid discharge, irritation/itching, tenesmus,
incomplete bowel evacuation and pain
internal haemorrhoids
Invasive treatment of haemorrhoids is based on three main procedures: rubber band ligation,
cryotherapy and _________________
sphincterotomy
Injection is now not so favoured, while a meta-analysis
concluded that rubber band ligation was the most effective non-surgical therapy
haemorrhoids
Surgery is
generally reserved for large strangulated piles
haemorrhoids
The best treatment, however, is prevention;
softish bulky faeces that pass easily prevent _________________
haemorrhoids
People should be advised to have an
adequate intake of non-caffeinated fluids and a diet with enough fibre by eating plenty of fresh
fruit, vegetables, wholegrain cereals or bran
haemorrhoids
They should respond to the urge to defecate and
avoid straining at stool, complete their bowel action within a few minutes and avoid using
laxatives
haemorrhoids
Anal discharge refers to the involuntary escape of fluid from or near the anus.
Anal discharge
Continent Anal fistula Pilonidal sinus STIs: anal warts, gonococcal ulcers, genital herpes Solitary rectal ulcer syndrome Cancer of anal margin
Anal discharge
Incontinent
Minor incontinence—weakness of internal sphincter
Severe incontinence—weakness of levator ani and puborectalis
3. Partially continent
Faecal impaction
Rectal prolapse
Anal discharge
Apart from ageing, risk factors include perianal injury, such as childbirth injury, anal surgery,irritable bowel syndrome and neurological disorders.
Anal (faecal) incontinence
If there are symptoms of anal incontinence postnatally, early referral to a physiotherapist,
continence nurse adviser or colorectal surgeon is advisable
Anal (faecal) incontinence
Among the various treatments there are surgical possibilities, which vary from direct sphincter repair, directed injections such as collagen and silicone into the anal sphincter, and an artificial anal sphincter (e.g. Acticon Neosphincter).
Anal (faecal) incontinence
Patients present with any degree of bleeding from a smear on the toilet tissue to severe
haemorrhage.
Rectal bleeding
Common causes are polyps, colon
and rectal cancer, ischaemic colitis, diverticular disease and haemorrhoids.
Rectal bleeding
Local causes of bleeding include excoriated skin, anal fissure, a burst perianal haematoma and
anal cancer.
Various causes of rectal bleeding
Black tarry (melaena) stool indicates bleeding from the upper gastrointestinal tract and is rare distal to the lower ileum. Those with melaena should be admitted to hospital.
rectal bleeding
Bright red blood in toilet
separate from faeces
Internal haemorrhoids
Bright red blood on toilet paper
Internal haemorrhoids Fissure Anal cancer Pruritus Anal warts and condylomata
Blood and mucus on
underwear
Third-degree haemorrhoids Fourth-degree haemorrhoids Prolapsed rectum Mucosal prolapse Prolapsed mucosal polyp
Ulcerated perianal haematoma
Anal cancer
Blood on underwear (no
mucus)
Colorectal cancer Proctitis Colitis, ulcerative colitis Large mucosal polyp Ischaemic colitis
Blood and mucus mixed with
faeces
Blood mixed with faeces (no
mucus)
Small colorectal polyps
Small colorectal cancer
Melaena (black tarry stools)
Gastrointestinal bleeding (usually upper) with long transit time to the anus
Large volumes of mucus in
faeces (little blood)
Villous papilloma of rectum
Villous papilloma of colon
Blood in faeces with
menstruation
Rectal endometriosis
Frequent passage of blood and mucus indicates a rectal tumour or ______________,
proctitis
_____________
are 5 mm collections of dilated mucosal capillaries and thick-walled submucosal veins, found
usually in the ascending colon of elderly people who have no other bowel symptoms.
Angiodysplasias
bleeding is persistent and recurrent. The site is identified by technetium-labelled red cell scan or
colonoscopy.
Angiodysplasias
Age >50 years, especially new bleeding Change of bowel habit Weight loss Weakness, fatigue Brisk bleeding Constipation Haemorrhoids (may be sinister) Family history of cancer
Red flag pointers for rectal bleeding
which is itching of the anus, can be a distressing symptom that is worse at night,
during hot weather and during exercise
Pruritus ani
It is seen typically in adult males with considerable inner
drive, often at times of stress and in hot weather when sweating is excessive.
Pruritus ani
In children,
threadworm infestation should be suspected.
Pruritus ani
Consider also the more uncomfortable
lichen sclerosus with its ivory white sclerotic plaques, which may also be present in the genital
region.
Pruritus ani
Causes and aggravating factors Psychological factors: stress and anxiety fear of cancer Generalised systemic or skin disorders: seborrhoeic dermatitis eczema lichen sclerosus diabetes mellitus candidiasis psoriasis (look for fissures in natal cleft)
Pruritus ani
Urinalysis (?diabetes)
Anorectal examination
Scrapings and microscopy to detect organisms
Stool examination for intestinal parasites
Pruritus ani
Treat the cause (if known) and break the scratch cycle.
Avoid local anaesthetics, antiseptics.
Advise aqueous cream or a soap substitute to wash anus (instead of soap).
Most effective preparations (for short
13 courses):
methylprednisolone aceponate 0.1% in a fatty ointment; once daily until symptoms settle (up
to 4 weeks)
Pruritus ani
If an isolated area and resistant, infiltrate 0.5 mL of triamcinolone intradermally
Pruritus ani
Most cases of uncomplicated pruritus ani resolve with simple measures, including
explanation and reassurance.
Avoid perfumed soaps and powders. Use bland aqueous cream or a mild soap
substitute.
Otherwise prescribe a corticosteroid, especially methylprednisolone aceponate
0.1%. Once symptoms are controlled, use hydrocortisone 1%.
13
Lifestyle stress and anxiety underlie most cases.
In obese people with intertrigo and excessive sweating, strap the buttocks apart
with adhesive tape.
Consider perianal lichen simplex and lichen sclerosus in those presenting with ‘a
sore bottom’.
Practice tips for pruritus ani
Pain of ___________spinal origin may be referred anywhere to the chest wall, but the
commonest sites are the scapular region, the paravertebral region 2–5 cm from
midline and, anteriorly, over the costochondral region.
thoracic
Intervertebral disc prolapse is very uncommon in the ____________spine.
thoracic
The __________spine is the commonest site in the vertebral column for metastatic
disease.
thoracic
The commonest cause of ____________ back pain is musculoskeletal, due usually to
musculoligamentous strains caused by poor posture.
thoracic
pathological fracture, especially in people over 60 years, including both men and
women, must always be considered in acute thoracic pain.
Osteoporotic
_________conditions that can involve the spine include osteomyelitis, tuberculosis, brucellosis,
syphilis and Salmonella infections.
Infective
The three common primary malignancies that metastasise to the spine are those originating in the
______________ and the prostate (all paired structures).
lung, breast
back pain occurring in an older person
unrelenting back pain, unrelieved by rest (this includes night pain)
rapidly increasing back pain
constitutional symptoms (e.g. unexplained weight loss, fever, malaise)
a history of treatment for cancer (e.g. excision of skin melanoma)
The symptoms and signs that should alert the clinician to malignant disease are
malignant disease (e.g. multiple myeloma, lung, prostate) osteoporosis vertebral pathological fractures polymyalgia rheumatica Paget disease (may be asymptomatic) herpes zoster
Thoracic back pain in adults
The asymmetry may not be apparent until the patient tries to contract the serratus anterior against
resistance by pushing the outstretched arm against a wall.
Winging of the scapula
The common cause is neurogenic paralysis of the serratus anterior muscle
Winging of the scapula
Paralysis may result
from injury to the long thoracic nerve (from C5, 6, 7 nerve roots) such as a neck injury or a direct
blow to the suprascapular area and from injury to the brachial plexus such as excessive carrying
of heavy packs, severe traction on the arm or forceful cervical manipulation
Winging of the scapula
trigger point is characterised by local
tenderness in a muscle that twitches upon stimulation and causes referred pain when subjected to
pressure.
Myofascial trigger points
AKA chronic diffuse non-inflammatory pain. Its pathophysiology is poorly understood.
Fibromyalgia syndrome
a history of widespread pain (neck to low back) affecting all four body quadrants
- fatigue, sleep problems, cognitive disturbance
- pain in 11 of 18 tender points on digital palpation (the original definition in 1990)
- pain for at least 3 months
Fibromyalgia syndrome
Female to male ratio = 4:1
Usual age onset 29–37 years: diagnosis 44–53 years
Positive family history
Psychological disorders (e.g. anxiety, depression, tension headache, irritable digestive system)
Fibromyalgia syndrome
Management requires considerable explanation,
support (counselling) and reassurance
Fibromyalgia syndrome
Treat pain (simple analgesics—paracetamol) and depression (psychologist referral, antidepressants) on their merits
Fibromyalgia syndrome
Investigations should include an ESR, Bence–Jones protein analysis and
immunoglobulin electrophoresis
Multiple myeloma
Osteoporotic vertebral body collapse should be diagnosed only when multiple myeloma has been
excluded.
Multiple myeloma
Early treatment of multiple myeloma can hold this disease in remission for many years and
prevent crippling vertebral fractures
Multiple myeloma
Severe back pain in an unwell patient with fluctuating temperature (fever) should be considered
as infective until proved otherwise.
Infective discitis, vertebral osteomyelitis and
epidural/subdural abscess
Investigations should include blood cultures, serial X-rays
and nuclear bone scanning
Infective discitis, vertebral osteomyelitis and
epidural/subdural abscess
Biphasic bone scans using technetium with either indium or gallium
scanning for white cell collections usually clinch this diagnosis.
Infective discitis, vertebral osteomyelitis and
epidural/subdural abscess
Strict bed rest with high-dose antibiotic therapy is usually curative.
Infective discitis, vertebral osteomyelitis and
epidural/subdural abscess
Upper thoracic pain and stiffness is common after ‘__________’.
whiplash
Symptoms due to a fractured vertebra usually last 3 months and to a fractured rib
____________.
6 weeks
Consider ____________ as a cause of an osteoporotic collapsed vertebra.
multiple myeloma
______________ accounts for 2.6% of all presenting problems in Australian general
practice
Back pain
Approximately 85–90% of the population will experience ___________ at some stage
of their lives
back pain
At least 50% of these people will recover within 2 weeks and 90% within 6
weeks, but recurrences are frequent and have been reported in 40–70%
Back pain
It most commonly occurs in those aged 30–60 years, the average age being 45
years.
Back pain
L5 and S1 nerve root lesions represent most of the cases of sciatica presenting
in general practice.
Back pain
An intervertebral disc prolapse is causative in only 6–8% of cases of back pain,
3
and only a small fraction of those require urgent diagnosis and surgical
treatment.
Back pain
The commonest cause of low back pain is vertebral dysfunction or mechanical pain, which then
has to be further analysed.
low back pain
Degenerative changes in the lumbar spine (lumbar spondylosis) are commonly found in the older
age group
low back pain
It is important to consider malignant disease, especially in an older person
low back pain
Age >50 years or <20 years; consider osteoporosis
History of cancer
Temperature >37.8°C
Constant pain—day and night esp. severe night pain
Unexplained weight loss
Symptoms in other systems, e.g. cough, breast mass
Significant trauma; sometimes mild trauma
Features of spondyloarthropathy, e.g. peripheral arthritis (e.g. age <40 years, nighttime waking)
Neurological deficit, e.g. numbness, paraesthesia in limb
Drug or alcohol abuse, especially IV drug use
Use of anticoagulants
Use of corticosteroids
No improvement over 1 month
Possible cauda equina syndrome:
saddle anaesthesia
recent onset bladder dysfunction/overflow incontinence
bilateral or progressive neurological deficit
low back pain
Chronic back pain is more likely to occur in people who have become anxious about their
problem or who are under excessive stress.
Psychogenic considerations
aching throbbing pain =
inflammation (e.g. sacroiliitis)
deep aching diffuse pain =
referred pain (e.g. dysmenorrhoea)
superficial steady diffuse pain =
= local pain (e.g. muscular strain)
boring deep pain =
bone disease (e.g. neoplasia, Paget disease)
intense sharp or stabbing (superimposed on a dull ache) =
radicular pain (e.g. sciatica)
Continuous pain, present day and night, is suggestive of
neoplasia or infection
Pain provoked by activity and relieved by rest
suggests __________
mechanical dysfunction
while pain worse at rest and relieved by moderate activity is
typical of ____________
inflammation
Pain aggravated by standing or walking that is relieved by sitting is suggestive of
____________.
spondylolisthesis
Pain of the calf that travels proximally with walking indicates _____________
vascular claudication
pain in the
buttock that descends with walking indicates _____________claudication
neurogenic
This test is a passive test by the practitioner. The patient lies supine with both knees extended
and the ankle dorsiflexed. The affected leg is raised slowly, keeping the knee extended. If
sciatica with dural irritation is present, 20° to 60° of elevation causes reproduction of pain.
Straight leg raising (SLR) test (Lasègue test)
The slump test is an excellent provocation test for lumbosacral pain and is more sensitive than
the __________
SLR test
It is a screening test for a disc lesion and dural tethering. It should be performed on
those who have low back pain with pain extending into the leg, and especially for posterior thigh
pain.
Slump test
A positive result is reproduction of the patient’s pain, and may appear at an early stage of the test
(when it is ceased)
Slump test
The unaffected leg is straightened.
4. The affected leg only is then straightened
Both legs are straightened together.
6. The foot of the affected straightened leg is dorsiflexed.
The slump test
It is positive if the back or leg pain is reproduced.
Significance of the slump test
If positive, it suggests disc disruption.
If negative, it may indicate lack of serious disc pathology.
If positive, one should approach manual therapy with caution.
Significance of the slump test
femoral stretch test (prone, flex knee, extend hip)
motor: extension of knee
sensation: anterior thigh
reflex: knee jerk (L3, L4)
Significance of the slump test
motor: resisted inversion foot
sensation: inner border of foot to great toe
reflex: knee jerk
L4
motor: walking on heels, resisted extension great toe
sensation: middle three toes (dorsum)
reflex: nil
L5:
sensation: little toe, most of sole
reflex: ankle jerk (S1, S2)
S1:
_____________ of the lumbar spine are not recommended in acute non-specific low back pain (pain
<6 weeks) in the absence of ‘red flags’ as they are of limited diagnostic value and no benefits in
physical function are observed
Plain X-rays
These are most important for the patient presenting with chronic back pain, especially in the
presence of ‘red flags’,
plain X-ray urine examination (office dipstick) FBE; ESR/CRP serum alkaline phosphatase PSA in males >50 years
____________ test for ankylosing spondylitis and reactive arthritis
HLA-B27 antigen
serum electrophoresis for _________________ (paraprotein)
multiple myeloma
__________ for possible prostate cancer
PSA
______________ for pyogenic infection and bacterial endocarditis
blood culture
_________________ to demonstrate inflammatory or neoplastic disease and infections (e.g.
osteomyelitis) before changes are apparent on plain X-ray
bone scanning
__________________ studies to screen leg pain and differentiate neurological diseases
from nerve compression syndromes
electromyographic (EMG)
technetium pyrophosphate scan of SIJ for ____________________
ankylosing spondylitis
The big three metastases are from lung, breast and prostate.
diagnostic guidelines for spinal pain
The other three metastases are from thyroid, kidney/adrenal and melanoma
diagnostic guidelines for spinal pain
Pain with standing/walking (relief with sitting) =
spondylolisthesis
Pain (and stiffness) at rest, relief with activity =
inflammation
In a young person with inflammation, think of __________________.
ankylosing spondylitis
Stiffness at rest, pain with or after activity, relief with rest = __________________.
osteoarthritis
Pain provoked by activity, relief with rest = ___________________.
mechanical dysfunction
Pain in bed at early morning = _______________________.
inflammation, depression or malignancy/infection
Pain in periphery of limb = discogenic → radicular or vascular → claudication or spinal canal
stenosis → _________________
claudication
Pain in calf (ascending) with walking = ___________________
vascular claudication.
Pain in buttock (descending) with walking = ____________________
neurogenic claudication
The rule of thumb for the lumbar nerve root lesions is L3 from L2–3 disc, L4 from L3–4, L5
from L4–5 and ___________ from L5–S1.
S1
___________________ protrusion can cause bladder symptoms, either incontinence or retention.
A large disc
__________________ is still the most common cause of back pain in the elderly and
may represent a recurrence of earlier dysfunction
Mechanical spinal dysfunction
Special problems to consider are malignant disease, degenerative spondylolisthesis, vertebral
pathological fractures and occlusive vascular disease
the most common cause of back pain in the elderly
Mechanical disruption of the vertebral segment or segments is the foremost cause to consider,
while the main serious clinical syndromes are secondary to disruption with or without prolapse
of the intervertebral disc, usually L4–5 or L5–S1.
Acute back and leg pain due to vertebral dysfunction
caused by nerve root compression from a disc protrusion (most common cause),
tumour or narrowed intervertebral foramina typically produces pain in the leg related to the
dermatome and myotome innervated by that nerve root.
Radicular pain
The two nerve roots that account for most of these problems are L5 and S1, and the commonest
disc lesion is L4–5, closely followed by L5–S1
Radiculopathy
About 5% of the population have spondylolisthesis but not all are symptomatic. The pain is
caused by extreme stretching of the interspinous ligaments or of the nerve roots.
Spondylolisthesis
The onset of
back pain in many of these people is due to concurrent disc degeneration rather than a
mechanical problem
Spondylolisthesis
The pain is typically aggravated by prolonged standing, walking and
exercise.
Spondylolisthesis
Extension of the spine should be avoided, especially hyperextension.
Spondylolisthesis
also known as degenerative osteoarthritis or osteoarthrosis, is a common
problem of wear and tear that may follow vertebral dysfunction, especially after severe disc
disruption and degeneration.
Lumbar spondylosis
____________of the low back is the main feature of lumbar spondylosis.
Stiffness
Basic analgesics (depending on patient response and tolerance)
NSAIDs (judicious use)
Appropriate balance between light activity and rest
Exercise program and hydrotherapy (if available)—physiotherapy supervision
Regular mobilisation therapy may help
Consider trials of electrotherapy such as TENS
Consider decompressive surgery for spinal canal stenosis
Lumbar spondylosis
It is important to identify malignant disease and other space-occupying lesions as early as
possible because of the prognosis and the effect of a delayed diagnosis on treatment.
Malignant disease
If malignant disease is proved and ________is excluded, a search should be made for the six
main primary malignancies that metastasise to the spine
myeloma
The aim of treatment is to reduce pain, maintain function, and minimise disability and work
absenteeism and importantly the risk of chronicity.
Treatment options for back pain
Advice to stay active. Evidence from randomised controlled trials confirms that, in people with
acute low back pain, advice to stay active speeds symptomatic recovery, reduces chronic
disability and results in less time off work compared with bed rest or usual care.
Treatment options for back pain
Appropriate educational material leads to a clear insight into the causes and
aggravation of the back disorder plus coping strategies
Patient education
Treatment options for back pain
Thermography is beneficial. Heat in the form of heat bags, hot flannels and similar
methods can be of benefit, especially in the first 2–4 weeks of acute low back pain.
Treatment options for back pain
Exercises. An early graduated exercise program as soon as the acute phase settles has reasonable
evidence supporting it in primary care
Treatment options for back pain
Evidence indicates that paracetamol is ineffective for non-specific low back pain.
Treatment options for back pain
NSAIDs fare somewhat better than paracetamol in systematic reviews, showing some
improvements in pain and disability compared to placebo
Treatment options for back pain
Muscle relaxants (benzodiazepines, e.g. diazepam, or baclofen) are effective in the management of non‐specific low back pain
Treatment options for back pain
The role of opioids is limited because any pain-control benefits are outweighed by the potential
risks.
Treatment options for back pain
Corticosteroid injection under radio-image intensification is widely used in some clinics
Treatment options for back pain
Injections of local anaesthetic with or without corticosteroids are sometimes used for chronic
pain, especially for nerve root pain
Treatment options for back pain
Active exercises are the best form of physical therapy (see FIG.28.12a, b ).
Passive spinal stretching at the end range is a safe, effective method (see FIG. 28.14 ). Spinal
mobilisation is a gentle, repetitive, rhythmic movement within the range of movement of the
joint. It is safe and modestly effective, and a variation of stretching.
Treatment options for back pain
Spinal manipulation is a high-velocity thrust at the end range of the joint. It seems to produce a
faster response, but requires greater skill.
Treatment options for back pain
= pain less than 6 weeks
Acute pain
= pain 6–12 weeks
Subacute pain
pain greater than 12 weeks
Chronic pain =
Explanation and reassurance about no evidence of serious damage or disease;
cognitive behaviour therapy
Back education program
Encouragement of normal daily activities, including work, and taking responsibility
for own management
Optional non-opioid analgesics (NSAIDs)
Prescribe exercises (provided non-aggravating)
Physical therapy: stretching of affected segment, consider spinal mobilisation or
manipulation (if no contraindication)
8,14,25
Review in about 5 days (probably best time for consideration of physical therapy)
No investigation needed initially
Management of non-specific acute low back pain
is a more complex and protracted problem to treat, but most cases will gradually settle
within 12 weeks
Sciatica
Explanation and reassurance
Back education program
Resume normal activities as soon as possible
Regular non-opioid analgesics with review as the patient mobilises
NSAIDs for 10–14 days, then cease and review (low-quality evidence for mild improvement,
but with side effects)
28
If severe pain unrelieved, add an opioid that works well for the patient, such as tapentadol SR
50 mg (o) bd as necessary, for short-term use
27
Walking and swimming
Weekly or 2-weekly follow-up
Consider: a course of corticosteroids for very severe pain,
8 e.g. prednisolone 50 mg for 5 days,
then 25 mg for 5 days, gradually tapering to 3 weeks in total
Sciatica with or without low back pain
back education program and ongoing support
encouragement of normal activity
exercise program
mindfulness-based stress reduction (evidence based)
paracetamol (e.g. 500 or 665 mg (o) 8 hourly) although not tested in any RCT
NSAIDs for 14 days (especially if inflammation, i.e. pain at rest—relieved by activity and
poor response to non-pharmacological treatment) and review
antidepressants (but only if depressed)
30
trial of mobilisation or manipulation (at least three treatments)—if no contraindications
19,31
(low-quality evidence)
consider a multidisciplinary rehabilitation team approach or a ‘back school’ (but evidence
again suggests just trivial improvement)
Chronic back pain
Absolute
Bladder/bowel control disturbance; perineal sensory change
Progressive motor disturbance (e.g. significant foot drop, weakness in quadriceps)
General guidelines for surgical intervention for radiculopathy
Relative
Severe prolonged pain or disabling pain
Failure of conservative treatment with persistent pain (problem of permanent
nerve damage)
If all four of the following criteria are met:
8
leg pain equal to or worse than back pain
positive straight leg raise test
no response to conservative therapy after 4–6 weeks
imaging shows a lesion corresponding to symptoms
General guidelines for surgical intervention for radiculopathy
Myelopathy, especially acute cauda equina compression syndrome
Severe radiculopathy with progressive neurologic deficit
Spinal fractures
Urgent referral
Back pain that is related to posture, aggravated by movement and sitting, and
relieved by lying down is due to __________________, especially a disc disruption.
vertebral dysfunction
The pain from most disc lesions is generally relieved by _________.
rest
Plain X-rays are of limited use, especially in younger patients, and may appear
normal in __________.
disc prolapse
Remember the possibility of depression as a cause of back pain; if suspected,
consider a trial of ________________
antidepressants
If back pain persists, possibly worse during bed rest at night, consider _____________
disease, depressive illness or other systemic diseases.
malignant
Pain that is worse on standing and walking, but relieved by sitting, is probably
caused by _________.
spondylolisthesis
If pain and stiffness is present on waking and lasts longer than 30 minutes upon
activity, consider __________
inflammation
Bilateral back pain is more typical of systemic diseases, while unilateral pain
typifies _________causes.
mechanical
Back pain at rest and morning stiffness in a young person demand careful
investigation: consider inflammation such as ankylosing spondylitis and ______________
reactive
arthritis
A large central disc protrusion can cause bladder symptoms, either _____________
or retention.
incontinence
The T12–L1 and L1–2 discs are the ___________pain discs.
groin
The L4–5 disc is the _______pain disc
back
The L5–S1 disc is the ________pain disc.
leg
Severe limitation of SLR (especially to less than 30°) indicates _________disc
prolapse.
lumbar
When someone describes ‘bruising easily’ it is important to exclude
thrombocytopenia due to bone marrow disease and clotting factor deficiencies
such as ____________.
haemophilia
The commonest cause of an acquired bleeding disorder is ___________ (e.g.
aspirin, NSAIDs, cytotoxics and oral anticoagulants)
drug therapy
Bleeding secondary to _____defects is usually spontaneous, associated with a
petechial rash and occurs immediately after trauma or a cut wound
platelet
Bleeding caused by _________factor deficiency is usually traumatic and
delayed
coagulation
coagulation deficiencies (reduction or inhibition of circulatory coagulation factors) platelet abnormalities: of platelet number or function vascular defects: of vascular structure or endothelium
Bleeding disorders can result from
___________
haemostatic disorders which are the most common include von Willebrand disease (vWD),
thrombocytopenia and platelet function disorders.
Primary
A common condition is haemorrhagic disease of the newborn, which is a self-limiting disease
usually presenting on the second or third day of life because of a deficiency of coagulation
factors dependent on ____________. The routine use of prophylactic __________________ in the newborn infant
has virtually eliminated this problem.
vitamin K
_____________________ is the commonest of the primary platelet
Page 346
disorders in children. Both acute and chronic forms have an immunological basis. The diagnosis
is based on the peripheral blood film and platelet count. The platelet count is commonly below
50 000/mm3
(50 × 10
9
/L). Spontaneous remission within 4 to 6 weeks occurs with acute ITP in
childhood.
Idiopathic (immune) thrombocytopenic purpura (ITP)
which is a type of IgA vasculitis, is the commonest vasculitis of children.
Henoch–Schönlein purpura
It affects the
small vessels, producing a leucocytoclastic vasculitis with a classic triad of nonthrombocytopenic purpura, large joint arthritis and abdominal pain
Henoch–Schönlein purpura
It is diagnosed clinically by
the characteristic distribution of the rash (palpable purpura) over the lower limbs, extending onto
the buttocks
Henoch–Schönlein purpura
All ages, mainly in children 2–8 years
Rash, mainly on buttocks and legs (see FIG. 29.4 )
5
Rash can occur on hands, arms and trunk
Arthritis (in two-thirds): mainly ankles and knees
Abdominal pain—colicky (vasculitis of GIT)
Haematuria (in 90%): reflects nephritis
Henoch–Schönlein purpura
Kidney involvement—deposition of IgA immune complex (a serious complication)
Melaena
Intussusception
Scrotal involvement
Henoch–Schönlein purpura
Largely symptomatic—analgesics
No specific therapy
Short course of steroids for abdominal pain (if intussusception excluded)
If haematuria: follow-up urine microscopy and kidney function especially if no resolution (in
approximately 5%)
Henoch–Schönlein purpura
DxT arthralgia + purpuric rash ± abdominal pain →
Henoch–Schönlein purpura
Acute onset in children
Easy bruising and petechiae
Epistaxis, bleeding gums and menorrhagia common
Isolated thrombocytopenia: platelets may be <20 000/mm3
Other blood cells normal
Otherwise normal physical examination
Normal bone marrow with normal or increased megakaryocytes (acute leukaemia and aplastic
anaemia should be excluded)
Immune (idiopathic) thrombocytopenic purpura
DxT bruising + oral bleeding + epistaxis →
Immune (idiopathic) thrombocytopenic purpura
The two distinct types caused by immune destruction of the platelets are:
acute thrombocytopenia of childhood—usually in children, usually postviral
chronic ITP—autoimmune disorder, usually in adult women; all cases should be referred to a
specialist unit
Immune (idiopathic) thrombocytopenic purpura
This is caused by a reaction to a viral infection resulting in the production of cross-reacting
antibodies against platelets.
Immune (idiopathic) thrombocytopenic purpura
Bleeding is treated with immunoglobulin IV or steroids (prednisolone or dexamethasone).
Immune (idiopathic) thrombocytopenic purpura
_______________ is a relapsing illness that rarely undergoes spontaneous remission and may require
treatment with steroids, intravenous immunoglobulin or biological agents, e.g. rituximab.
Chronic ITP
Some require splenectomy, but this operation is avoided where possible,
especially in young children, because of the subsequent risk of severe infection, particularly with
Streptococcus pneumoniae
Chronic idiopathic (immune) thrombocytopenic purpura
This is an uncommon life-threatening syndrome of haemolytic anaemia, thrombocytopenia and
extremely high LDH. Clinical features include fever (non-infectious) and neurologic and kidney
abnormalities. The defect is in the absence of a specific protease in the plasma.
Thrombotic thrombocytopenic purpura
This is the most common disorder of haemostasis (incidence 1% of population) and is usually a
mild problem with an excellent prognosis.
7 There are multiple subtypes—type I, the mildest,
accounts for about 75%.
von Willebrand disease
Autosomal dominant inheritance (common types) Equal sex incidence Classically presents with mucocutaneous bleeding Prolonged bleeding time Bleeding tendency exacerbated by aspirin Platelets normal (common types) Defective platelet adhesion at site of trauma combined with factor VIII deficiency 7 aPTT prolonged Positive vW factor antigen (low) vW factor ristocetin (low) vW factor collagen binding assay Menorrhagia and epistaxis common Haemarthroses rare
von Willebrand disease
DxT menorrhagia + bruising + increased bleeding—1. incisions 2. dental
3. mucosal →
von Willebrand disease
Avoid aspirin, NSAIDs, IM injections
Be cautious of surgical and dental procedures
Preparations that help include desmopressin acetate (DDAVP), factor VIII concentrates and
tranexamic acid (especially for minor procedures)
von Willebrand disease
Spontaneous haemarthroses, especially knees, ankles and elbows, are almost pathognomonic
X-linked recessive pattern of inheritance
Invariably only males affected (1 in 5000)
Females theoretically affected if haemophiliac father and carrier mother
The human factor gene has long been identified
Severity levels:
severe—bleed spontaneously
moderate—bleed with mild trauma or surgery
mild—bleed after major trauma or surgery
Deficiency of factor VIII
aPTT prolonged
Normal prothrombin time and fibrinogen
Many seropositive for HIV, hepatitis B or C (factor VIII concentrate transmission)
Low platelet count should suspect HIV-associated ITP
Haemophilia A
Infusion of recombinant factor VIII concentrates
Haemophilia A
Identical clinical features to haemophilia A
Also an X-linked recessive hereditary disorder
Incidence of 1 in 30 000
Deficiency of coagulation factor IX
Same laboratory findings as haemophilia A apart from specific factor assays
Treatment is with recombinant factor IX concentrates
Haemophilia B (Christmas disease)
Splenectomy
Main indications:
immune thrombocytopenic purpura haemolytic anaemias, esp. hereditary spherocytosis hypersplenism trauma Hodgkin/non-Hodgkin lymphoma
Immediate problem is thrombocytosis (↑ platelets to 600–1000 × 10
9
/L) for 2–3 weeks with risk
of thromboembolism.
Long-term risk is overwhelming infection (S. pneumoniae [especially], Haemophilus influenzae
and meningococcus), especially in young children in the first 2–3 years post-splenectomy. For
elective surgery give immunisation at least 2 weeks before surgery. Best under specialist
guidance. Lifelong prophylaxis should be considered in select patients such as those severely
immunocompromised.
Post-splenectomy management
Pneumococcal and meningococcal vaccines—depends on age and should be guided by
immunisation guidelines
Haemophilus influenzae type B vaccine—once only if not immunised
Influenza vaccine—annual
Long-term penicillin may be indicated: amoxicillin daily or phenoxymethylpenicillin bd
Urgent hospital admission if infection develops
Post-splenectomy management
Control bleeding episodes with appropriate drugs, blood products and local measures, such as
simple compression or topical haemostatic agents.
Infuse appropriate blood components for the treatment of coagulation factor deficiencies and
some platelet disorders (e.g. factor VIII for haemophilia A, fresh frozen plasma for multiple
factor deficiency).
Refer patients with identified defects to a consultant haematologist or haemophilia centre.
Supervise advanced planning in patients intending pregnancy, surgery or dental extraction.
Management principles for abnormal bleeding
Think of ____________________ in any acutely ill patient with
abnormal bleeding from sites such as the mouth or nose, venepuncture or with
widespread ecchymoses. The clinical situations are numerous, such as
septicaemia, obstetric emergencies, disseminated malignant disease, falciparum
malaria and snake bites.
disseminated intravascular coagulation (DIC)
Chest pain represents an _______________ until proved otherwise
acute coronary event
Immediate life-threatening causes of spontaneous chest pain are
myocardial infarction (MI) and unstable angina (acute coronary syndromes: ACS) pulmonary embolism aortic dissection tension pneumothorax
The commonest causes encountered in general practice are musculoskeletal or chest wall pain
and psychogenic disorders
Probability diagnosis
for acute chest pain
Dizziness/syncope Pain or heaviness/pressure in arms L > R, jaw Thoracic back pain Sweating/diaphoresis Palpitations Syncope Haemoptysis Dyspnoea Pain on inspiration Pallor Past history: ischaemia, diabetes, hypertension
Red flag pointers for acute chest pain
Spontaneous pneumothorax should also be considered, especially in a young male of slight build.
acute chest pain
This is the key test for defining chest pain as cardiac in origin. Physical stress, such as the motordriven treadmill or a bicycle ergometer, is used to elicit changes in the ECG to diagnose
myocardial ischaemia
Exercise stress test
This radionuclide myocardial perfusion scan using thallium can complement the exercise ECG
Exercise thallium scan
Damaged (necrosed) myocardial tissue releases cellular enzymes, which are markers of this
damage:
troponin T and troponin I (the key marker)–on arrival and 2 hours later (ADAPT trial
protocol)
creatinine kinase (CK) and creatinine kinase–myocardial bound fraction (CK–MB)
myoglobin
Serum enzymes
Coronary artery disease includes the acute coronary syndromes (unstable angina and myocardial
infarction), stable angina and other variants of angina.
Myocardial ischaemia
The pain of angina tends to last a few minutes only (average 3–5 minutes) and is
relieved by rest and glyceryl trinitrate (nitroglycerin). The pain may be precipitated by an
arrhythmia.
Stable angina
Ischaemic pain lasting longer than 15–20 minutes is usually infarction.
However, it can resolve in a few minutes or within 24 hours. The pain is typically heavy and
crushing, and can vary from mild to intense. Occasionally the attack is painless, typically with
diabetes. Pallor, sweating and vomiting may accompany the attack.
Myocardial infarction
This term includes rest angina, new onset effort angina, post-infarct angina
and post-coronary procedure angina
Unstable angina.
For management purposes it is best to classify the clinical presentation of acute
ischaemic chest pain as an ST elevation myocardial infarction (STEMI) or a non-ST
elevation acute coronary syndrome (NSTEACS), which includes NSTEMI and
________.
unstable angina
Chest pain is present in 75% of dissections. The pain—which is usually sudden, unrelenting,
severe and midline—has a tearing or ripping sensation and is usually situated retrosternally and
between the scapulae
Aortic dissection
It radiates to the abdomen, flank and legs. An important
diagnostic feature is the inequality in the pulses (e.g. carotid, radial and femoral).
Aortic dissection
Investigations include transoesophageal
electrocardiogram, CT angiogram and MRI.
Aortic dissection
This may have a dramatic onset following occlusion of the pulmonary artery or a major branch,
especially if more than 50% of the cross-sectional area of the pulmonary trunk is occluded.
Pulmonary embolism
The diagnosis can present clinical difficulties, especially when dyspnoea is present without pain.
Pulmonary embolism
It can be asymptomatic. Embolism usually presents with retrosternal chest pain (see FIG. 30.6 )
and may be associated with syncope and breathlessness
Pulmonary embolism
The diagnosis is usually confirmed by a CT pulmonary angiogram (best) and/or
V/Q scan (see later in chapter) and ECG (look for T-wave inversion V1–V4).
Pulmonary embolism
Inflammation of the pleura is due to underlying pneumonia (viral or bacterial), pulmonary
infarction, tumour infiltration or connective tissue disease (e.g. SLE).
Pleuritis
Often sudden onset
Pain usually localised without radiation
Sharp knife-like pain
Continuous pain with sharp exacerbations
Aggravated by inspiration, sneezing and coughing
May be associated dyspnoea, cough, haemoptysis
Pleuritis
The clinical presentation depends on the cause, whether viral (commonest), a connective tissue
disorder, bacterial, uraemia or post-AMI. It may be idiopathic. There may be fever, malaise,
fatigue and anxiety
Acute pericarditis
Signs: friction rub, tachycardia, paradoxical pulse
Investigations: ECG, CXR, echocardiography
Acute pericarditis
pleuritic (the commonest), aggravated by cough and deep inspiration, sometimes brought on
by swallowing; worse with lying flat, relieved by sitting up and leaning forward
2. steady, crushing, retrosternal pain radiating to neck and arms that mimics myocardial
infarction
3. pain synchronous with the heartbeat and felt over the praecordium and left shoulder
Pericarditis
The cardinal sign is a pericardial friction rub (often transient). Treatment depends on the cause—
Table 30.3
Page 358
Page 359
may be colchicine (3 months) plus aspirin or ibuprofen (1–2 weeks).
Pericarditis
The acute onset of pleuritic pain and dyspnoea in a person with a history of asthma or
emphysema is the hallmark of a pneumothorax
Spontaneous pneumothorax
It is due to a rupture of a subpleural ‘bleb’ or a
small air-containing cyst
Spontaneous pneumothorax
It often occurs in young, slender males without a history of lung
disorders. The pain varies from mild to severe and can be felt anywhere in the chest, sometimes
being retrosternal
Spontaneous pneumothorax
If a tension pneumothorax becomes painful and dyspnoea becomes rapidly more intense, urgent
decompression of air is essential (see later in chapter)
Spontaneous pneumothorax
can cause oesophagitis characterised by a burning epigastric or
retrosternal pain that may radiate to the jaw
Gastro-oesophageal reflux
Consider oesophageal rupture if sudden onset after
endoscopy
Oesophageal pain
The pain is aggravated or precipitated by lying flat or bending over, especially after
meals, and is more frequent at night.
Oesophageal pain
The pain is worse if oesophageal spasm is present.
Oesophageal motor disorders, including spasm, may occur in isolation. The pain may radiate
uncommonly to the back
Oesophageal pain
It may be precipitated by eating, especially hot or
cold food and drink, and may be relieved by eating or by glyceryl trinitrate (nitroglycerin) and
other nitrates
Oesophageal pain
The commonest cause of pain of spinal origin is vertebral dysfunction of the lower cervical or
upper dorsal region
Spinal pain
The spinal problem may be a disc prolapse (relatively
common in the lower cervical spine, but rare in the upper thoracic spine) or dysfunction of the
facet joints or costovertebral joints causing referred pain.
Spinal pain
This referred pain can be present
anywhere in the chest wall, including anterior chest, which causes confusion with cardiac pain
Spinal pain
The pain is dull and aching. It may be aggravated by exertion, certain body
movements or deep inspiration. The old trap for unilateral nerve root pain is herpes zoster.
Spinal pain
This causes mild to moderate anterior chest wall pain that may radiate to the chest, back or
abdomen.
Costochondritis
It is usually unilateral, sharp in nature and exaggerated by breathing, physical activity
or a specific position
Costochondritis
It is diagnosed by eliciting tenderness at the costochondral junction of the affected ribs
and needs to be differentiated from Tietze syndrome, where there is a tender, fusiform swelling
at the costochondral junction
Costochondritis
Chest pain is a very important symptom in the elderly as the life-threatening cardiovascular
conditions—myocardial infarction and angina, dissecting aneurysm and ruptured aorta—are an
increasing manifestation with age.
Chest pain in the elderly
The elderly patient presenting with chest pain is most likely to
have angina or myocardial infarction.
Chest pain in the elderly
There is a 2–3% incidence between 25 and 64 years.
10
The history is the basis of diagnosis.
Angina is an oppressive discomfort rather than a pain, typically transient and lasting <10 mins.
It is mainly retrosternal: radiates to arms, jaw, throat, back.
It may be associated with shortness of breath, nausea, faintness and sweating.
Chest pain in the elderly
Angina pectoris
Pain occurs with exertion and is usually predictable with no symptom change
during the past month.
Stable angina
It is increasing angina (severity and duration) over a short period of time,
precipitated by less effort and may come on at rest, especially at night. It may eventually lead
to complete infarction, often with relief of symptoms. It is due to unstable plaque.
Unstable angina
This is positive in about 75% of those with severe coronary artery disease and should be
performed if the diagnosis is in doubt, for prognostic reasons or to aid in the timing of additional
investigations (e.g. coronary angiography). A normal stress test does not rule out coronary artery
disease.
Exercise ECG
Occasionally useful for detecting intermittent rhythm disturbances.
Ambulatory ECG Holter monitoring
This assesses global and regional wall motion abnormalities, valvular dysfunction and
pericardium status
Echocardiography
This test accurately outlines the extent and severity of coronary artery disease (see FIG. 30.13 ).
It is usually used to determine the precise coronary artery anatomy prior to surgery. CT
angiography provides a safer alternative in many circumstances.
Coronary angiography
Strong positive exercise stress test
Suspected left main coronary artery disease
Angina resistant to medical treatment
Suspected but not otherwise proven angina
Acute coronary syndromes
Angina after myocardial infarction
Patients over 30 years with aortic and mitral valve disease being considered for
valve surgery
Indications for coronary angiography
This is especially important for those with a positive family history and an unsatisfactory lifestyle. Modification of risk factors: no smoking weight reduction healthy eating/optimal low-fat diet exercise control of hypertension control of diabetes control of blood lipids
Management of stable angina
Nitrates: glyceryl trinitrate 300–600 mcg tab sublingually, max 1800 mcg or glyceryl trinitrate SL 400 mcg metered dose spray: 1 spray; repeat after 5 minutes if pain persists (maximum three doses) or isosorbide dinitrate 5 mg sublingually; repeat every 5 minutes if pain persists (maximum 3 tablets) or aspirin 150 mg (o) or if intolerant to nitrates nifedipine 5 mg capsule (suck or chew)
The acute attack and episodic angina
if pain persists for longer than 10 minutes despite two doses of nitrates, take a third dose and
call for an ambulance
warn about headache and other side effects
sit down while administering
take ½ (initially) or 1 tablet or 1 spray every 5 minutes
take a maximum of 3 doses in 15 minutes
keep tablets out of light and heat—discard the bottle after being opened for 3 months or after 2
days if carried on the person
Tips about glyceryl trinitrate:
Regular predictable attacks precipitated by moderate exertion. For prevention:
add to aspirin (if not contraindicated)
beta blocker, e.g. atenolol 25 mg (o) once daily, increasing to 100 mg if required
or
metoprolol 25 mg (o) twice daily, increasing to 100 mg if required
plus nitrates
glyceryl trinitrate 5–15 mg (transdermal patch) daily (use for 14 hours only)
or
isosorbide mononitrate 30 mg (o) SR tablet mane, increasing to 120 mg if required
Note: Aim for a daily nitrate-free interval.
Moderate stable angina
Not prevented by beta blocker: add a dihydropyridine calcium-channel blocker (CCB) nifedipine CR 30–60 mg (o) once daily or amlodipine 2.5–10 mg (o) once daily plus nitrates If beta blocker contraindicated (use a non-dihydropyridine calcium-channel blocker): diltiazem MR 180–360 mg (o) daily
Persistent angina
Includes onset of angina at rest, abrupt worsening of angina and angina following acute
myocardial infarction.
Should be hospitalised for stabilisation and further evaluation. May need IV nitrate therapy.
The objectives are to optimise therapy and consider coronary angiography with a view to a
corrective procedure.
Unstable angina
As a rule, avoid the combination of verapamil and a beta blocker (risk of tachycardia and _________).
heart
block
Do not combine a ______________CCB with a non-dihydropyridine CCB
dihydropyridine
______________to nitrate use is a problem, so 24-hour coverage with long-acting preparations is not
recommended.
Tolerance
________can be used prophylactically prior to any exertion that is likely to provoke angina (e.g.
glyceryl trinitrate spray or tablet or isosorbide dinitrate 5 mg tablet)
Nitrates
Avoid ________if the patient has used a 5 phosphodiesterase inhibitor in the past 1–5 days.
nitrates
Avoid ________if the patient has used a 5 phosphodiesterase inhibitor in the past 1–5 days.
nitrates
A common technique is dilating coronary atheromatous obstructions by inflating a balloon
against the obstruction—percutaneous transluminal coronary angioplasty (PTCA)
Percutaneous intervention (PCI) and coronary angioplasty (the gold standard)
Two complications of the balloon inflation angioplasty are acute coronary occlusion (2–4%) and
restenosis, which occurs in 30% in the first 6 months after angioplasty
Percutaneous intervention (PCI) and coronary angioplasty (the gold standard)
PTCA followed by stenting is the most favoured procedure to maintain patency of the obstructed coronary vessel (see FIG. 30.15 ). Drug eluting stents, which include drugs such as pimecrolimus, sirolimus or paclitaxel, can be used as well as the bare metal stent.
Percutaneous intervention (PCI) and coronary angioplasty (the gold standard)
Stent patients
require long-term antiplatelet agents (e.g. aspirin plus clopidogrel) (specialist advice is required).
Percutaneous intervention (PCI) and coronary angioplasty (the gold standard)
The main surgical techniques in current use are coronary artery bypass grafting (CABG) using
either a vein (usually the saphenous) (see FIG. 30.16 ) or internal mammary arterial
implantation (see FIG. 30.17 ) or both, and endarterectomy.
Coronary artery surgery
Symptomatic patients with significant left main coronary obstruction should undergo bypass
surgery, and those with two or three vessel obstruction and good ventricular function are often
considered for angioplasty or surgery
Coronary artery surgery
Variable pain; may be mistaken for indigestion
Similar to angina but more oppressive
So severe, patient may fear imminent death—angor animi
Myocardial infarction
About 20% have no pain. These have a high mortality rate
‘Silent infarcts’ in females, elderly and those with diabetes or hypertension.
60% of those who die do so before reaching hospital, within 2 hours of the onset of symptoms
In those who arrive alive, hospital mortality is 8–10%12
Like CVA, seems to peak at 6–10 am
Diagnosis is based on 2 out of 3 criteria: history of prolonged ischaemic pain, typical ECG
appearance, and rise and fall of cardiac enzymes.
Myocardial infarction
Thrombosis with occlusion
Haemorrhage under a plaque
Rupture of a plaque
Coronary artery spasm
Myocardial infarction
large infarcts tend to produce high serum enzyme levels. The elevated enzymes can help time
the infarct
Cardiac enzymes
starts rising at 3–12 hours, peaks at 24 hours and persists for about 5–14 days
positive in unstable angina
raised in aortic dissection and kidney impairment
may have to wait until 10 hours before recording a negative result
not useful for repeat MI
both proteins, I and T, provide same information
reference interval <0.1 µg/L
troponin I or T:
after delay of 6–8 hours from the onset of pain it peaks at 20–24 hours and usually
returns to normal by 48 hours
CK–MB: myocardial necrosis is present if >15% of total CK; unlike CK, it is not
affected by intramuscular injectionsFurther management of STEMI
creatinine kinase (CK)
This is used to assist diagnosis when other tests are not diagnostic.
Echocardiography
Aim for immediate attendance if suspected.
Pre-hospital: make diagnosis, assess risk, ensure stability. A 12-lead ECG should be arranged
ASAP.
Call a mobile coronary care unit.
Achieve coronary perfusion and minimise infarct size.
Prevent and treat cardiac arrest; have a defibrillator available to treat ventricular fibrillation
Management of acute coronary syndromes
Optimal treatment is in a modern coronary care unit (if possible) with continuous ECG
monitoring (first 48 hours) and a peripheral IV line (consider intranasal oxygen only if
hypoxaemic <94% saturation).
Pay careful attention to relief of pain and apprehension.
Establish a caring empathy with the patient.
Give aspirin as early as possible (if no contraindications): 300 mg chewed or dissolved
sublingually.
Prescribe a beta blocker and an ACE inhibitor early (if no contraindications).
Management of acute coronary syndromes
As for first-line management.
Confirm ECG diagnosis: STEMI or NSTEACS.
Take blood for cardiac enzymes, particularly troponin, urea and electrolytes.
Organise an urgent cardiology consultation for risk stratification and a decision whether to
proceed to coronary angiography and coronary reperfusion with PCI (or CABG) or with
thrombolysis.
Management of acute coronary syndromes
The optimal first-line treatment for the patient with a STEMI is urgent referral to a coronary
catheter laboratory ideally within 60 minutes (the golden hour) of the onset of pain for
assessment after coronary angiography for percutaneous transluminal coronary angioplasty
(PTCA). If available and performed by an interventional cardiologist it has the best outcomes
(level I evidence).
Management of STEMI
Within 60 minutes of symptom onset STEMI: PCI (optimal)
Page 368
Within 90 minutes of onset STEMI: PCI (acceptable)
If these targets are not reached: fibrinolysis within 30 minutes of arrival
For patients presenting >12 hours after onset of symptoms, consider reperfusion if:
continuing ischaemia
viable myocardium
major complications, e.g. cardiogenic shock
Urgent reperfusion guidelines
Perform an ECG and classify ACS into STEMI or NSTEACS, and notify the
medical facility that will receive the patient (discuss over the telephone). The
ECG is the sole test required to select patients for emergency perfusion
First-line management acute chest pain of possible cardiac
origin (e.g. outside hospital)
Oxygen 4–6 L/min only if hypoxaemic (aim to keep PaO2 >90%)
Secure an IV line (withdraw blood for tests, especially troponin levels)
Glyceryl trinitrate (nitroglycerin) 300 mcg (½ tab) SL or spray 400 mcg (every 5
minutes as necessary to maximum of three doses). Beware of sildenafil (Viagra)
and related drugs use and bradycardia—correct with atropine
Aspirin 300 mg
Morphine 2.5–5 mg IV statim bolus: then 1 mg/min every 5–10 mins until pain
relief (up to 15 mg) or fentanyl 25–50 mcg IV (If feasible, it is preferable to give IV
morphine 1 mg/min until relief of pain; this titration is easier in hospital.)
First-line management acute chest pain of possible cardiac
origin (e.g. outside hospital)
All patients with acute myocardial infarction should be considered for admission to a coronary
care unit for monitoring and expert care. The decision of reperfusion therapy by PCI or
fibrinolytic therapy will be determined by unit policy based on availability of PCI.
Reperfusion therapy
If angioplasty is unachievable either through timing or the unavailability of the service (such as
in rural locations), thrombolysis is an indication for STEMI and the sooner the better, but
preferably within 12 hours of the commencement of chest pain.
5,13 The decision should be made
by an experienced consultant, especially as PCI is not usually possible once fibrinolytic therapy
has been given.
Fibrinolytic therapy
Second-generation fibrin-specific agents (reteplase, alteplase or tenecteplase) are the agents of
choice. Streptokinase can be used but it is inappropriate for use in Aboriginal and Torres Strait
Islander people and those who have received it on a previous occasion. There are several other
contraindications for the use of fibrinolytic agents.
Fibrinolytic therapy
Full heparinisation for 24–36 hours (after rt-PA—not after streptokinase), especially for large
anterior transmural infarction with risk of embolisation, supplemented by warfarin.
Use LMW heparin (e.g. enoxaparin 1 mg/kg SC bd or unfractionated heparin 5000–7500 units
SC 12 hourly).
Further management of STEMI (?myocardial infarction):
Antiplatelet therapy: aspirin + clopidogrel
Beta blocker (if no thrombolytic therapy or contraindications) as soon as possible:
atenolol 25–100 mg (o) daily
or
metoprolol 25–100 mg (o) twice daily
Consider glyceryl trinitrate IV infusion if pain recurs
Start early introduction of ACE inhibitors (within 24–48 hours) in those with significant left
ventricular (LV) dysfunction (and other indications)
Statin therapy to lower cholesterol
Treat hypokalaemia
Consider magnesium sulphate (after thrombolysis)
Consider frusemide
management acute chest pain of possible cardiac
origin
beta blockers—within 12 hours
ACE inhibitors—within 24 hours after stabilisation
aspirin 75–150 mg and clopidogrel 75 mg (o) daily or both (alternatives to clopidogrel:
ticagrelor or prasugrel)
lipid-lowering drugs (e.g. statins)
anticoagulants (for specific indications, e.g. atrial fibrillation)
Targets:
BP <140/90 (lower if tolerated); TC <4 mmol/L; LDLC <2 mmol/L; TG <2 mmol/L
Post-AMI drug management
Education and counselling
Bed rest 24–48 hours
Continuing ECG monitoring
Check serum potassium and magnesium
Early mobilisation to full activity over 7–12 days
Light diet
Sedation
Beta blocker (o): atenolol or metoprolol
Anticoagulation where indicated (certainly if evidence of thrombus with echocardiography)
ACE inhibitors for left ventricular failure and to prevent remodelling
Monitor psychological issues (e.g. anxiety)
Post-AMI drug management
ACE inhibitors (even if no CCF) Radionuclide studies (to assess left ventricular function) Beta blockers (proven value in severe infarction) if no contraindications or LV dysfunction Anticoagulation
Management of the extensive infarction
Signs: extra (third or fourth) heart sounds, X-ray changes
Treatment (according to severity) (refer to CHAPTER 76 ):
oxygen
diuretic (e.g. frusemide)
morphine IV
glyceryl trinitrate: IV, SL (o) or topical
ACE inhibitors
Treating and recognising complications of STEMI
Acute left ventricular failure
Requires early specialist intervention which may include: adrenaline—titrated to BP treat hypotension with inotropes intra-aortic balloon pump urgent angiography ± angioplasty/surgery
Treating and recognising complications of STEMI Cardiogenic shock (a major hospital management procedure)
This occurs in first few days after AMI (usually anterior AMI), with onset of sharp pain.
Signs: pericardial friction rub
Treatment: anti-inflammatory medication (e.g. aspirin, indomethacin or ibuprofen for pain)
with caution
Note: Avoid anticoagulants.
Treating and recognising complications of STEMI
Pericarditis
This occurs weeks or months later, usually around 6 weeks.
Features: pericarditis, fever, pericardial effusion (an autoimmune response)
Treatment: as for pericarditis
Treating and recognising complications of STEMI
Post-AMI syndrome (Dressler syndrome)
This is a late complication.
Clinical: cardiac failure
Features: arrhythmias, embolisation
Signs: double ventricular impulse, fourth heart sound, visible bulge on X-ray
Left ventricular aneurysm
Right ventricular infarction
This may accompany inferior MI and is life-threatening.
Ventricular septal rupture and mitral valve papillary rupture
This presents with severe cardiac failure and a loud pansystolic murmur. Both have a poor
prognosis and early surgical intervention may be appropriate.
Cardiac arrhythmias
All types are common with STEMI and require treatment according to guidelines in
CHAPTER 59 . Methods may include defibrillation, cardioversion and pacemaking. Post infarct
prophylaxis with IV lignocaine is not indicated.
5,16
Anxiety and depression
Patients require anticipatory guidance and support including education, reassurance and
counselling. If necessary, anxiolytic agents and antidepressants may help recovery.
Treating and recognising complications of STEMI
Early definitive diagnosis is necessary: best achieved by transoesophageal echocardiography.
50% of patients are hypertensive; so need pharmacological control of hypertension with IV
nitroprusside and beta blockers.
Emergency surgery needed for many, especially for type A (ascending aorta involved).
Note: Increased incidence during pregnancy.
Aortic dissection
Investigations to diagnose suspected pulmonary embolus (choose from):
6,17,18
chest X-ray and ECG
CT pulmonary angiography (first-line study)
radionucleide imaging—the ventilation/perfusion (V/Q) study
digital subtraction angiography
D-dimer assay—sensitive for ‘ruling out’ in low risk, but not specific for ‘ruling in’
Doppler sonography of lower limbs
arterial blood gases
Wells score: if >3, highly probable; if >6, diagnostic
Pulmonary embolus
Needs supportive medical care and anticoagulation:
DOACs
or
heparin IV: 5000 U as immediate bolus, continuous infusion 30 000 U over 24 hours or 12 500
U (sc) bd
or
low molecular weight heparin
Note: Thrombolytic therapy either IV or into the pulmonary artery can be used for major
embolism. Surgical embolectomy is rarely necessary but needed if very extensive.
Pulmonary embolus
Can be spontaneous (more common in COPD or asthma) or traumatic. Most episodes resolve
spontaneously without drainage.
Spontaneous pneumothoraces in a healthy adult should initially be managed conservatively
with analgesia (and oxygen if necessary) even if large.
Pneumothorax
Recent trials have shown conservative management to be superior to pleural intervention in
terms of adverse events, complications and days in hospital.
Pleural intervention with a catheter is necessary for clinical deterioration: falling BP and
oxygen saturation, rising pulse and respiratory rate.
For recurrent attacks, excision of cysts or pleurodesis may be necessary.
Statistics indicate a 30–50% recurrence rate of spontaneous pneumothorax (most within 12
months), 35% on the same side, 10–15% on the opposite side. Recurrence should not recur
after a pleurodesis where the lung surface has been rendered adherent to the chest wall
Pneumothorax
For urgent cases insert a 12–16 gauge needle into the pleural space through the second
intercostal space on the affected side. Replace with a formal intercostal catheter connected to
underwater seal drainage.
Acute tension pneumothorax
Achieve normal weight if overweight.
Avoid coffee, alcohol and spicy foods.
Avoid large meals and overeating (keep to small meals).
Use antacids or alginate compounds (e.g. Gaviscon, Mylanta Plus).
If persistent:
acid suppression—H2
-receptor blockers (e.g. ranitidine)
or
proton-pump inhibitors (e.g. omeprazole)
Reassess PPIs after 4–6 weeks; consider deprescribing long-term PPIs
Gastro-oesophageal reflux
Long-acting nitrates (e.g. isosorbide dinitrate 10 mg tds)
or
Table 30.9
Page 371
calcium-channel blockers (e.g. nifedipine CR 20–30 mg once daily)
Note: Attend to lifestyle and dietary factors, as for reflux.
Oesophageal spasm
Musculoskeletal chest pain is typically aggravated or provoked by movements such as stretching,
deep inspiration, sneezing and coughing. The pain tends to be sharp and stabbing in quality but
can have a constant aching quality.
Musculoskeletal causes of chest wall pain
Costochondritis is a common cause of anterior pain, which is generally well localised to the
costochondral junction and may also be a component of an inflammatory disorder, such as one of
the spondyloarthropathies.
Musculoskeletal causes of chest wall pain
Management is generally conservative with analgesics, gentle massage with analgesic creams
and NSAIDs if there is an inflammatory component. Other measures that can help for very
painful chest wall problems are localised injections of local anaesthetic with or without
corticosteroids (with care not to penetrate the parietal pleura) and a modified support (especially
for rib injuries) in the form of a special elasticised rib belt (called a universal rib belt) that gives
support and symptom relief while permitting adequate lung expansion
Musculoskeletal causes of chest wall pain
Disorders of the musculoskeletal system represent the most common cause of thoracic (dorsal)
back pain, especially dysfunction of the joints of the thoracic spine. Refer to CHAPTER 27 for
more detail. Probably the commonest cause is costovertebral dysfunction caused by overstress of
rib articulations with vertebrae (the costovertebral joints). This fact is clearly demonstrated with
the midline thoracic back pain following cardiac surgery when these joints are compressed
during sternotomy and splaying of the chest walls.
The back pain may be associated with simultaneous referred anterior chest pain or abdominal
pain.
Posterior chest (thoracic back) pain
Although posterior pain is invariably caused by vertebral dysfunction, there are several other
important causes, including serious bone disease (leading to compression fractures) and lifethreatening visceral and vascular causes. Refer to red flag pointers and TABLE 27.3 and
management guidelines in CHAPTER 27 .
Note:
Intervertebral disc protrusions are rare in the thoracic spine.
Rarely, a penetrating peptic ulcer can present with mid to lower thoracic back pain.
Acute thoracic back pain
All sudden acute chest pain is cardiac (and potentially fatal) until proven
otherwise.
Practice tips
Calcium antagonists can cause peripheral oedema, so be careful not to attribute
this to heart failure.
Practice tips
The pain of oesophageal spasm can be very severe and mimic myocardial
infarction.
Practice tips
Oesophageal spasm responds to glyceryl trinitrate: do not confuse with angina.
Practice tips
Infective endocarditis can cause pleuritic posterior chest pain.
Practice tips
Use antiplatelet agents indefinitely—100–300 mg aspirin daily or, if
contraindicated, clopidogrel 75 mg daily
Practice tips
n is the difficult passage of small hard stools.
Constipation
The Rome III criteria define it has
having two or more of the following, for at least 12 weeks:
infrequent passage of stools <3/week
passage of lumpy or hard stools at least 25% of time
straining >25% of time
sensation of incomplete evacuation >25% of time
use of manual manoeuvres >25% of time
sensation of anorectal obstruction/blockage >25% of time
Constipation
Constipation from infancy may be due to Hirschsprung disorder.
Constipation
Diet is the single most important factor in preventing constipation.
Constipation
Bleeding suggests cancer, haemorrhoids, diverticular disorder and inflammatory
bowel disease
Constipation
The commonest is ‘idiopathic’ constipation where there is no structural or systemic disease. This
is also referred to as ‘functional’ constipation.
Constipation
Probably the most frequent single factor causing constipation in Western society is deficiency in
dietary fibre, including fruit, green leafy vegetables and wholemeal products
Constipation
It is obvious that colonic or anorectal neoplasms must not be missed, especially in a middle-aged
or elderly person presenting with constipation or change in bowel habit. Undetected neoplasias
eventually present with bowel obstruction (complete or incomplete).
Constipation
In children it is important to detect the presence of megacolon, for example, megacolon
secondary to Hirschsprung disorder. Symptoms dating from birth suggest Hirschsprung disorder,
which occasionally may present for the first time in adult life.
Constipation
Constipation, often with faecal impaction, is a common accompaniment to paraplegia, multiple
sclerosis, cerebral palsy and autonomic neuropathy.
Constipation
Alarm symptoms Recent constipation in >40 years of age Rectal bleeding/haematochezia (fresh blood) Family history of cancer Positive FOBT
Constipation
Ensure the person is truly constipated, and not having unrealistic expectations of regularity.
Ensure that the anthraquinone group of laxatives, including ‘Ford pills’, is never used long
term because they cause melanosis coli and associated megacolon.
Be very wary of alternating constipation and diarrhoea (e.g. colon cancer).
Constipation
Rectal examination
The most important first step is to do the examination
Constipation
Prostate examination
It feels larger if the patient has a full bladder.
The normal prostate is a firm smooth rubbery bilobed structure (with a central sulcus) about 3
cm in diameter.
A craggy hard mass suggests cancer.
An enlarged smooth mass suggests benign hypertrophy.
A tender, nodular or boggy mass suggests prostatitis.
Constipation
Sigmoidoscopy—in particular, flexible sigmoidoscopy with examination of the rectosigmoid—is
important in excluding local disease; search for abnormalities such as blood, mucus or neoplasia.
The insufflation of air sometimes reproduces the pain of the irritable bowel syndrome.
It is worth noting that 60% of polyps and cancers will occur in the first 60 cm of the bowel
4 and
diverticular disorder should be evident with the flexible sigmoidoscope.
The presence of melanosis coli is an important sign—it may give a pointer to the duration of the
constipation and the consequent chronic intake (perhaps denied) of anthraquinone laxatives.
Constipation
Investigations These can be summarised as follows: Haematological: haemoglobin ESR Stools for occult blood
Constipation
Biochemistry (where suspected):
thyroid function tests
serum calcium
serum potassium
carcinoembryonic antigen (a targeted tumour marker rather than a screen)
Radiological:
CT colonography (virtual colonography)
double contrast barium enema (especially for primary colonic disease, e.g. megacolon)
bowel transit studies, using radio-opaque shapes taken orally and checking progress by
abdominal X-ray or stool collection
Constipation
Physiological tests:
Page 378
anal manometry—test anal tone
rectal sensation and compliance, using an inflatable rectal balloon
dynamic proctography, to determine disorders of defecation
rectal biopsy, to determine aganglionia
Constipation
It is best to classify idiopathic constipation into three subgroups:
1 simple constipation
2 slow transit constipation
3 normal transit constipation (irritable bowel syndrome)
Of these, the commonest is simple constipation, which is essentially related to a faulty diet and
bad habit. Avery Jones,
5 who defined the disorder, originally described it as being due to one or
more of the following causes:
faulty diet—inadequate dietary fibre
unfavourable living and working conditions
lack of exercise
travel
Constipation
Dyschezia, or lazy bowel, is the term used to describe a rectum that has become
unresponsive to faecal content, and this usually follows repeated ignoring of calls to
defecate.
Constipation
Most patients have simple constipation and require reassurance and education once an organic
cause has been excluded. Encourage modification of lifestyle. Provide psychological counselling
and biofeedback for dyssynergic problems
Constipation
Adequate exercise, especially walking, is important.
Develop good habits: answer the call to defecate as soon as possible. Develop the ‘after
breakfast habit’. Allow time for a good relaxed breakfast and then sit on the toilet. Don’t miss
meals—food stimulates motility.
Avoid codeine compounds (tablets or mixture).
Take plenty of fluids, especially water and fruit juices (e.g. prune juice).
Eat an optimal bulk diet. Eat foods that provide bulk and roughage, such as vegetables and
salads, cereals (especially wheat fibre), fresh and dried fruits, and wholemeal bread. Enough
fibre should be taken to convert stools that sink into stools that float.
Constipation
First-line therapy
7
Use a general bulking agent, e.g. psyllium or ispaghula granules 1–2 teaspoons (o) once or twice
daily, or commercial products as per suggested dose.
Constipation
Second-line therapy
Use an osmotic laxative or a fibre-based stimulant preparation, e.g. macrogol 3350 + 1–2
sachets, each dissolved in 125 mL water once daily
or
lactulose syrup 15–30 mL (o) daily until response, then 10–20 mL daily
or
dried fruits with senna leaf (Nu-Lax) 10 g nocte
or
docusate + senna (50–80 mg), 1–2 tabs nocte
Constipation
Third-line therapy
(Recheck cause.)
Magnesium sulphate 1–2 teaspoons (15 g) in water once or twice daily (if normal kidney
function)
or
as capsules (Colocap Balance) 15 caps over 15 minutes
Page 379
or
combined bulking/stimulating agent (e.g. frangula/sterculia [Normacol plus])
or
glycerin suppository (retain for 15–20 minutes)
or
sodium citrate or phosphate enema (e.g. Fleet Enema)
or
Microlax enema
Constipation
Constipation is quite common in children and is idiopathic in 95%. The most common factor is
diet. Constipation often begins after weaning or with the introduction of cow’s milk. It is rare
with breastfeeding. Low fibre intake and a family history of constipation may be associated
factors.
8 Most children develop normal bowel control by 4 years of age (excluding any physical
abnormality). It is normal to have a bowel movement every 2–3 days, providing it is of not
unusual consistency and is not painful.
Constipation in children
Constipation usually appears between 2 and 4 years of age, and up to a third of primary schoolaged children will report constipation over a 12-month period. In toddlers, the gender
distribution is equal, but by age 5, boys are more likely to get constipation than girls, with the
frequency of faecal incontinence three times higher in boys. Consider constipation in a child who
has recently recommenced bedwetting.
Constipation in children
Constipation in children is defined as having two or more of the following over the previous 2
months:
<3 bowel motions per week
>1 episode of faecal incontinence per week (previously referred to as encopresis)
large stools in rectum or palpable on abdominal examination
retentive posturing (e.g. ‘stiff as a board’ standing/lying, tip toes, crossed legs, braces against
furniture) and withholding behaviour (e.g. refuses, hides, requests nappy, denies need to go)
painful defecation
Constipation in children
Faecal incontinence, which is a consequence of chronic constipation, is the passage of stool in an
inappropriate place in children who have been toilet trained. It can present as soiling (encopresis)
Page 380
due to faecal retention with overflow of liquid faeces (spurious diarrhoea).
Constipation in children
Constipation is nearly always functional (>95%),
7
though the GP should check for any red flags
for a pathological cause (see below). The key feature in functional constipation is chronic faecal
retention leading to rectal dilatation and insensitivity to the normal defecation reflex
Constipation in children
Blood in stools Perianal disease Fever Weight loss/delayed growth Delayed meconium/thin strip-like stools Vomiting Urinary symptoms (although bedwetting fairly common) Abnormal neurological findings in legs Medications used for children with behavioural/developmental issues
Red flag pointers for organic causes in children
Constipation in children
Hirschsprung disorder:
consider if delay in passing first meconium stool and subsequent constipation
Anal fissure in infants:
consider if stool hard and associated with pain or bleeding
the mainstay of treatment is dietary manipulation
Constipation in children
Laxatives—if constipation has been brief in duration, treat for 3 months, but for chronic
constipation, treat for 6 months minimum.
Can use macrogol 3350 (Movicol), paraffin oil or lactulose.
For acute faecal impaction, high-dose laxatives can be used until liquid stools are achieved,
and then revert back to maintenance treatment. Enemas are suitable only for children with
acute severe rectal pain or distress and are rarely required.
Use a pharmaceutical preparation as a last resort to achieve regularity.
Constipation in children
First line
6
Paraffin oil (e.g. Parachoc): RCT evidence indicates suitable and better than stimulant laxative
or
osmotic laxative (e.g. lactulose): 1–3 mg/kg
1–5 years: 10 mL per day
>5 years: 15 mL per day
or
macrogol 3350 with electrolytes:
2–12 years: 1 sachet Movicol-Half in 60 mL water once daily
>12 years: 1 sachet Movicol (or 2 Movicol-Half) daily
Severe constipation/faecal impaction:
consider admission to hospital
abdominal X-ray
macrogol 3350 with electrolytes (double above doses and water)
Microlax enema
If unsuccessful, add ColonLYTELY via nasogastric tube or sodium phosphate enema (Fleet
Enema) (not <2 years)
Constipation in children
Constipation and abdominal distension from infancy
Possible anorexia and vomiting
Male to female ratio = 8:1
Rectal examination—narrow or normal rectum
Abdominal X-ray/barium enema—distended colon full of faeces to narrow rectum
Diagnosis, confirmed by full thickness biopsy, shows absence of ganglion cells
Absent rectoanal reflex on anal manometry
Congenital megacolon Hirschsprung disorder
aganglionosis
In older children and adults Mainly due to bad habit Can be caused by: chronic laxative abuse milder form of Hirschsprung disorder Chagas disease (Latin America) 2 hypothyroidism (‘cretinism’) systemic sclerosis Marked abdominal distension Rectal examination—dilate loaded rectum, lax sphincter Abdominal X-ray/barium enema—distended colon full of faeces but no narrowed segment
Acquired megacolon
Constipation is a common problem in the elderly, with a tendency for idiopathic constipation to
increase with age. In addition, the chances of organic disease increase with age, especially
colorectal cancer, so this problem requires attention in the older patient. Faecal impaction is a
special problem in the aged confined largely to bed. Constipation is often associated with
Parkinson disease, and various medications. In the elderly, an osmotic laxative such as sorbitol
or lactulose may be required for longstanding refractory constipation, but avoid stimulant and
other non-osmotic laxatives.
Constipation in the elderly
This is a difficult problem, particularly in the older person who may not be aware of the problem,
especially if they have spurious diarrhoea. Symptoms include malaise, anorexia and nausea,
confusion, headache, abdominal discomfort ± colic and bloating, a sense of inadequate
defecation and frequent amounts of small stool. Complications include spurious diarrhoea, faecal
incontinence, bowel obstruction, urinary incontinence or retention. It often follows opioid
medication. Confirm with rectal examination ± plain X-ray of abdomen. Treat with oral or
osmotic laxatives (e.g. 8 sachets of macrogol 3350 for 3 days with or without rectal
suppositories) or enema, e.g. Fleet Enema, Microlax
Faecal impaction
If manual disimpaction should be necessary, the unpleasant procedure can be rendered virtually
odourless if the products are ‘milked’ or scooped directly into a container of water. A large
plastic cover helps restrict the permeation of the smell.
Discomfort and embarrassment are reduced by this method and by adequate premedication (e.g.
IV midazolam and IV fentanyl) if large faecaliths are present.
Manual disimpaction
Commonest GIT malignancy: mainly adenocarcinoma
Second most common cause of death from cancer in Western society
Generally men over 50 years (90% of all cases)
Mortality rate about 30% in the 5 years
9 after diagnosis
Good prognosis if diagnosed while localised (5-year mortality 10%)
Two-thirds in descending colon and rectum
Colorectal cancer
Ulcerative colitis (longstanding) Familial: familial adenomatous polyposis (FAP), hereditary non-polyposis colorectal cancer Colonic adenomata Decreased dietary fibre Age >50 years
Colorectal cancer
Symptoms
Blood in the stools
Mucus discharge
Recent change in bowel habits (constipation more common than diarrhoea)
Alternating constipation with spurious diarrhoea
Bowel leakage when flatus passed
Unsatisfactory defecation (the mass is interpreted as faeces)
Abdominal pain (colicky) or discomfort (if obstructing)
Rectal discomfort
Symptoms of anaemia
Rectal examination—this is appropriate because many cancers are found in the lowest 12 cm
and most can be reached by the examining finger
Colorectal cancer
Spread
Lymphatics → epigastric and para-aortic nodes
Direct → peritoneum
Blood → portal circulation
Colorectal cancer
Investigations
FOBT: immunochemical tests (e.g. Inform and InSure) do not require dietary or medication
restriction
Colonoscopy ± biopsy
CT colonography (investigation of choice)
Serum CEA level is not useful for diagnosis but is useful for monitoring response to treatment
Sigmoidoscopy, especially flexible sigmoidoscopy
Double contrast barium enema may miss tumours and is being superseded by other imaging
Page 383
Table 31.6
Ultrasonography and CT scanning not useful in primary diagnosis; valuable in detecting
spread, especially hepatic metastases
PET-CT scanning (if available) is useful for follow-up
Consider defecography
If FOBT is positive—investigate by colonoscopy or by flexible sigmoidoscopy
Colorectal cancer
An FOBT every 2 years is now recommended for all people from 50–74 years (see guidelines in
CHAPTER 6 ). FOBT is safer, cheaper and more convenient than colonoscopy. Do not use the
CEA blood test as a screening tool.
Colonoscopy as screening is only recommended in 2% of the population, as follows:
Moderate risk (family history category 2): 2 yearly FOBT from 40–49, then colonoscopy
every five years from 50–74 years.
High risk (family history category 3): 2 yearly FOBT from 35–44, then colonoscopy every 5
years from 45–74 years.
11
In addition, flexible sigmoidoscopy and rectal biopsy for those with ulcerative colitis.
Refer to a bowel cancer specialist to plan appropriate surveillance.
Colorectal cancer
The objectives of treatment should be to exclude organic disease and then
reassure and re-educate the patient about normal bowel function.
Discourage long-term use of laxatives, suppositories and microenemas.
Practice tips
The laxatives to discourage should include anthraquinone derivatives, bisacodyl,
phenolphthalein, magnesium salts, castor oil and mineral oils.
First-line treatment of functional constipation (unresponsive to simple measures)
is a bulking agent. An osmotic laxative is good second-line therapy.
Practice tips
Bleeding with constipation indicates associated organic illness—exclude bowel
cancer. Bright red blood usually means haemorrhoids.
Beware of hypokalaemia causing constipation in the older person on diuretic
treatment.
If cancer can be felt on rectal examination, an abdominal perineal procedure with
colostomy usually follows; if not, an anterior resection is generally the rule.
Practice tips
Upper respiratory tract infection Lower respiratory tract infection: viral some bacteria (e.g. mycoplasma) Inhaled irritants: smoke, dust, fumes Drugs Inhaled foreign body Bronchial neoplasm Pleurisy Interstitial lung disorders: fibrosing alveolitis extrinsic allergic alveolitis pneumoconiosis sarcoidosis
Non-productive (dry cough)
Chronic bronchitis Bronchiectasis Pneumonia (especially bacterial) Asthma Foreign body (later response) Bronchial carcinoma (dry or loose) Lung abscess Tuberculosis (when cavitating)
Productive cough
Cough is the commonest manifestation of lower respiratory tract infection
Key facts and checkpoints
Cough is the cardinal feature of chronic bronchitis.
Key facts and checkpoints
Cough may persist for many weeks following an acute upper respiratory tract
infection (URTI) as a result of persisting bronchial inflammation and increased
airway responsiveness.
Key facts and checkpoints
Postnasal drip is a common cause of a persistent or chronic cough, especially
causing nocturnal cough due to secretions (mainly from chronic sinusitis) tracking
down the larynx and trachea during sleep.
Key facts and checkpoints
The commonest causes of haemoptysis are URTI (24%), acute or chronic
bronchitis (17%), bronchiectasis (13%), TB (10%). Unknown causes totalled 22%
Key facts and checkpoints
The most common cause of cough is an acute respiratory infection, whether a URTI or acute
bronchitis.
3 Persistent coughing with a URTI is usually due to the development of sinusitis with
a postnasal drip.
Chronic bronchitis is also a common cause of cough.
Probability diagnosis
Bronchial carcinoma must not be overlooked. A worsening cough is the commonest presenting
problem. A bovine cough is suggestive of cancer: the explosive nature of a normal cough is lost
when laryngeal paralysis is present, usually resulting from bronchial carcinoma infiltrating the
left recurrent laryngeal nerve.
chronic cough
Chronic postnasal drip* Asthma* Asthma + postnasal drip Postinfective bronchial hyper-responsiveness Gastro-oesophageal reflux:* symptomatic asymptomatic Chronic bronchitis Chronic heart failure Drugs (e.g. ACE inhibitors, beta blockers, salazopyrin) Snoring and obstructive sleep apnoea Irritants: occupational and household Smoker’s cough Whooping cough (pertussis) Habit Functional Idiopathic
chronic cough
Abnormal chest X-ray Bronchiectasis Cancer: bronchial, larynx Cardiac failure COPD Cystic fibrosis Inhaled foreign body Interstitial lung disorders (e.g. sarcoidosis) Tuberculosis
chronic cough
Age >50 years Smoking history Asbestos exposure history Persistent cough Overseas travel
Red flag pointers for cough
TB exposure Haemoptysis Unexplained weight loss Dyspnoea Fever
Red flag pointers for cough
→ laryngeal disorders (e.g. laryngitis)
Barking
Croupy (with stridor) →
laryngeal disorders (e.g. laryngitis, croup)
Weak cough →
indicates bronchial carcinoma
Paroxysmal with whoops →
whooping cough
Dry chronic →
GORD, drugs (e.g. ACEI)
asthma left ventricular failure postnasal drip chronic bronchitis whooping cough
Nocturnal cough →
bronchiectasis, asthma
chronic bronchitis
GORD
habitual
Waking cough →
Changing posture →
bronchiectasis
lung abscess
cough
Meals →
hiatus hernia (possible)
oesophageal diverticulum
tracheo-oesophageal fistula
cough
Wheezing → asthma Breathlessness → asthma left ventricular failure COPD
cough
A healthy, non-smoking individual produces approximately 100–150 mL of mucus a day. This
normal bronchial secretion is swept up the airways towards the trachea by the mucociliary
clearance mechanism and is usually swallowed. The removal from the trachea is assisted also by
occasional coughing, although this is carried out almost subconsciously
Sputum
Excess mucus is expectorated as sputum. The commonest cause of excess mucus production is
cigarette smoking. Mucoid sputum is clear and white.
Sputum
Clear white (mucoid) → normal or uninfected bronchitis
Character of sputum
Yellow or green (purulent) → due to cellular material (neutrophils or eosinophil granulocytes)
± infection (not necessarily bacterial infection)
asthma due to eosinophils
bronchiectasis (copious quantities)
Character of sputum
Rusty → lobar pneumonia (S. pneumoniae): due to blood
Character of sputum
Redcurrant jelly → bronchial carcinoma
Character of sputum
Profuse and offensive → bronchiectasis; lung abscess
Character of sputum
Pink frothy sputum → pulmonary oedema
Character of sputum
Bloodstained sputum (haemoptysis), which varies from small flecks of blood to massive
bleeding, requires thorough investigation. Always consider malignancy or TB. Often the
diagnosis can be made by chest X-ray.
Haemoptysis
Probability diagnosis Acute chest infection: URTI (24%) bronchitis Chronic bronchitis Trauma: chest contusion, prolonged coughing Cause often unknown (22%)
Haemoptysis (adults): diagnostic
strategy model
Chronic bronchitis: mucoid or purulent; rarely exceeds 250 mL per day
6
Bronchiectasis: purulent sputum; up to 500 mL/day
Asthma: mucoid or purulent; tenacious sputum
Lung abscess: purulent and foul-smelling
Foreign body: can follow impaction
Productive cough
Toddler/preschool Foreign body inhalation Asthma Viral induced wheeze Bronchiolitis/bronchitis Whooping cough Cystic fibrosis Croup
Cough in children
Older children Asthma Acute or chronic bronchitis Chronic rhinitis Smoke exposure Atypical pneumonia
Cough in children
asthma recurrent viral bronchitis acute URTIs allergic rhinitis croup
Common causes of cough generally are:
If asthma is suspected, a therapeutic trial of salbutamol 200 mcg 4 hourly via a spacer may be
worthwhile.
cough in children
Characteristic harsh barking inspiratory cough with stridor Prodrome of URTI for 2 days Sounds like a dog barking or a seal Children 6 months to 6 years Fever variable (rarely >39°) Usually 11 pm to 2 am Auscultation confirms inspiratory stridor Occurs in small local epidemics
Croup (laryngotracheobronchitis)
Clinical features
Tachypnoea, expiratory grunt
Possible focal chest signs
Diagnosis often only made by chest X-ray
Pathogens
Viruses are the most common cause in infants.
Mycoplasma is common in children over 5 years.
S. pneumoniae is a cause in all age groups.
Pneumonia in children
Minimal handling
Careful observations including pulse oximetry
Attend to hydration
Antibiotics indicated in all cases, even though many are viral. Refer to Therapeutic Guidelines
for various age groups, tropical regions and specific confirmed bacterial species. A simplified
overview follows:
Mild to moderate:
amoxicillin 25 mg/kg up to 1 g orally, 8 hourly for 3 days (mild) or 5–7 days (moderate)
plus (if atypical bacteria suspected)
azithromycin or clarithromycin or doxycycline
Severe:
10
cefotaxime IV or ceftriaxone IV (if staphylococcus aureus suspected, add clindamycin or
lincomycin)
Pneumonia in children
Minimal handling
Careful observations including pulse oximetry
Attend to hydration
Antibiotics indicated in all cases, even though many are viral. Refer to Therapeutic Guidelines
for various age groups, tropical regions and specific confirmed bacterial species. A simplified
overview follows:
Mild to moderate:
amoxicillin 25 mg/kg up to 1 g orally, 8 hourly for 3 days (mild) or 5–7 days (moderate)
plus (if atypical bacteria suspected)
azithromycin or clarithromycin or doxycycline
Severe:
10
cefotaxime IV or ceftriaxone IV (if staphylococcus aureus suspected, add clindamycin or
lincomycin)
Pneumonia in children
Infants: RR > 70 Intermittent apnoea Not feeding Older children: RR > 50 Grunting Signs of dehydration
Pneumonia in children
guidelines for hospitalisation
SaO2 ≤92%
Cyanosis
Difficulty breathing
Family/social issues
Pneumonia in children
guidelines for hospitalisation
Important causes of cough to consider in the elderly include chronic bronchitis, lung cancer,
pulmonary infarct (check calves), bronchiectasis and left ventricular failure, in addition to the
acute upper and lower respiratory infections to which they are prone. It is important to be
surveillant for bronchial carcinoma in an older person presenting with cough, bearing in mind
that the incidence rises with age. One study found the causes of chronic cough in the elderly to
be postnasal drip syndrome 48%, gastro-oesophageal reflux 20% and asthma 17%
Cough in the elderly
Respiratory infections, especially those of the upper respiratory tract, are usually regarded as
trivial, but they account for an estimated one-fifth of all time lost from work and three-fifths of
time lost from school, and are thus of great importance to the community.
13 The majority of
respiratory infections are viral in origin and antibiotics are therefore not indicated.
URTIs are those involving the nasal airways to the larynx, while lower respiratory tract
infections (LRTIs) affect the trachea downwards.
Combined URTIs and LRTIs include influenza, measles, whooping cough and
laryngotracheobronchitis
Common respiratory infections
This highly infectious URTI, which is often mistakenly referred to as ‘the flu’, produces a mild
systemic upset and prominent nasal symptoms
The common cold (acute coryza)
24–48 hours of weakness Malaise and tiredness Sore, runny nose Sneezing Sore throat Slight fever Other possible symptoms: headache hoarseness cough
The common cold (acute coryza)
Advice to the patient includes:
rest—adequate sleep and rest, especially if weak
Table 32.6
Page 392
drink adequate fluids
stop smoking (if applicable)
analgesics—paracetamol (acetaminophen) or aspirin (max. 8 tablets a day in adults)
steam inhalations for a blocked nose
cough drops or syrup for a dry cough
gargle aspirin in water or lemon juice for a sore throat (avoid aspirin in children <16 years)
vitamin C powder or tablets (e.g. 2 g daily) does not reduce the risk of catching an URTI, but
regular usage may possibly reduce duration—but only if used prophylactically before the
URTI
14
clinical trials of zinc lozenges and echinacea have been unpromising
The common cold (acute coryza)
Commonly due to influenza A or influenza B viruses, influenza causes a relatively debilitating
illness and should not be confused with the common cold.
Influenza
fever >38°C plus at least one respiratory symptom and one systemic symptom cough (dry) sore throat coryza prostration or weakness myalgia headache rigors or chills
Influenza
Complications Page 393 Tracheitis, bronchitis, bronchiolitis Secondary bacterial infection Pneumonia due to Staphylococcus aureus (mortality up to 20%) 1 Toxic cardiomyopathy with sudden death (rare) Encephalomyelitis (rare) Depression (a common sequela)
Influenza
Diagnosis
Nasopharyingeal swabs for PCR or other rapid specific tests
Influenza
Advice to the patient includes:
rest in bed until the fever subsides and patient feels better
analgesics: paracetamol and aspirin or ibuprofen are effective, especially for fever
fluids: maintain high fluid intake (water and fruit juice)
freshly squeezed lemon juice and honey preparation
Influenza
Antiviral agents
5
Neuraminidase inhibitors (cover influenza A and B):
zanamivir (Relenza) 10 mg by inhalation bd for 5 days
oseltamivir (Tamiflu) 75 mg (o) bd (child 2 mg/kg) for 5 days
Both should be commenced within 36 hours of onset and given for 5 days.
Note: These antiviral agents have questionable benefit in a low-risk population, but treatment for
vulnerable patients during an epidemic may be appropriate.
Influenza
Prevention
Influenza vaccination for influenza A and B (recommended annually) offers some protection for
up to 70% of the population for about 12 months
Influenza
Known for the past severe influenza syndromes MERS-CoV and SARS, it has emerged as
COVID-19. This respiratory illness has had more worldwide impact than any other in the 21st
century, in terms of both individual morbidity and mortality, and the subsequent socioeconomic
effects. Prevention of the spread of this coronavirus is via public health measures (handwashing,
social distancing, personal protective equipment) and a number of novel vaccines. At the time of
writing there is no effective treatment specific to SARS-CoV-2, although various supportive
interventions including medications can reduce the severity for hospitalised patients. Prevention
through population vaccination is being addressed.
Coronavirus respiratory infections
This is acute inflammation of the tracheobronchial tree that usually follows an upper respiratory
infection. Although generally mild and self-limiting, it may be serious in debilitated patients.
Acute bronchitis
Clinical features Features of acute infectious bronchitis are: cough and sputum (main symptoms) wheeze and dyspnoea usually viral infection can complicate chronic bronchitis—often due to Haemophilus influenzae and Streptococcus pneumoniae scattered wheeze on auscultation fever or haemoptysis (uncommon)
Acute bronchitis
It improves spontaneously in 4–8 days in healthy patients
Acute bronchitis
Treatment
5
Symptomatic treatment
Inhaled bronchodilators for airflow limitation
Distinguish acute bronchitis from bacterial pneumonia and bacterial infective exacerbations of
COPD, where antibiotics are useful
Acute bronchitis
This is a chronic productive cough for at least 3 successive months in 2 successive years:
wheeze, progressive dyspnoea
recurrent exacerbations with acute bronchitis
occurs mainly in smokers
Chronic bronchitis
This is inflammation of lung tissue. It usually presents as an acute illness with cough, fever and
purulent sputum plus physical signs and X-ray changes of consolidation. It can be broadly
classified as typical or atypical, which are caused by different bacteria, viruses or other
organisms.
Pneumonia
The initial presentation of pneumonia can be misleading, especially when the patient presents
with constitutional symptoms (fever, malaise and headache) rather than respiratory symptoms. A
cough, although usually present, can be relatively insignificant in the total clinical picture. This
diagnostic problem applies particularly to atypical pneumonia but can occur with bacterial
pneumonia, especially lobar pneumonia.
Pneumonia
occurs in people who are not or have not been in hospital recently, and who are not
institutionalised or immunocompromised, i.e. the majority of people in general practice. The
choice of antibiotic is initially empirical. CAP is usually caused by a single organism, especially
Streptococcus pneumoniae, which is demonstrating increasing antibiotic resistance.
10 Treatment
is usually for 5–10 days for most bacterial causes, 2 weeks for Mycoplasma or Chlamydia
infection and 2–3 weeks for Legionella. Viruses are often present in CAP (25–44%), whether as
a sole cause or as a predecessor to bacteria
Community-acquired pneumonia
Typical pneumonia
The commonest community-acquired infections are Streptococcus pneumoniae (majority),
Haemophilus influenzae
10
(mainly in COPD), M. pneumoniae (young adults) and Klebsiella
pneumoniae.
Community-acquired pneumonia
Rapidly ill with high temperature, dry cough, pleuritic pain, rigors or night sweats
1–2 days later may be rusty-coloured sputum
Rapid and shallow breathing follows
Examination: focal chest signs, consolidation
Investigations: CXR, sputum M&C, oxygen saturation, specific tests/serology, PCR
Complications: pleural effusion, empyema, lung abscess, respiratory failure
A particular complication of influenza is a streptococcus pneumoniae infection 2–4 weeks
later
Community-acquired pneumonia
Clinical features
Fever without chills, malaise
Headache
Minimal respiratory symptoms, non-productive cough
Signs of consolidation absent
Chest X-ray (diffuse infiltration) worse than chest signs
The atypical pneumonias
Causes Virus, e.g. influenza Mycoplasma pneumoniae—the commonest: adolescents and young adults treat with: roxithromycin 300 mg (o) daily or doxycycline 100 mg bd for 14 days Legionella pneumophila (legionnaire disease):
The atypical pneumonias
Diagnostic criteria include:
prodromal influenza-like illness
a dry cough, confusion or diarrhoea
very high fever (may be relative bradycardia)
lymphopaenia with moderate leucocytosis
hyponatraemia
Patients can become prostrate with complications. Treat with:
azithromycin IV (first line) or erythromycin (IV or oral)
plus (if very severe)
ciprofloxacin or rifampicin
Chlamydia pneumoniae:
similar to Mycoplasma
Chlamydia psittaci (psittacosis):
treat with doxycycline, roxithromycin or erythromycin
Coxiella burnetti (Q fever):
treat with doxycycline 200 mg (o) statim, then 100 mg daily for 14 days
The atypical pneumonias
This does not require hospitalisation.
Amoxicillin 1 g 8 hourly for 5–7 days
plus (if atypical pneumonia suspected, or suboptimal improvement in 2 days)
doxycycline 100 mg bd for 5–7 days
Mild pneumonia
This requires hospitalisation (see Guidelines box for severe pneumonia and hospital admission).
Monitor with CXR; oximeter (keep O2 saturation ≥94%).
Neonates
Age over 65 years
Coexisting illness
High temperature: >38°C
Clinical features of severe pneumonia
Involvement of more than one lobe
Inability to tolerate oral therapy
benzylpenicillin 1.2 g IV 4–6 hourly for 7 days (switch to oral amoxicillin when improved)
or
procaine penicillin 1.5 g IM daily (drugs of choice for S. pneumoniae) plus doxycycline
or
ceftriaxone 1 g IV daily for 7 days (in penicillin-allergic patient)
Moderately severe pneumonia
The criteria for severity (with increased risk of death) are presented in the box on Guidelines for
severe pneumonia and hospital admission.
11,17 The CORB score indicates severity (Confusion,
Hypoxia pO2<90%, Respiratory rate ≥30/min, BP <90/60 mmHg, Age ≥65).
19
cefotaxime 1 g IV 8 hourly
or
ceftriaxone 1 g IV daily
Severe pneumonia
plus
azithromycin 500 mg IV daily (covers Mycoplasma, Chlamydia and Legionella)
add
flucloxacillin for Staphylococcus aureus
Severe pneumonia
Altered mental state/acute onset confusion Rapidly deteriorating course Respiratory rate >30 per minute Pulse rate >100 per minute BP <90/60 mmHg CORB ≥2 Hypoxia PaO2 <60 mmHg or O2 saturation <92% Leucocytes <4 × 10 8L or >20 × 10 9 /L Multilobular involvement on CXR
Guidelines for severe pneumonia and hospital admission in
adults: the red flags
A cough associated with a viral respiratory infection should last no more than 2 weeks. If it does,
it is termed persistent. A cough lasting 2 months or more is defined as a chronic cough. A cough
that lasts longer than 3–4 weeks requires scrutiny. TABLE 32.3 includes some causes of chronic
cough.
Chronic persistent cough
A chronic cough can be divided into productive and non-productive. The presence of purulent
sputum increases the probability of a bacterial infection in the bronchi and/or sinuses.
4 The main
organisms are Haemophilus influenzae (the most common), S. pneumoniae and Moraxella. Such
infections are most susceptible to amoxicillin or amoxicillin/clavulanate or parenteral
cephalosporins.
Chronic persistent cough
Some of the many causes of a non-productive cough are included in TABLE 32.1 and more than
one may be operative simultaneously; for example, an allergic snorer with oesophageal reflux
taking an ACE inhibitor for hypertension may have a viral respiratory infection.
4
It has been
shown that a non-productive or irritating cough is usually caused by persistent stimulation of
irritant receptors in the trachea and major bronchi, and may result in the production of small
amounts of mucoid sputum
Non-productive cough
Investigations to be considered in intractable chronic cough include a chest X-ray, spirometry,
CT scan of the thorax (searching in particular for a tumour) and ambulatory oesophageal pH
monitoring
Non-productive cough
Gastro-oesophageal reflux
This common condition can cause a persistent, non-productive cough in an apparently well
person with a history of reflux. In the absence of evidence of aspiration, the cough is considered
to be due to stimulation of a distal oesophageal-tracheobronchial reflex. Other studies have
established a relationship between bronchial asthma and reflux or swallowing disorders whereby
microaspiration can initiate an inflammatory response in the airways.
Non-productive cough
If reflux is proven or suspected, there is good evidence for diet and weight loss (if achieved)
improving the cough, but unfortunately no trial evidence supporting PPIs when used in isolation
for GORD-related cough.
20 However, it is reasonable to trial a PPI for 8–12 weeks, along with
dietary advice.
Non-productive cough
Lung cancer accounts for 25% of cancer deaths in men and 24% of cancer deaths in women
(rapidly rising), with cigarette smoking being the most common cause of lung cancer in both
sexes.
13
It is also the most common lethal cancer in both sexes in Australia. Bronchial carcinoma
accounts for over 95% of primary lung malignancies. The prognosis is poor—the 5-year overall
survival is 17%.
21 The mesothelioma incidence continues to rise.
Bronchial carcinoma
Clinical features
Most present between 50 and 70 years (mean 67 years)
Nearly all (>90%) are already symptomatic at the time of diagnosis
Bronchial carcinoma
Local symptoms Cough (early) (42%) Chest pain (22%) Wheeze (15%) Haemoptysis (7%) Dyspnoea (5%)
Bronchial carcinoma
General Anorexia, malaise Weight loss—unexplained Others Unresolved chest infection Hoarseness Symptoms from metastases
Bronchial carcinoma
Chest X-ray Sputum cytology CT scanning Fibre-optic bronchoscopy PET scanning Fluorescence bronchoscopy (helps early detection)
Bronchial carcinoma
There is no current recommendation to screen asymptomatic people for lung cancer by any
modality, including CXR or low-dose CT chest
Bronchial carcinoma
Common Bronchial carcinoma Secondary tumour Solitary metastasis Granuloma (e.g. TB) Hamartoma Less common Bronchial adenoma Foreign body AVM Hydatid Others (e.g. haematoma, cyst, carotid tumour)
Causes of a solitary pulmonary nodule
on X-ray
Refer to a respiratory physician to determine the type of cancer. They are usually classified as
small cell lung (oat cell) poorly differentiated cancer (about 15% incidence) (SCLC) and nonsmall cell lung cancer (NSCLC), which includes squamous cell carcinoma, adenocarcinoma and
large cell carcinoma (approximately 20–30% of each). The main aim of management is a
curative resection of NSCLC in those who can benefit from it. Surgery is not an option for SCLC
since it metastasises so rapidly (80% have metastasised at the time of diagnosis).
11
Chemotherapy is suitable for the deadly SCLC but currently only extends life expectancy by a
few months.
25 Chemotherapy has an important place in treating NSCLC. The main role of
radiotherapy is palliative.
bronchial carcinoma
is a malignant tumour of mesothelial cells usually at the pleura. It is associated
with prior asbestos exposure, possibly decades earlier (90% report exposure).
Mesothelioma
Clinical features include chest pain, dyspnoea, weight loss and recurrent pleural effusions.
Diagnosis is based on imaging and on histology after pleural biopsy. Prognosis is poor and
treatment is palliative support.
Mesothelioma
is dilatation of the bronchi when their walls become inflamed, thickened and
irreversibly damaged, usually after obstruction followed by infection. Predisposing causes
include whooping cough, measles, TB, inhaled foreign body (e.g. peanuts in children), bronchial
carcinoma, cystic fibrosis and congenital ciliary dysfunction (Kartagener syndrome). Suspect
immune deficiency in these patients. The left lower lobe and lingula are the commonest sites for
localised disease. In children, early intervention saves bronchi; refer urgently if suspected.
Bronchiectasis
Chronic loose cough—worse on waking Mild cases: yellow or green sputum only after infection Advanced: profuse purulent offensive sputum persistent halitosis recurrent febrile episodes malaise, weight loss Episodes of pneumonia Sputum production related to posture Haemoptysis (bloodstained sputum or massive) possible
Bronchiectasis
Examination
Clubbing
Coarse sounds over infected areas (usually lung base)
Bronchiectasis
Investigations
Chest X-ray (normal or bronchial changes)
Sputum examination: for resistant pathogens and to exclude TB
Page 398
Cytology: to rule out neoplasia
Main pathogens: Haemophilus influenzae (commonest), Streptococcus pneumoniae,
Pseudomonas aeruginosa, Staphylococcus aureus
CT scan: can show bronchial wall thickening—high-resolution CT scan is the gold standard
for diagnosis
Spirometry
Bronchograms: very unpleasant and used only if diagnosis in doubt or possible localised
disease amenable to surgery (rare)
Bronchiectasis
Explanation and preventive advice. Avoid URTIs, smoking and smoke-filled rooms.
Physiotherapy and exercise program.
Postural drainage (e.g. lie over side of bed with head and thorax down for 10–20 minutes three
times a day).
Antibiotics for acute exacerbations (increased cough and sputum volume/purulence) according
to organism—it is important to eradicate infection to halt the progress of the disease.
Amoxicillin 500 mg (o) tds for 14 days or doxycycline 200 mg (o) daily (if child ≥8 years) is
recommended for first presentation. Long-term antibiotic therapy should be guided by
respiratory specialists.
Bronchodilators, if evidence of bronchospasm
Bronchiectasis
Regardless of whether the underlying cause of the cough is being treated or has no treatment
(e.g. viral URTI), the symptom of coughing can be distressing at all ages, and GPs are frequently
asked to discuss symptomatic relief. Frustratingly, all the many over-the-counter cough remedies
have either scant or no evidence for efficacy. These include antihistamines, decongestants,
expectorants (e.g. senega with ammonia) and suppressants such as codeine. Cough medicines are
generally not recommended in children.
Symptomatic treatment of cough
Inhaled asthma medications (LABAs, corticosteroids or MART therapy) only work if there is
underlying hyper-responsiveness. Honey has some evidence, particularly in children, and is safe
and easily available. Offer advice around environmental triggers—smoke, dust, pollen, cold air
Symptomatic treatment of cough
Unexplained cough over the age of 50 is bronchial carcinoma until proved
otherwise (especially if there is a history of smoking).
Practice tips
Consider TB in the presence of an unusual cough ± wheezing
Practice tips
Bronchoscopy is essential to exclude adequately a suspicion of bronchial
carcinoma when the chest X-ray is normal.
Practice tips
Bright red haemoptysis in a young person may be the initial symptom of
pulmonary TB.
Practice tips
Avoid settling for a diagnosis of bronchitis as an explanation of haemoptysis until
bronchial carcinoma has been excluded.
Practice tips
Coughing may be so severe that it terminates in vomiting or loss of consciousness
(post-tussive syncope).
Practice tips
Large haemoptyses are usually due to bronchiectasis or TB.
The presence of white cells in the sputum renders it yellow or green (purulent) but
does not necessarily imply infection.
Practice tips
Deafness occurs at all ages but is more common in the elderly (see FIG. 33.1 ).
Fifty per cent of people over 80 years have deafness severe enough to be helped
by a hearing aid.
Deafness and hearing loss
The threshold of normal hearing is from 0–20 decibels (dB), about the loudness of a
soft whisper
Deafness and hearing loss
60 dB is the level of normal conversation or a sewing machine.
Deafness and hearing loss
One in seven of the adult population suffers from some degree of significant hearing impairment (over 20 dB in the better-hearing ear)
Deafness and hearing loss
One child in every 1000 is born with a significant hearing loss. The earlier it is
detected and treated, the better.
Deafness and hearing loss
Degrees of hearing impairment with vocal equivalent:
2,3
mild = loss of hearing at 20–40 dB (soft-spoken voice is 20 dB)
moderate = loss at 40–60 dB (normal voice)
severe = loss at 70–90 dB (loud spoken voice)
Deafness and hearing loss
More women than men have a hearing loss.
People who have worked with high noise levels (>85 dB) are more than twice as
likely to be deaf.
There is a related incidence of tinnitus with deafness.
Deafness and hearing loss
Conductive hearing loss is caused by an abnormality in the pathway conducting sound waves
from the outer ear to the inner ear,
1 as far as the footplate of the stapes.
Deafness and hearing loss
Sensorineural hearing loss (SNHL) is a defect central to the oval window involving the cochlea
(sensor), cochlear nerve (neural) or, more rarely, central neural pathways.
1 Mixed hearing loss
occurs most commonly with severe head injury or chronic infection.
Deafness and hearing loss
Congenital deafness is an important consideration in children, while presbycusis is very common
in the aged. The commonest acquired causes of deafness are impacted cerumen (wax), serous
otitis media and otitis externa. Noise-induced deafness is also common.
Deafness and hearing loss
It is important not to misdiagnose an acoustic neuroma, which can present as acute deafness,
although slow progressive loss is more typical. A summary of the diagnostic strategy model,
which includes several important causes of deafness
Deafness and hearing loss
Known ototoxic drugs Alcohol Aminoglycosides: amikacin gentamicin kanamycin neomycin streptomycin tobramycin Diuretics: ethacrynic acid frusemide Chemotherapeutic agents Quinine and related drugs Salicylates/aspirin excess
Deafness and hearing loss
Red flags
Unilateral sensorineural hearing loss
Cranial nerve abnormalities (other than hearing loss)
Deafness and hearing loss
Patients with conductive loss may hear better in noisy conditions (paracusis) because we raise
our voices when there is background noise. Conversely, people with sensorineural deafness
(SND) usually have more difficulty hearing in noise as voices become unintelligible.
Deafness and hearing loss
Inspect the facial structures, skull and ears. The ears are inspected with an otoscope to visualise
the external meatus, the tympanic membrane (TM) and the presence of obstructions such as wax,
inflammation or osteomata.
Deafness and hearing loss
The examination requires a clean external auditory canal. Gentle suction is useful for cleaning
pus debris. Syringing is reserved for wax in people with an intact TM and a known healthy
middle ear.
Deafness and hearing loss
It is an advantage to have a pneumatic attachment to test drum mobility. Reduction of TM
mobility is an important sign in secretory otitis media.
There are several simple hearing tests. The distance at which a ticking watch can be heard can be
used but the advent of the digital watch has affected this traditional method.
Deafness and hearing loss
Whisper test
Occlude far ear. Have the patient cover near eye with one hand to prevent lip reading. Place your
mouth at the near side. Strongly whisper ‘68’ then ‘100’ from a distance of 50 cm. Ask the
patient to repeat the words. If not heard, repeat using a normal speaking voice.
Deafness and hearing loss
Hair-rubbing method
Page 403
In children and in adults with a reasonable amount of hair, grab several hairs close to the external
auditory canal between the thumb and index finger. Rub the hairs lightly together at 5 cm (high
sensitivity) to produce a relatively high-pitched ‘crackling’ sound (see FIG. 33.3 ). If this sound
cannot be heard, a moderate hearing loss is likely (usually about 40 dB or greater). Like the
whisper test, this test is a rough guide only.
Deafness and hearing loss
Tuning fork tests
If deafness is present, its type (conduction or sensorineural) should be determined by tuning fork
testing. The most suitable tuning fork for preliminary testing is the C2
(512 cps) fork. The fork is
best activated by striking it firmly on the bent elbow.
Deafness and hearing loss
Weber test
The vibrating tuning fork is applied firmly to the midpoint of the skull or to the central forehead
or to the teeth.
This test is of value only if the deafness is unilateral or bilateral and unequal (see FIG. 33.4 ).
Normally the sound is heard equally in both ears in the centre of the forehead. With
sensorineural deafness the sound is heard in the normal ear, while with conduction deafness it is
heard better in the abnormal ear.
Deafness and hearing loss
Lateralisation of the sound to one ear indicates a conductive loss on that side, or a sensorineural
loss on the other side.
Deafness and hearing loss
Rinne test
The tuning fork (512 or 256 Hz) is held:
outside the ear (tests air conduction) and
firmly against the mastoid bone (tests bone conduction)
Ask which is louder
Deafness and hearing loss
Audiometric assessment includes the following: pure tone audiometry impedance tympanometry electric response audiometry oto-acoustic emission testing
Deafness and hearing loss
Pure tone audiometry
4,5
Pure tone audiometry is a graph of frequency expressed in hertz versus loudness expressed in
decibels. The tone is presented either through the ear canal (a test of the conduction and the
cochlear function of the ear) or through the bone (a test of cochlear function).
Deafness and hearing loss
The difference between the two is a measure of conductance. If the two ears have different
thresholds, a white noise masking sound is applied to the better ear to prevent it hearing sound
presented to the test ear. The normal speech range occurs between 0 and 20 dB in soundproof
conditions across the frequency spectrum.
Deafness and hearing loss
Tympanometry
Tympanometry measures the mobility of the tympanic membrane, the dynamics of the ossicular
chain and the middle-ear air cushion. The test consists of a sound applied at the external auditory
meatus, otherwise sealed by the soft probe tip.
Deafness and hearing loss
Imaging
CT and gadolinium-enhanced MRI can identify retrocochlear pathology such as acoustic
neuroma and cochlear nerve agenesis
Deafness and hearing loss
Deafness in childhood is relatively common and often goes unrecognised. One to two of every
1000 newborn infants suffer from sensorineural deafness.
1 Congenital deafness may be due to
inherited defects, to prenatal factors such as maternal intra-uterine infection or drug ingestion
during pregnancy, or to perinatal factors such as birth trauma, and haemolytic disease of the
newborn.
Deafness in children
Deafness may be associated with Down syndrome and Waardenburg syndrome. Waardenburg
syndrome, which is dominantly inherited, is diagnosed in a person with a white forelock of hair
and different coloured eyes.
Deafness in children
Acquired deafness accounts for approximately half of all childhood cases. Purulent otitis media
and secretory otitis media are common causes of temporary conductive deafness. However, one
in 10 children will have persistent middle-ear effusions and mild to moderate hearing loss in the
15–40 dB range.
6
Permanent deafness in the first few years of life may be due to virus infections, such as mumps
or meningitis, ototoxic antibiotics and several other causes.
Deafness in children
Screening should begin at birth so that language input can allow optimal language development.
The aim of screening should be to recognise every deaf child by the age of 8 months to 1 year—
before the vital time for learning speech is wasted. High-risk groups should be identified and
screened; for example, a family history of deafness, maternal problems of pregnancy, perinatal
problems, survivors of intensive care, very low birthweight and gestation <33 weeks, cerebral
palsy and those with delayed or faulty speech.
Deafness in children
1 month Should notice sudden constant sounds (e.g. car motor, vacuum
cleaner) by pausing and listening.
Deafness in children
3 months Should respond to loud noise (e.g. will stop crying when hands are
clapped).
Deafness in children
4 months Should turn head to look for source of sound, such as mother
Deafness in children
7 months Should turn instantly to voices or even to quiet noises made across the
room.
Deafness in children
10 months Should listen out for familiar everyday sounds.
Deafness in children
12 months Should show some response to familiar words and commands,
including his or her name.
Deafness in children
Optimal screening times:
8–9 months (or earlier)
school entry
Newborn hearing screening measures the 8th cranial nerves’ responses to sound, and is widely
available and encouraged in Australia. Screening has improved the average age of detection of
deafness from 20 months in 1989 to 0.8 months in 2014
Deafness in children
A high index of suspicion is essential in detecting hearing loss in children and any parental
concern should be taken seriously. The presentation of hearing loss will depend on whether it is
bilateral or unilateral, its severity and age of onset.
Deafness in children
Typical presentations include:
malformation of skull, ears or face
failure to respond in an expected way to sounds, especially one’s voice
preference for, or response only to, loud sounds
no response to normal conversation or to television
speech abnormality or delay
absence of ‘babbling’ by 12 months
no single words or comprehension of simple words by 18 months
learning problems at school
disobedience
other behavioural problems
Deafness in children
Screening methods
Hearing can be tested at any age. No child is too young to be tested and this includes the
newborn. Informal office assessments, such as whispering in the child’s ear or rattling car keys,
are totally inadequate for excluding deafness and may be potentially harmful if they lead to false
reassurance.
Pneumatic otoscopy is essential to exclude middle-ear effusions
Deafness in children
Pure tone audiometry is unreliable in children under 4 years of age, so special techniques such as
tympanometry are required. Tympanometry assesses TM compliance, and is highly sensitive and
specific for detecting middle-ear pathology in children beyond early infancy.
Neonates and infants can be tested using Automated Auditory Brainstem Response (AABR) or
Transient Evoked Otoacoustic Emissions (TEOAE).
Deafness in children
Children with middle-ear pathology and hearing loss should be referred to a specialist. All
children with sensorineural hearing loss (even those with profound deafness), as well as children
with conductive losses not correctable by surgery, benefit from amplification. All children need
referral to a specialist centre skilled in educational and language remediation.
Deafness in children
The prevalence of hearing loss increases exponentially with age. The commonest reason for
bilateral progressive sensorineural deafness is presbycusis, which is the high-frequency hearing
loss of advancing age (see FIG. 33.8 ). There appears to be a genetic predisposition to
presbycusis.
8
Deafness in the elderly
Presbycusis
Presbycusis is sensorineural hearing loss related to deterioration of hearing with ageing. Some
features include:
loss of high-frequency sounds
usually associated with tinnitus
intolerance to very loud sounds
difficulty picking up high-frequency consonants, e.g. ‘f’, ‘s’—these sounds are often distorted
or unheard, and there is confusion with words such as ‘fit’ and ‘sit’, ‘fun’ and ‘sun
Deafness in the elderly
Deafness is associated with various types of mental illness in the aged, including anxiety,
depression, paranoid delusions, agitation and confusion because of sensory deprivation. The
possibility of deafness should be kept in mind when assessing these problems
Deafness in the elderly
Signs indicating referral for hearing test
Possible indications for referring the older person:
speaking too loudly
difficulty understanding speech
social withdrawal
lack of interest in attending parties and other functions
Deafness in the elderly
complaints about people mumbling
requests to have speech repeated
complaints of tinnitus
setting television and radio on high volume
Deafness in the elderly
Sudden deafness refers to a sudden sensorineural hearing loss threshold of greater than 30–35 dB
with an onset period of between 12 hours and 3 days.
9
It specifically excludes gradual
progressive causes of sensorineural deafness, such as cumulative noise trauma or presbycusis,
and also excludes causes of sudden deafness that may be related to pathology in the external
auditory canal, TM or middle ear.
Sudden deafness
Causes of sudden deafness Trauma: head injury/blunt head trauma diving flying acoustic blast Postoperative: previous stapedectomy Viral infections (e.g. mumps, measles, herpes zoster) Ototoxic drugs (e.g. aminoglycosides, gentamicin) Cerebellopontine angle tumours (e.g. acoustic neuroma) Vascular disease: polycythaemia diabetes stroke, especially cerebellar vasculitis Ménière syndrome Cochlear otosclerosis
Sudden deafness
In several instances, despite a careful clinical examination and investigation, an explanation for
sudden sensorineural deafness cannot be found and it is considered to be idiopathic, which
Page 407
accounts for most cases. The cause of deafness in these cases is thought to be either vascular
obstruction of the end artery system or viral cochleitis.
8,10 Fortunately, spontaneous recovery
usually results.
Sudden deafness
Patients with sudden sensorineural deafness require immediate referral. It is a difficult problem
both in diagnosis and management. Early diagnosis and a high index of suspicion are
fundamental.
8 Two important conditions that deserve special reference are perilymphatic fistula,
which occurs after stapedectomy, and an acoustic neuroma presumably causing compression of
the internal auditory artery by the tumour in the internal auditory meatus.
Investigations: FBE, ESR, ANCA; TB ELISpot; viral titres; evoked response audiometry; MRI
Sudden deafness
is a disease of the bone surrounding the inner ear and is the most common cause of
conductive hearing loss in the adult with a normal tympanic membrane. The normal middle-ear
bone is replaced by vascular, spongy bone that becomes sclerotic
Otosclerosis
Usually: a progressive disease develops in the 20s and 30s family history (autosomal dominant) bilateral or unilateral female preponderance affects the footplate of the stapes may progress rapidly during pregnancy conductive hearing loss begins in lower frequencies, then progresses impedance audiometry shows characteristic features of conductive loss with a mild sensorineural loss may be associated with Ménière syndrome
Otosclerosis
Referral to an ENT specialist
Stapedectomy (approximately 90% effective)
Hearing aid (less effective alternative)
Otosclerosis
is a sac of keratinising squamous epithelium that arises from a perforation
involving the periphery of the TM. In other words, it is a ‘big sac of skin’ (refer to
CHAPTER 39 ). It is dangerous to the ear because it tends to expand and destroy adjacent
structures, including the TM, ossicular chain and cochlear. Destruction of the first two may result
in conductive hearing loss of up to 60 dB. Irreversible sensorineural deafness caused by otic
capsule erosion may also occur. Surgical correction is mandatory
Cholesteatoma
Ear wax impaction occurs in about 5% of the normal population but is more prevalent in older
people especially with the use of hearing aids. It is also common in those who use cotton buds
(which should be avoided), where cerumen is packed onto the TM leading to a conductive
hearing loss. The average wax production is 2.81 mg/week. Most ear wax clears spontaneously
without treatment.
Wax impaction
Methods of removal include: gentle syringing with warm (body temperature) water by trained practitioner (avoid syringing if infection or perforated TM) consider cerumenolytic drops for several days before syringing carbamide peroxide (Ear Clear) docusate sodium (Waxsol) hydrogen peroxide sodium bicarbonate drops oil based (e.g. olive oil, almond oil)
Wax impaction
Keratosis obturans is an accumulation of keratin to form a pearly-white plug that requires
removal.
Wax impaction
Clinical features
Table 33.6
Onset of tinnitus after work in excessive noise
Speech seems muffled soon after work
Temporary loss initially but becomes permanent if noise exposure continues
High-frequency loss on audiogram
Sounds exceeding 85 dB are potentially injurious to the cochlea, especially with prolonged
exposures. Common sources of injurious noise are industrial machinery, weapons and loud
music.
Noise-induced hearing loss
s is defined as a sound perceived by the ear that arises from an internal source. When
pathology in the inner ear is the cause, the tinnitus is non-pulsating, continuous and may have
variable frequencies and intensity.
Tinnitus
A thorough history and examination should be conducted so that tinnitus can be classified as
objective (e.g. heard with stethoscope) or non-objective, and pulsatile or non-pulsatile.
Tinnitus
Precautions:
exclude wax, drugs including marijuana, NSAIDs, salicylates, quinine and aminoglycosides,
9
vascular disease, depression, anaemia, aneurysm, vascular tumours (e.g. glomus tumour),
venous hum (jugular vein), acoustic neuroma (progressive and unilateral), Ménière syndrome
and infections (e.g. viral cochleitis)
if pulsatile, consider carotid artery lesions, including a caroticocavernous fistula and an AV
fistula
beware of lonely elderly people living alone (suicide risk)
Note: Otosclerosis in young adults causes deafness and tinnitus.
Tinnitus
Investigations
Audiological examination by audiologist
Tympanometry and speech discrimination
MRI or CT scan (if serious cause suspected or head injury)
Tinnitus
Management
Treat any underlying cause and aggravating factors. Otherwise, minimise symptoms.
Educate and reassure the patient (tinnitus is nearly always amenable to treatment).
Encourage a patient support group.
Tinnitus
Medical
Clonazepam 0.5 mg nocte (with care)
Minerals (e.g. zinc and magnesium)
Betahistine (Serc) 8–16 mg daily (max. 32 mg)
Carbamazepine or sodium valproate
Antidepressants if depressed
Note: All of the above treatments have unsupportive Cochrane reviews.
Tinnitus
Acute severe tinnitus
Lignocaine 1% IV slowly (up to 5 mL)
Tinnitus
are most useful in conductive deafness. This is due to the relative lack of distortion,
making amplification simple. In sensorineural deafness, the dual problem of recruitment and the
hearing loss for higher frequencies may make hearing aids less satisfactory. Technology is
Page 409
rapidly advancing, and modern aids selectively amplify higher frequencies and ‘cut out’
excessive volume peaks that would cause discomfort. A trial of such aids should be made by a
reliable hearing-aid consultant following full medical assessment
Hearing aids
The cochlear implant or ‘bionic ear’ is used in adults and children with severe hearing loss
unresponsive to powerful hearing aids. The implant consists of an array of 22 electrodes inserted
into the cochlea following mastoidectomy, attached to a receiver implanted in the skull next to
the ear. External sounds are detected by an external processor worn behind the ear and connected
to the implanted receiver with an external induction coil. Near normal speech and hearing may
be achieved in children with congenital or acquired deafness with early implantation. The device
is most suitable for children over 2 years and adults with severe deafness.
Cochlear implants
Asymmetrical sensorineural hearing loss Cranial nerve defects (other than hearing loss) Ear canal or middle-ear mass Deep ear pain Discharging ear
Red flags for priority referral
Sudden deafness.
Any child with suspected deafness, including poor speech and learning problems, should be
referred to an audiology centre.
Any child with middle-ear pathology and hearing loss should be referred to a specialist.
Unexplained deafness
When to refer
A mother who believes her child may be deaf is rarely wrong.
Suspect deafness in an infant with delayed development and in children with
speech defects or behavioural problems.
Audiological assessment should be performed on children born to mothers with
evidence of intra-uterine infection by any of the TORCH organisms
(toxoplasmosis, rubella, cytomegalovirus and herpes virus).
Practice tips
No child is too young for audiological assessment. Informal office tests are
inadequate for excluding hearing loss.
Sounds tend to be softer in conductive hearing loss and distorted with
sensorineural loss.
People with conductive deafness tend to speak softly, hear better in a noisy
environment, hear well on the telephone and have good speech discrimination.
People with sensorineural deafness tend to speak loudly, hear poorly in a noisy
environment, have poor speech discrimination and hear poorly on the telephone.
Practice tips
The characteristics of the stool provide a useful guide to the site of the bowel
disorder.
Diarrhoea
Disorders of the upper GIT tend to produce diarrhoea stools that are copious,
watery or fatty, pale yellow or green.
Diarrhoea
Colonic disorder tends to produce stools that are small, of variable consistency,
brown and may contain blood or mucus.
Diarrhoea
Acute gastroenteritis should be regarded as a diagnosis of exclusion.
diarrhoea
Asking about a history of travel, especially to countries at risk of endemic bowel
infections, is essential.
diarrhoea
Certain antibiotics can cause an overgrowth of Clostridium difficile, which produces
pseudomembranous colitis
diarrhoea
Coeliac disease, although a cause of failure to thrive in children, can present at any
age.
diarrhoea
In disorders of the colon, the patient experiences frequency and urgency but
passes only small amounts of faeces.
diarrhoea
Diarrhoea can be classified broadly into four types: acute watery diarrhoea bloody diarrhoea (acute or chronic) chronic watery diarrhoea steatorrhoea
diarrhoea
Common causes are:
gastroenteritis/enteritis:
bacterial: Salmonella sp., Campylobacter jejuni, Shigella sp., enteropathic Escherichia coli,
Staphylococcus aureus (food poisoning)
Acute diarrhoea
viral: rotavirus (50% of child hospital admissions),
1 norovirus, astrovirus, adenovirus
dietary indiscretions (e.g. binge eating)
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antibiotic reactions
Acute diarrhoea
Unexpected weight loss Persistent/unresolved Blood in stool Fever Overseas travel Severe abdominal pain Family history: bowel cancer, Crohn disease
Red flag pointers for diarrhoea
Irritable bowel syndrome was the commonest cause of chronic diarrhoea in a UK study.
1
Drug reactions are also important. These include ingestion of laxatives, osmotic agents such as
lactose and sorbitol in chewing gum, alcohol, antibiotics, thyroxine and others.
Chronic diarrhoea
Acute gastroenteritis that persists into a chronic phase is relatively common, especially in
travellers returning from overseas. Important considerations are Giardia lamblia, C. difficile,
Yersinia, Entamoeba histolytica, Cryptosporidium and HIV infection.
Chronic diarrhoea
Serious disorders not to be missed
Colorectal carcinoma must be considered with persistent diarrhoea, especially if of insidious
onset.
Chronic diarrhoea
In children, coeliac disease and cystic fibrosis can present as chronic diarrhoea, while
intussusception, although not causing true diarrhoea, can present as loose, redcurrant jelly-like
stools and should not be misdiagnosed (as gastroenteritis). Appendicitis must also be considered
in the onset of acute diarrhoea and vomiting.
Chronic diarrhoea
Infection with enterohaemorrhagic strains of E. coli (e.g. O157:H7, O111:H8) may lead to the
haemolytic uraemic syndrome or thrombotic thrombocytopenic purpura, particularly in children.
Chronic diarrhoea
What appears to be simple enteritis can eventuate to be fatal. If suspected, avoid giving
antibiotics.
Clue: Think of it with atypical gastroenteritis and bloody diarrhoea. Avoid antibiotics.
Chronic diarrhoea
Not considering acute appendicitis in acute diarrhoea—can be retrocaecal or pelvic
appendicitis
diarrhoea
Missing faecal impaction with spurious diarrhoea
Failing to perform a rectal examination
Failing to consider acute ischaemic colitis in an elderly patient with the acute onset of bloody
diarrhoea stools (following sudden abdominal pain in preceding 24 hours)
diarrhoea
This potentially fatal colitis can be caused by the use of any antibiotic, especially clindamycin,
Page 413
lincomycin, ampicillin and the cephalosporins (an exception is vancomycin). It is usually due to
an overgrowth of C. difficile, which produces a toxin that causes specific inflammatory lesions,
sometimes with a pseudomembrane. It may occur, uncommonly, without antibiotic usage.
Pseudomembranous colitis (antibiotic-associated diarrhoea)
Clinical features
Profuse, watery diarrhoea
Abdominal cramping and tenesmus ± fever
Within 2 days of taking antibiotic (can start up to 4 to 6 weeks after usage)
Persists 2 weeks (up to 6) after ceasing antibiotic
Diagnosed by characteristic lesions on sigmoidoscopy and a tissue culture assay and/or PCR for
C. difficile toxin.
Pseudomembranous colitis (antibiotic-associated diarrhoea)
Treatment
2
Cease antibiotic
Hygiene measures to prevent spread
Mild to moderate: metronidazole 400 mg (o) tds for 10 days
Severe: vancomycin 125 mg (o) qid for 10 days
Consult with specialist. Beware of toxic megacolon.
Pseudomembranous colitis (antibiotic-associated diarrhoea)
Psychogenic considerations
Anxiety and stress can cause looseness of the bowel. The irritable bowel syndrome, which is a
very common condition, may reflect underlying psychological factors and most patients find that
the symptoms are exacerbated by stress. Look for evidence of depression.
In children, chronic diarrhoea can occur with the so-called ‘maternal deprivation syndrome’,
characterised by growth and developmental retardation due to adverse psychosocial factors
diarrhoea
Toxins from: Staphylococcus aureus Salmonella sp. Clostridium perfringens Clostridium difficile Vibrio parahaemolyticus Aeromonas hydrophilia Bacillus cereus
Food poisoning
Viral Bacterial, e.g. Campylobacter jejuni Escherichia coli Shigella sp. Salmonella sp.
Infective
gastroenteritis
Short—within 24 hours
Average—12 hours
S. aureus—2–4 hours
Incubation period (onset from contact)
Diarrhoea Watery
Toxins from: Staphylococcus aureus Salmonella sp. Clostridium perfringens Clostridium difficile Vibrio parahaemolyticus Aeromonas hydrophilia Bacillus cereus
Diarrhoea ±
blood
Viral Bacterial, e.g. Campylobacter jejuni Escherichia coli Shigella sp. Salmonella sp
Chicken
Meat
Seafood
Rice
Toxins from: Staphylococcus aureus Salmonella sp. Clostridium perfringens Clostridium difficile Vibrio parahaemolyticus Aeromonas hydrophilia Bacillus cereus
Milk
Water
Chicken
Viral Bacterial, e.g. Campylobacter jejuni Escherichia coli Shigella sp. Salmonella sp.
Abdominal pain
Central colicky abdominal pain indicates involvement of the small bowel, while lower
abdominal pain points to the large bowel.
diarrhoea
Nature of stools
If small volume, consider inflammation or carcinoma of colon; if large volume, consider laxative
abuse and malabsorption.
diarrhoea
If there is profuse bright red bleeding, consider diverticulitis or carcinoma of colon, and if small
amounts with mucus or mucopus, consider inflammatory bowel disorder. The presence of blood
in the stools excludes functional bowel disorder. Diarrhoea at night suggests organic disease. In
steatorrhoea the stools are distinctively pale, greasy, offensive, floating and difficult to flush. It is
exacerbated by fatty foods.
diarrhoea
‘Rice water’ stool is characteristic of cholera and ‘pea soup’ stool of typhoid fever.
diarrhoea
The extent of the examination depends on the nature of the presenting problem. If it is acute,
profuse and associated with vomiting, especially in a child, the examination needs to be general
to assess the effects of fluid, electrolyte and nutritional loss. An infant’s life is in danger from
severe gastroenteritis and this assessment is a priority. The general nutritional and electrolyte
assessment is also relevant in chronic diarrhoea with malabsorption, and this includes looking for
evidence of muscle weakness (e.g. hypokalaemia, hypomagnesaemia, tetany [hypocalcaemia],
bruising [vitamin K loss]).
diarrhoea
Ideally the stool should be examined. The consistency of the stool as an aid to diagnosis
2,4
is
summarised in TABLE 34.5 , the features of the stool in TABLE 34.6 and the characteristics
that distinguish between small and large bowel diarrhoea
1 are presented in TABLE 34.7 . Note
the presence of blood, mucus or steatorrhoea.
diarrhoea
Liquid and uniform Small bowel disorder (e.g. gastroenteritis)
diarrhoea
Loose with bits of faeces Colonic disorder
diarrhoea
Watery, offensive, bubbly Giardia lamblia infection
diarrhoea
Liquid or semiformed, mucus ± blood Entamoeba histolytica
diarrhoea
Bulky, pale, offensive Malabsorption
diarrhoea
Pellets or ribbons Irritable bowel syndrome
diarrhoea
China clay Obstructive jaundice
Stool features as an aid to diagnosis
Black stool Melaena (blood) in faeces
Stool features as an aid to diagnosis
Pea soup Typhoid fever
Stool features as an aid to diagnosis
Rabbit stones Irritable bowel syndrome
Stool features as an aid to diagnosis
Redcurrant jelly Intussusception
Stool features as an aid to diagnosis
Rice water Cholera
Stool features as an aid to diagnosis
Silver stool Carcinoma of ampulla of Vater
Stool features as an aid to diagnosis
Toothpaste Hirschsprung disease
Stool features as an aid to diagnosis
Consider: inflammatory bowel disease, colonic polyps, carcinoma, infective especially Shigella,
Salmonella, Campylobacter, E. coli, amoebiasis, colitis (pseudomembranous, ischaemic).
Bloody diarrhoea
Stool tests:
microscopy for parasites and red and white cells (warm specimen for amoebiasis)
cultures: routine for Salmonella sp., Shigella sp., E. coli and possibly Campylobacter; may
need special requests for Campylobacter sp., C. difficile and toxin, listeria, Yersinia sp.,
Cryptosporidium sp., Aeromonas sp. (stools must be collected fresh on three occasions)
Bloody diarrhoea
Blood tests (especially chronic diarrhoea): haemoglobin; MCV, WCC, ESR, iron, ferritin,
folate, vitamin B12, calcium, electrolytes, thyroid function, HIV tests
Specific tests for organisms
Antibody tests, total IgA (e.g. IgA transglutaminase for coeliac disease); PCR tests (where
applicable)
Bloody diarrhoea
Haemagglutination tests for amoebiasis C. difficile tissue culture assay Malabsorption studies Stool elastase for pancreatic insufficiency Endoscopy: proctosigmoidoscopy flexible sigmoidoscopy/colonoscopy (with biopsy) small bowel biopsy (coeliac disease)
Bloody diarrhoea
Radiology: Page 417 plain X-ray abdomen—of limited value small bowel enema barium enema, especially double contrast
Bloody diarrhoea
Complications of diarrhoea Fluid loss with dehydration, electrolyte loss (Na \+ , K+ , Mg \+ , Cl -) Vascular collapse Hypokalaemia
Bloody diarrhoea
However, in Australia most infective cases are viral. The basic principle therefore is to achieve
and maintain adequate hydration until the illness resolves. In adults and children, oral
rehydration is indicated unless there is evidence of impending circulatory ‘shock’ demanding
intravenous therapy. Oral rehydration solution containing sodium, potassium and glucose should
be considered for patients with mild to moderate dehydration. Adults should drink 2 to 3 L of the
solution in 24 hours. Normal food intake may start after rehydration.
Principles of treatment Bloody diarrhoea
However, in Australia most infective cases are viral. The basic principle therefore is to achieve
and maintain adequate hydration until the illness resolves. In adults and children, oral
rehydration is indicated unless there is evidence of impending circulatory ‘shock’ demanding
intravenous therapy. Oral rehydration solution containing sodium, potassium and glucose should
be considered for patients with mild to moderate dehydration. Adults should drink 2 to 3 L of the
solution in 24 hours. Normal food intake may start after rehydration.
Principles of treatment Bloody diarrhoea
In general, treatment should not be directed specifically at altering the frequency and consistency
of the stools. The antimotility drugs (loperamide, diphenoxylate and codeine) have a role
restricted to short-term control of symptoms in adults during periods of significant social
inconvenience, such as travel. It must be emphasised that antimotility drugs should be used with
caution, especially for C. difficile, Salmonella and Shigella, and are never indicated for
management of acute diarrhoea in infants and children
Principles of treatment Bloody diarrhoea
Specific antibiotics are reserved for the treatment of giardiasis, amoebiasis, antibiotic-associated
diarrhoea, cholera and typhoid. Although antibiotics are usually unnecessary, they may be
indicated for severe cases of Campylobacter enteritis, Salmonella enteritis, shigellosis and
traveller’s diarrhoea. Lactobacillus has been shown to reduce the duration of diarrhoea in
rotavirus-related enteritis and antibiotic-associated diarrhoea
Principles of treatment Bloody diarrhoea
DxT acute diarrhoea + colicky abdominal pain ± vomiting →
gastroenteritis
DxT (young adult) diarrhoea ± blood and mucus + abdominal cramps →
inflammatory bowel disease (UC/Crohn)
DxT as above + constitutional symptoms ± eyes/joints →
Crohn
disease
DxT pale bulky offensive stools, difficult to flush, weight loss →
malabsorption
DxT fatigue + weight loss + iron deficiency →
coeliac disease
DxT failure to thrive (child) + recurrent chest infections →
→ cystic
fibrosis
DxT altered bowel habit: diarrhoea ± constipation ± rectal bleeding ±
abdominal discomfort →
colorectal carcinoma
DxT diarrhoea (fluid/incontinent) + constipation + abdominal discomfort + anorexia/nausea →
faecal impaction
DxT profuse watery diarrhoea + abdominal cramps and increasing
distension (on antibiotics) →
→ pseudomembranous colitis (Girotra’s
triad)
DxT variable diarrhoea/constipation + abdominal discomfort + mucus
PR + flatulence →
irritable bowel syndrome
It is important to distinguish the steatorrhoea of various malabsorption syndromes from
diarrhoea
Malabsorption
Primary mucosal disorders Gluten-sensitive enteropathy (coeliac disease) Tropical sprue Lactose intolerance (lactase deficiency) Crohn disease (regional enteritis) Whipple disease Parasite infections (e.g. Giardia lamblia) Lymphoma
Malabsorption
The common causes are coeliac disease, chronic pancreatitis and postgastrectomy.
Malabsorption
Clinical features
Bulky, pale, offensive, frothy, greasy stools
Stools difficult to flush down toilet
Weight loss
Prominent abdomen
Failure to thrive (in infants)
Increased faecal fat
Signs of multiple vitamin deficiencies (e.g. A, D, E, K)
Sore tongue (glossitis)
Hypochromic or megaloblastic anaemia (possible)
malabsorption
Refer for specific investigations (e.g. FBE, barium studies, small bowel biopsy, faecal fat
[>21 g/3 days]).
malabsorption
Synonyms: coeliac sprue, gluten-sensitive enteropathy.
Coeliac disease
Note: It can appear at any age; refer to coeliac disease in children (see later in chapter).
Page 418
It is widely underdiagnosed because most patients present with non-GIT symptoms, such as
tiredness.
There is a genetic factor in this autoimmune disorder with a 1 in 10 chance if a first-degree
relative is affected. Consider screening under 2 years if there is such an association
Coeliac disease
It is widely underdiagnosed because most patients present with non-GIT symptoms, such as
tiredness.
There is a genetic factor in this autoimmune disorder with a 1 in 10 chance if a first-degree
relative is affected. Consider screening under 2 years if there is such an association.
Coeliac disease
Clinical features Classic tetrad: diarrhoea, weight loss, iron/folate deficiency, abdominal bloating Malaise, lethargy Flatulence Mouth ulceration Diarrhoea with constipation (alternating) Pale and thin patient No subcutaneous fat
Coeliac disease
Diagnosis
Elevated faecal fat
Characteristic duodenal biopsy: villous atrophy (key test)
Total IgA level
IgA transglutaminase antibodies (>90% sensitivity and specificity)
Deamidated gliadin peptide (DGP-IgG) also highly sensitive and specific
Coeliac disease
Associations Iron-deficiency anaemia Malignancy, especially lymphoma, GIT Type 1 diabetes Pernicious anaemia Primary biliary cirrhosis Subfertility Dermatitis herpetiformis
Coeliac disease
IgA deficiency Autoimmune thyroid disease Osteoporosis Neurological (e.g. seizures, ataxia, peripheral neuropathy) Down syndrome
Coeliac disease
Management
Diet control: high complex carbohydrate and protein, low fat, lifelong gluten-free (no wheat,
barley, rye and oats)
Treat specific vitamin and mineral deficiencies
Give pneumococcal vaccination (increased risk of pneumococcus sepsis)
Coeliac support group and Coeliac Australia
Coeliac disease
Gluten-free diet
Avoid foods containing gluten either as an obvious component (e.g. flour, bread, oatmeal) or as a
hidden ingredient (e.g. dessert mix, stock cube).
Forbidden foods include:
standard bread, pasta, crispbreads, flour
standard biscuits and cakes
breakfast cereals made with wheat or oats
oatmeal, wheat bran, barley/barley water
‘battered’ or breadcrumbed fish, etc.
meat and fruit pies
most stock cubes and gravy mixes
Coeliac disease
This is a rare malabsorption disorder usually affecting white males. It is caused by the bacillus
Tropheryma whipplei. It may involve the heart, lungs and CNS. It is fatal if missed.
Whipple disease
Clinical features Page 419 Males >40 years Chronic diarrhoea (steatorrhoea) Arthralgia (migratory seronegative arthropathy mainly of peripheral joints) Weight loss Lymphadenopathy ± Fever
Whipple disease
Diagnoses PCR for T. whipplei Jejunal biopsy—stunted villi Treatment IV ceftriaxone for 2 weeks then cotrimoxazole or tetracycline for up to 12 months. This produces a dramatic improvement.
Whipple disease
The older the person, the more likely a late onset of symptoms that reflect serious underlying
organic disease, especially malignancy. Colorectal cancer needs special consideration. Frail or
bedridden people have an increasing likelihood with age of faecal impaction with spurious
diarrhoea. The possibility of drug interactions (e.g. digoxin) and ischaemic colitis should also be
considered.
Diarrhoea in the elderly
This is due to atheromatous occlusion of mesenteric vessels (low blood flow) (see
CHAPTER 24 ).
Clinical features
Clinical features include:
sharp abdominal pain in an elderly person with bloody diarrhoea (low blood flow)
or
periumbilical pain and diarrhoea about 15–30 minutes after eating
may be bruits over central abdomen
other evidence of generalised atherosclerosis
barium enema shows ‘thumb printing’ sign due to submucosal oedema
Ischaemic colitis
The commonest cause of diarrhoea in children is acute infective gastroenteritis, followed by
antibiotic-induced diarrhoea. However, certain conditions that develop in infancy and childhood
require special attention. The presentation of small amounts of redcurrant jelly-like stool with
intussusception should be kept in mind. Of the many causes, only a few could be considered
common.
Diarrhoea in children
Important causes of diarrhoea in children are:
infective gastroenteritis
antibiotics
overfeeding (loose stools in newborn)
dietary indiscretions
toddler’s diarrhoea
sugar (carbohydrate) intolerance
food allergies (e.g. milk, soy bean, wheat, eggs)
maternal deprivation
malabsorption states: cystic fibrosis, coeliac disease
Diarrhoea in children
Note: Exclude surgical emergencies (e.g. acute appendicitis), infections (e.g. pneumonia),
septicaemia, otitis media <5 years.
Diarrhoea in children
Note: Dehydration from gastroenteritis is an important cause of death, particularly in obese
infants (especially if vomiting accompanies the diarrhoea).
Acute gastroenteritis
Definition
It is an illness of acute onset of less than 10 days’ duration, associated with fever, diarrhoea
and/or vomiting, where there is no other evident cause for the symptoms.
Acute gastroenteritis
Mainly rotavirus (developed countries) and adenovirus: viruses account for about 80%
Bacterial: C. jejuni and Salmonella sp. (two commonest), E. coli and Shigella sp.
Protozoal: G. lamblia, E. histolytica, Cryptosporidium
Food poisoning—staphylococcal toxin
Differential diagnoses. These include septicaemia, urinary tract infection, intussusception,
appendicitis, pelvic abscess, partial bowel obstruction, type 1 diabetes and antibiotic reaction
Acute gastroenteritis
Bowel infection: viruses bacteria protozoal food poisoning—staphylococcal toxin Systemic infection Abdominal disorders: appendicitis pelvic abscess intussusception malrotation Urinary tract infection Antibiotic reaction Diabetes
Differential diagnosis of acute
diarrhoea and vomiting in children
Diarrhoea, anorexia, nausea, poor feeding, vomiting, fever (vomiting and fever may be absent)
Fluid stools (often watery) 10–20 per day
Crying—due to pain, hunger, thirst or nausea
Bleeding—uncommon (usually bacterial)
Acute gastroenteritis
Viral indication: large volume, watery, typically lasts 2–3 days, systemic symptoms uncommon.
Bacterial indication: small motions, blood, mucus, abdominal pain and tenesmus.
Acute gastroenteritis
Complications:
febrile convulsions
sugar (lactose) intolerance (common)
septicaemia, especially Salmonella
Acute gastroenteritis
Management
Management is based on the assessment and correction of fluid and electrolyte loss.
5,6 Since
dehydration is usually isotonic with equivalent loss of fluid and electrolytes, serum electrolytes
will be normal.
Note: The most accurate way to monitor dehydration is to weigh the child, preferably without
clothes, on the same scale each time. However, the easiest is clinical assessment (e.g. vomiting,
no urine, lethargy and thirst). Perform faecal microbiological testing for routine pathogens if
there are features of severe disease.
Acute gastroenteritis
Commercially available oral rehydration solutions (ORS) must have levels of glucose and
sodium/potassium salts that meet WHO standards. Most brand names end in ‘-lyte’. They come
either as sachets that must be reconstituted with a specific volume of water, or ready-made
liquids, including frozen ice sticks. ‘Sports drinks’ are not designed for this purpose. One trial in
mildly dehydrated children >2 years old showed that dilute apple juice was better tolerated and
resulted in less treatment failure than ORS.
7
If acute invasive or persistent Salmonella are present, give antibiotics (ciprofloxacin or
azithromycin).
Acute gastroenteritis
Avoid
Drugs: antidiarrhoeals, anti-emetics and antibiotics
Full-strength lemonade or similar sugary soft drink: osmotic load too high, can use if diluted 1
part to 4 parts water but sugar may be poorly tolerated
Acute gastroenteritis
To treat or not to treat at home
Treat at home—if family can cope, vomiting is not a problem and no dehydration.
Admit to hospital—if dehydration or persisting vomiting or family cannot cope; also infants
<6 months and high-risk patients
Acute gastroenteritis
Advice to parents (for mild-to-moderate diarrhoea)
If applicable, remove child from day care or school and keep away from food preparation areas.
Advise about hygiene, including handwashing and napkin disposal. If children are not vomiting,
encourage eating and drinking as tolerated.
Acute gastroenteritis
General rules
6,8
Give small amounts of fluids often
Return to an age-appropriate diet as soon as possible after rehydration
Start solids after 24 hours
Continue breastfeeding (should be increased in frequency, e.g. hourly)
or
Continue formula feeding if tolerated or resume it after 24 hours
Consider stool culture and test for rotavirus for symptoms that persist and worsen
Acute gastroenteritis
Day 1
Give fluids, a little at a time and often (e.g. 5 mL every 1–2 minutes by spoon or syringe or
50 mL every 15 minutes if vomiting a lot). A good method is to give 200 mL (about 1 cup) of
fluid every time a watery stool is passed or a big vomit occurs.
Use ORS if tolerated, or alternatives such as diluted apple juice if the child prefers.
Warning: Do not use straight lemonade or mix up powders with lemonade or fluids other than
water
Acute gastroenteritis
Method of assessing fluid requirements:
3
Fluid loss (mL) = % dehydration × body weight (kg) × 10
Maintenance (mL/kg/24 h): 1–3 mo: 120 mL; 4–12 mo: 100 mL; >12 mo: 80 mL
Allow for continuing loss.
Example: 8 month 10 kg child with 5% dehydration:
Fluid loss = 5 × 10 × 10 = 500 mL
Maintenance = 100 × 10 = 1000 mL
Total 24-hour requirement (min.) = 1500 mL
Approximate average hourly requirement = 60 mL
Aim to give more (replace fluid loss) in the first 6 hours.
Rule of thumb: give 100 mL/kg (infants) and 50 mL/kg (older children) in first 6 hours.
Acute gastroenteritis
Days 2 and 3
Reintroduce your baby’s milk or formula diluted to half strength (i.e. mix equal quantities of
milk or formula and water). Their normal food can be continued but do not worry that your child
is not eating food. Solids can be commenced after 24 hours. Best to start with bread, plain
biscuits, jelly, stewed apple, rice, porridge or non-fat potato chips. Avoid fatty foods, fried foods,
raw vegetables and fruit, and wholegrain bread.
Acute gastroenteritis
Day 4
Increase milk to normal strength and gradually continue reintroduction to usual diet.
Breastfeeding. If your baby is not vomiting, continue breastfeeding but offer extra fluids
(preferably ORS) between feeds. If vomiting is a problem, express breast milk for the time being
while you follow the oral fluid program.
Note: Watch for lactose intolerance as a sequela—explosive diarrhoea after introducing formula.
Replace with a lactose-free formula
Acute gastroenteritis
Synonyms: carbohydrate intolerance, lactose intolerance.
The commonest offending sugar is lactose.
Diarrhoea often follows acute gastroenteritis when milk is reintroduced into the diet (some
recommend waiting for 2 weeks). Stools may be watery, frothy, smell like vinegar and tend to
excoriate the buttocks. They contain sugar. Exclude giardiasis.
Chronic diarrhoea in children
Sugar intolerance
A simple test follows.
Line the napkin with thin plastic and collect fluid stool.
Mix 5 drops of liquid stool with 10 drops of water and add a Clinitest tablet (detects lactose
and glucose but not sucrose).
A positive result suggests sugar intolerance.
Diagnosis: lactose breath hydrogen test
Chronic diarrhoea in children
Sugar intolerance
Treatment
Remove the offending sugar from the diet.
Use milk preparations in which the lactose has been split to glucose and galactose by enzymes,
or use soy protein.
Note: Most milk allergies improve with age
Chronic diarrhoea in children
Sugar intolerance
A clinical syndrome of loose, bulky, non-offensive stools with fragments of undigested food in a
well, thriving child. The onset is usually between 8 and 20 months. Associated with high fructose
intake (fruit juice diarrhoea).
Diagnosis by exclusion; treatment by dietary adjustment.
Toddler’s diarrhoea (‘cradle crap’)
This is not as common as lactose intolerance. Diarrhoea is related to taking a cow’s milk formula
and relieved when it is withdrawn.
Cow’s milk protein intolerance
This is not as common as lactose intolerance. Diarrhoea is related to taking a cow’s milk formula
and relieved when it is withdrawn.
Allergic responses to cow’s milk protein may result in a rapid or delayed onset of symptoms.
Delayed onset may be more difficult to diagnose, presenting with diarrhoea, malabsorption or
failure to thrive.
It is diagnosed by unequivocal reproducible reactions to elimination and challenge. If diagnosed,
remove cow’s milk from the diet and replace with either soy milk or a hydrolysed or an
elemental formula
Cow’s milk protein intolerance
These disorders, which include Crohn disease and ulcerative colitis, can occur in childhood. A
high index of suspicion is necessary to make an early diagnosis. Approximately 5% of cases of
chronic ulcerative colitis have their onset in childhood.
Inflammatory bowel disorders
Responsible organisms include Salmonella sp., Campylobacter, Yersinia, G. lamblia and E.
histolytica. With persistent diarrhoea, it is important to obtain microscopy of faeces and aerobic
and anaerobic stool cultures. G. lamblia infestation is not an uncommon finding and may be
associated with malabsorption, especially of carbohydrate and fat. Giardiasis can mimic coeliac
disease.
Chronic enteric infection
Clinical features in childhood: usually presents at 9–18 months, but any age previously thriving infant anorexia, lethargy, irritability failure to thrive malabsorption—abdominal distension offensive frequent stools Diagnosis: duodenal biopsy (definitive). Treatment: remove gluten from diet.
Coeliac disease
Cystic fibrosis, which presents in infancy, is the commonest of all inherited disorders (1 per 2500
live births)
Cystic fibrosis
Features
Invariably a self-limiting problem (1–3 days)
Abdominal cramps
Possible constitutional symptoms (e.g. fever, malaise, nausea, vomiting)
Other meal-sharers affected → food poisoning
Consider dehydration, especially in the elderly
Consider possibility of enteric fever
Acute gastroenteritis in adults
The symptoms are usually as above, but very severe diarrhoea, especially if associated with
blood or mucus, may be a feature of a more serious bowel infection such as amoebiasis. Possible
causes of diarrhoeal illness are presented in CHAPTER 129 . Most traveller’s diarrhoea is caused
by E. coli, which produces a watery diarrhoea within 14 days of arrival in a foreign country.
Another organism is Cryptosporidium parvum. If moderate to severe, azithromycin is
recommended for 2–3 days. (For specific treatment refer to the section on Traveller’s diarrhoea
Traveller’s diarrhoea
Any traveller with persistent diarrhoea after visiting less developed countries, especially India
and China, may have a protozoal infection such as amoebiasis or giardiasis.
If there is a fever and blood or mucus in the stools, suspect amoebiasis. Giardiasis is
characterised by abdominal cramps, flatulence and bubbly, foul-smelling diarrhoea.
Persistent traveller’s diarrhoea
Maintenance of hydration:
anti-emetic injection (for severe vomiting) prochlorperazine IM, statim
or
metoclopramide IV, statim
Antidiarrhoeal preparations:
(avoid if possible, but loperamide preferred) loperamide (Imodium) 2 caps statim then 1 after
each unformed stool (max. 8 caps/day)
or
diphenoxylate with atropine (Lomotil) 2 tabs statim then 1–2 (o) 8 hourly
Principles of treatment of diarrhoea
Acute diarrhoea
Rest
Your bowel needs a rest and so do you. It is best to reduce your normal activities until the
diarrhoea has stopped.
Diet
Eat as normally as possible but drink small amounts of clear fluids such as water, tea, lemonade
and yeast extract (e.g. Vegemite). Then eat low-fat foods such as stewed apples, rice (boiled in
water), soups, poultry, boiled potatoes, mashed vegetables, dry toast or bread, biscuits, most
canned fruits, jam, honey, jelly, dried skim milk or condensed milk (reconstituted with water)
Principles of treatment of diarrhoea
Acute diarrhoea
At first, avoid alcohol, coffee, strong tea, fatty foods, fried foods, spicy foods, raw vegetables, raw fruit (especially with hard skins), wholegrain cereals and cigarette smoking. On the third day introduce dairy produce, such as a small amount of milk in tea or coffee and a little butter or margarine on toast. Add also lean meat and fish (either grilled or steamed).
Principles of treatment of diarrhoea
Acute diarrhoea
Bacterial diarrhoea in adults and older children is usually self-limiting and does not require
antibiotic treatment (they may be used to shorten the course of a persistent infection).
Campylobacter, Salmonella, Shigella and E. coli are the most common causes. As a rule, use oral
rehydration solution 2–3 L orally over 24 hours if mild to moderate dehydration. If severe,
intravenous rehydration with N saline is recommended
Treatment (antimicrobial drugs)
It is advisable not to use antimicrobials except where the following specific organisms are
identified. The drugs should be selected initially from the list below or modified according to the
results of culture and sensitivity tests.
3 Only treat if symptoms have persisted for more than 48
hours. Adult doses are shown for the following specific enteric infections based on faecal
culture. Recommended empirical therapy is ciprofloxacin or norfloxacin.
Treatment (antimicrobial drugs)
Shigella dysentery (moderate to severe)
cotrimoxazole (double strength) 1 tab (o) 12 hourly for 5 days: use in children (children’s
doses)
or
norfloxacin 400 mg (o) 12 hourly for 5 days (preferred for adults)
or
ciprofloxacin 500 mg (o) bd for 5 days
Treatment (antimicrobial drugs)
Giardiasis
This protozoal infestation is often misdiagnosed. It should be considered for a persistent profuse,
watery, bubbly, offensive diarrhoea (see CHAPTER 129 ).
tinidazole 2 g (o), single dose (may need repeat)
or
metronidazole 400 mg (o) tds for 7 days
(in children: 30 mg/kg/day [to max. 1.2 g/day] as single daily dose for 3 days)
Treatment (antimicrobial drugs)
Salmonella enteritis
Antibiotics are not generally advisable, but if severe or prolonged, use:
ciprofloxacin 500 mg (o) bd for 5–7 days
or
azithromycin 1 g (o) day, then 500 mg for 6 days
or
ceftriaxone IV or ciprofloxacin IV if oral therapy not tolerated
Note: Salmonella is a notifiable disease; infants under 15 months are at risk of invasive
Salmonella infection.
Treatment (antimicrobial drugs)
Campylobacter
A zoonosis that is usually self-limiting.
Antibiotic therapy indicated in severe or prolonged cases:
azithromycin 500 mg (o) 12 hourly for 3 days
or
ciprofloxacin 500 mg (o) 12 hourly for 3 days
or
norfloxacin 400 mg (o) 12 hourly for 5 days
Treatment (antimicrobial drugs)
Amoebiasis (intestinal)
See CHAPTER 129 .
metronidazole 600–800 mg (o) tds for 6–10 days
plus
diloxanide furoate 500 mg (o) tds for 10 days
diarrhoea
Typhoid/paratyphoid fever
See CHAPTER 129 .
azithromycin 1 g (o) daily for 7 days
or
(if not acquired in the Indian subcontinent or South-East Asia)
ciprofloxacin 500 mg (o) 12 hourly for 7–10 days (use IV if oral therapy not tolerated)
If ciprofloxacin is contraindicated (e.g. in children) or not tolerated, then use:
ceftriaxone 3 g IV daily until culture and sensitivities available, then choose oral regimens
If severe: administer same drug and dosage IV for first 4–5 days
diarrhoea
Cholera
Antibiotic therapy reduces the volume and duration of diarrhoea. Rehydration is the key.
azithromycin 1 g (child 20 mg/kg up to 1 g) (o) as a single dose
or
ciprofloxacin 1 g (o) as a single dose
For pregnant women and children:
amoxicillin (child: 10 mg/kg up to) 250 mg (o) 6 hourly for 4 days
diarrhoea
Two important disorders are ulcerative colitis (UC) and Crohn disease, which have equal sex
incidence and can occur at any age, but onset peaks between 20 and 40 years.
Inflammatory bowel disease
Inflammatory bowel disease (IBD) should be considered when a young person presents with:
bloody diarrhoea and mucus
colonic pain and fever
urgency to visit toilet and feeling of incomplete defecation
constitutional symptoms including weight loss and malaise
extra-abdominal manifestations such as arthralgia, low back pain (spondyloarthropathy), eye
problems (iridocyclitis), liver disease and skin lesions (pyoderma gangrenosum, erythema
nodosum)
Inflammatory bowel disease
Investigations include FBE, vitamin B12 and folate, LFTs (abnormal enzymes), HLA-B27
, faecal
calprotectin (if normal, no intestinal inflammation; if abnormal, needs colonoscopy) and
lactoferrin.
Inflammatory bowel disease
Clinical features Mainly a disease of Western societies Mainly in young adults (15–40 years) High-risk factors—family history, previous attacks, low-fibre diet Recurrent attacks of loose stools Blood, or blood and pus, or mucus in stools Abdominal pain slight or absent Fever, malaise and weight loss uncommon
Ulcerative colitis
Begins in rectum (continues proximally)—affects only the colon: it usually does not spread
beyond the ileocaecal valve
An increased risk of carcinoma after 7–10 years
Ulcerative colitis
Main symptom Bloody diarrhoea Diagnosis Faecal calprotectin: a sensitive test Proctosigmoidoscopy: a granular red proctitis with contact bleeding Barium enema: characteristic changes Prognosis Mortality rates are comparable to the general population without UC 10 Recurrent attacks common
Ulcerative colitis
Synonyms: regional enteritis, granulomatous colitis.
The cause is unknown but there is a genetic link.
Clinical features
Recurrent diarrhoea in a young person (15–40 years)
Blood and mucus in stools (less than UC)
Colicky abdominal pain (small bowel colic)
Right iliac fossa pain (confused with appendicitis)
Constitutional symptoms (e.g. fever, weight loss, malaise, anorexia, nausea)
Signs include perianal disorders (e.g. anal fissure, fistula, ischiorectal abscess), mouth ulcers
Skip areas in bowel: ½ ileocolic, ¼ confined to small bowel, ¼ confined to colon, 4% in upper
GIT
Crohn disease
Main symptom
Page 425
Colicky abdominal pain
Diagnosis
Sigmoidoscopy: ‘cobblestone’ appearance (patchy mucosal oedema)
Colonoscopy: useful to differentiate from UC
Biopsy with endoscopy
Crohn disease
Prognosis
Less favourable than UC with both medical and surgical treatment.
A 20-year Norway study showed a 1.3 times mortality risk compared to a matched population
without Crohn disease.
Crohn disease
Management principles of both
Education and support, including support groups
Treat under consultant supervision
Treatment of acute attacks depends on severity of the attack and the extent of the disorder:
mild attacks: manage out of hospital
severe attacks: hospital, to attend to fluid and electrolyte balance
Role of diet controversial: consider a high-fibre diet but maintain adequate nutrition
Pharmaceutical agents (the following can be considered):
5-aminosalicylic acid derivatives (mainly UC): sulfasalazine (mainstay), olsalazine,
mesalazine. Usually start with these agents
corticosteroids (mainly for acute flares): oral, parenteral, topical (rectal foam, suppositories
or enemas)
for severe disease, immunomodifying drugs (e.g. azathioprine, cyclosporin, methotrexate)
and anti-TNF and biological agents (e.g. adalimumab, vedolizumab, infliximab)
Surgical treatment: reserve for complications; avoid surgery if possible
Crohn disease
Alternating diarrhoea and constipation are well-known symptoms of incomplete bowel
obstruction (cancer of colon and diverticular disease) and irritable bowel syndrome.
Alternating diarrhoea and constipation
Clinical features
Typically in younger women (21–40 years)
Any age or sex can be affected
May follow attack of gastroenteritis/traveller’s diarrhoea
Cramping abdominal pain (central or iliac fossa)—see FIGURE 34.4
Pain usually relieved by passing flatus or by defecation
Variable bowel habit (constipation more common)
Diarrhoea usually worse in morning—several loose, explosive bowel actions with urgency
The Bristol stool chart was devised to assist with the subclassification of stool types and bowel
habits (see: www.continence.org.au/pages/bristol-stool-chart.html)
Often precipitated by eating
Faeces sometimes like small hard pellets or ribbon-like
Anorexia and nausea (sometimes)
Bloating, abdominal distension, borborygmi
Tiredness common
Irritable bowel syndrome (IBS)
In the preceding 3 months, the patient has had abdominal discomfort for at least 3
days per month with two of the following three features:
relieved by defecation
onset associated with a change in stool frequency
onset associated with a change in form (appearance) of stool (loose, watery or
pellet-like)
Symptoms that cumulatively support the diagnosis of irritable bowel syndrome:
abnormal stool frequency (for research purposes may be defined as more than
three bowel movements per day or fewer than three bowel movements per
week)
abnormal stool form (lumpy/hard or watery/mushy)
abnormal stool passage (straining, urgency or feeling of incomplete
evacuation)
passage of mucus
bloating or feeling of abdominal distension
Irritable bowel syndrome (IBS)
IBS is a diagnosis of exclusion. A thorough physical examination, investigations (FBE, ESR and
stool microscopy or culture) and colonoscopy are necessary. Insufflation of air at colonoscopy
may reproduce the abdominal pain of IBS.
Irritable bowel syndrome (IBS)
These include bowel infection, food irritation (e.g. spicy foods), lactose (milk) intolerance,
excess-fibre wheat products, high fatty foods, carbonated drinks, laxative overuse, use of
antibiotics and codeine-containing analgesics, psychological factors.
Irritable bowel syndrome (IBS)
Management
The patient must be reassured and educated with advice that the problem will not cause
malignancy or inflammatory bowel disease and will not shorten life expectancy. The basis of
initial treatment is simple dietary modification (FODMAPs),
14 exercise, fluids (2–3 L water
daily) and non-fermentable fibre.
Irritable bowel syndrome (IBS)
Age of onset >50 years Fever Unexplained weight loss Rectal bleeding Pain waking at night Persistent daily diarrhoea/steatorrhoea Recurrent vomiting Major change in symptoms Mouth ulcers ↑ CRP, ESR Anaemia Family history of bowel cancer or IBD
Red flag pointers for non-IBS disease
Anyone with IBS should try to work on the things that make the symptoms worse. If you
recognise stresses and strains in your life, try to develop a more relaxed lifestyle. You may have
to be less of a perfectionist in your approach to life.
Focus on establishing a regular eating pattern. Try to avoid any foods that you can identify as
causing the problem. You may have to cut out smoking and alcohol and avoid laxatives and
codeine (in painkillers). A high-fibre (non-fermentable) and low-carbohydrate diet and 2–3 L of
water a day may be the answer to your problem.
A low-FODMAP diet can produce good benefits.
11,13,16 FODMAP refers to fermentable
oligosaccharides, disaccharides, monosaccharides and polyols, which are poorly absorbed. All of
these carbohydrates need to be eliminated (under a dietitian’s guidance), then reintroduced one at
a time.
Irritable bowel syndrome (IBS)
is a problem of the colon (90% in descending colon) and is related to lack
of fibre in the diet. It is usually symptomless.
Diverticular disorder
Clinical features
Typical in middle-aged or elderly—over 40 years
Increases with age
Present in one in three people over 60 years (Western world)
Diverticulosis—symptomless
Diverticulitis—infected diverticula and symptomatic (refer CHAPTER 24 )
Constipation or alternating constipation/diarrhoea
Intermittent cramping lower abdominal pain in LIF
Tenderness in LIF
Rectal bleeding—may be profuse (± faeces)
May present as acute abdomen or subacute obstruction
Usually settles in 2–3 days
Diverticular disorder
Complications (of diverticulitis) Bleeding—may cause massive lower GIT bleeding Abscess Perforation Peritonitis Obstruction (refer CHAPTER 24 ) Fistula—bladder, vagina
Diverticular disorder
Investigations WBC and ESR—to determine inflammation Sigmoidoscopy Page 427 Barium enema
Diverticular disorder
Management
It usually responds to a high-fibre diet.
Avoidance of constipation.
Advice to the patient
The gradual introduction of fibre with plenty of fluids (especially water) will improve any
symptoms you may have and reduce the risk of complications. Your diet should include:
1. cereals, such as bran, shredded wheat, muesli or porridge
2. wholemeal and multigrain breads
3. fresh or stewed fruits and vegetables
Bran can be added to your cereal or stewed fruit, starting with 1 tablespoon and gradually
increasing to 3 tablespoons a day. Fibre can make you feel uncomfortable for the first few weeks,
but the bowel soon settles with your improved diet.
Diverticular disorder
Children with diarrhoea
Infant under 3 months
Moderate to severe dehydration
Diagnosis of diarrhoea and vomiting in doubt (e.g. blood in vomitus or stool, bile-stained
vomiting, high fever or toxaemia, abdominal signs suggestive of appendicitis or obstruction)
Failure to improve or deterioration
A pre-existing chronic illness
When to refer
Patient with chronic or bloody diarrhoea
Any problem requiring colonoscopic investigation
Patients with anaemia
Patients with weight loss, abdominal mass or suspicion of neoplasia
Patients with anal fistulae
Patients not responding to treatment for giardiasis
Infection with E. histolytica
Long-term asymptomatic carrier of typhoid or paratyphoid fever
Patient with persistent undiagnosed nocturnal diarrhoea
Patients with IBS with a significant change in symptoms
Patients with inflammatory bowel diseases with severe exacerbations, possibly requiring
immunosuppressive therapy and with complications
Patients with ulcerative colitis of more than 7 years’ duration (screening by colonoscopy for
carcinoma)
When to refer
Oral antidiarrhoeal drugs are contraindicated in children; besides being ineffective
they may prolong intestinal recovery.
diarrhoea
Anti-emetics can readily provoke dystonic reactions in children, especially if young
and dehydrated.
diarrhoea
Acute diarrhoea is invariably self-limiting (lasts 2–5 days). If it lasts longer than 7
days, investigate with culture and microscopy of the stools.
diarrhoea
If diarrhoea is associated with episodes of facial flushing or wheezing, consider
carcinoid syndrome.
Recurrent pain in the right hypochondrium is usually a feature of IBS (not gall
bladder disease).
diarrhoea
Recurrent pain in the right iliac fossa is more likely to be IBS than appendicitis.
Beware of false correlations or premature conclusions (e.g. attributing the finding
of diverticular disorder on barium meal to the cause of the symptoms).
diarrhoea
Undercooked chicken is a common source of enteropathic bacterial infection.
Consider alcohol abuse if a patient’s diarrhoea resolves spontaneously on hospital
admission.
diarrhoea
‘Dizzy’ comes from an old English word, dysig, meaning foolish or stupid. Strictly speaking, it
means unsteadiness or lightheadedness—without movement, motion or spatial disorientation.
‘dizziness’
‘Vertigo’, on the other hand, comes from the Latin vertere (to turn) and -igo for a condition. It
should describe a hallucination of rotation of self or the surroundings in a horizontal or vertical
direction.
‘‘Vertigo’’
The term ‘dizziness’, however, is generally used collectively to describe all types of equilibrium
disorders and, for convenience
dizziness
Approximately one-third of the population will have suffered from significant
dizziness by age 65 and about a half by age 80
Dizziness/vertigo
The commonest causes in family practice are postural hypotension and
hyperventilation
Dizziness/vertigo
The ability to examine and interpret the sign of nystagmus accurately is important in
the diagnostic process.
Dizziness/vertigo
A drug history is very important, including prescribed drugs and others such as
alcohol, cocaine, marijuana and illicit drugs.
Dizziness/vertigo
Ménière syndrome is overdiagnosed. It has the classic triad: vertigo–tinnitus–
deafness (sensorineural)
Dizziness/vertigo
Vertebrobasilar insufficiency is also overdiagnosed as a cause of vertigo. It is a rare
cause but may result in dizziness and sometimes vertigo but rarely in isolation.
Dizziness/vertigo
o is defined as an episodic sudden sensation of circular motion of the body or of its
surroundings or an illusion of motion, usually a rotatory sensation. Other terms used to describe
this symptom include ‘everything spins’, ‘my head spins’, ‘the room spins’, ‘whirling’, ‘reeling’,
‘swaying’, ‘pitching’ and ‘rocking’. It is frequently accompanied by autonomic symptoms such
as nausea, retching, vomiting, pallor and sweating.
vertigo
is characteristically precipitated by standing, by turning the head or by movement.
Patients have to walk carefully and may become nervous about descending stairs or crossing the
road, and usually seek support. Therefore, the vertiginous person is usually very frightened and
tends to remain immobile during an attack and may feel their feet being lifted under them.
Vertigo
Patients may feel as though they are being impelled by some outside force that tends to pull them
to one side, especially while walking.
Vertigo
True vertigo is a symptom of disturbed function involving the vestibular system or its
central connections. It invariably has an organic cause. Important causes are presented
in TABLE 35.1 , while FIGURE 35.2 illustrates central neurological centres that can cause
vertigo. Some features of central vertigo include gait ataxia out of proportion to vertigo, diplopia,
hemisensory loss, slurred speech, difficulty swallowing and abnormal eye movements. With
peripheral vertigo, hearing loss, tinnitus, ear fullness and a positive head impulse test may be
present.
Vertigo
Peripheral disorders Labyrinth: labyrinthitis: viral or suppurative Ménière syndrome benign paroxysmal positional vertigo (BPPV) drugs trauma chronic suppurative otitis media Eight nerve: vestibular neuronitis acoustic neuroma drugs Cervical vertigo Central disorders Brain stem (TIA or stroke): vertebrobasilar insufficiency infarction Page 431 Cerebellum: degeneration tumours Migraine Multiple sclerosis
Causes of vertigo
Nystagmus is often seen with vertigo and, since 80–85% of causes are due to an ear problem,
tinnitus and hearing disorders are also occasionally associated. In acute cases there is usually a
reflex autonomic discharge producing sweating, pallor, nausea and vomiting.
vertigo
Syncope may present as a variety of dizziness or lightheadedness in which there is a sensation of
impending fainting or loss of consciousness. Presyncope is a sensation of feeling faint. Common
causes are cardiogenic disorders and postural hypotension, which are usually drug-induced.
Dizziness/vertigo
Disequilibrium implies a condition in which there is a loss of balance or instability while
walking, without any associated sensations of spinning. Other terms used to describe this include
‘unsteadiness on feet’, ‘the staggers’, ‘swaying feeling’ and ‘dizzy in the feet’.
Dizziness/vertigo
In medical school we gain the wrong impression that the common causes of dizziness or vertigo
are the relatively uncommon causes, such as Ménière syndrome, aortic stenosis, Stokes–Adams
attacks, cerebellar disorders, vertebrobasilar disease and hypertension. In the real world of
medicine, one is impressed by how often dizziness is caused by relatively common benign
conditions, such as hyperventilation associated with anxiety, simple syncope, postural
hypotension due to drugs and old age, inner ear infections, wax in the ears, post head injury,
motion sickness and alcohol intoxication. In most instances making the correct diagnosis (which,
as ever, is based on a careful history) is straightforward, but finding the underlying cause of true
vertigo can be very difficult.
Dizziness/vertigo
The common causes of vertigo seen in general practice are benign paroxysmal positional vertigo
(BPPV), accounting for about 25% of cases, acute vestibulopathy (vestibular neuronitis) and
vestibular migraine
Dizziness/vertigo
Viral labyrinthitis is basically the same as vestibular neuronitis, except that the whole of the
inner ear is involved so that deafness and tinnitus arise simultaneously with severe vertigo. The
most common causes of recurrent spontaneous vertigo are vestibular migraine and Ménière
syndrome.
Dizziness/vertigo
The important serious disorders to keep in mind are space-occupying tumours, such as acoustic
neuroma, medulloblastoma and other tumours (especially posterior fossa tumours) capable of
causing vertigo, intracerebral infections and cardiovascular abnormalities.
It is important to bear in mind that the commonest brain tumour is a metastatic deposit from lung
cancer.
Neoplasia
Neurological signs Ataxia out of proportion to vertigo Nystagmus out of proportion to vertigo Central nystagmus Central eye movement abnormalities
Red flags for dizziness/vertigo
This uncommon tumour should be suspected in the patient presenting with the symptoms shown
in the diagnostic triad below. Headache may occasionally be present.
Acoustic neuroma
DxT (unilateral) tinnitus + hearing loss + unsteady gait →
Acoustic neuroma
Diagnosis is best clinched by high-resolution MRI. Audiometry and auditory evoked responses
are also relevant investigations.
Acoustic neuroma
Cardiac disorders that must be excluded for giddiness or syncope are the various arrhythmias,
such as Stokes–Adams attacks caused by complete heart block, aortic stenosis and myocardial
infarction.
Dizziness/vertigo
The outstanding cerebrovascular causes of severe vertigo are vertebrobasilar insufficiency and
brain-stem infarction. Vertigo is the commonest symptom of transient cerebral ischaemic attacks
in the vertebrobasilar distribution.
Dizziness/vertigo
Severe vertigo, often in association with hiccoughs and dysphagia, is a feature of the variety of
brain-stem infarctions known as the lateral medullary syndrome due to posterior inferior
cerebellar artery (PICA) thrombosis. There is a dramatic onset of vertigo with cerebellar signs,
including ataxia and vomiting. There are ipsilateral cranial nerve (brain stem) signs with
contralateral spinothalamic sensory loss of the face and body. Diagnosis is by CT or MRI
scanning.
Dizziness/vertigo
Important neurological causes of dizziness are multiple sclerosis and complex partial seizures.
The lesions of multiple sclerosis may occur in the brain stem or cerebellum. Young patients who
present with a sudden onset of vertigo with ‘jiggly’ vision but without auditory symptoms should
be considered as having multiple sclerosis. Five per cent of cases of multiple sclerosis present
with vertigo.
Dizziness/vertigo
Wax in the ear certainly causes dizziness, though its mechanism of action is controversial. Cough
and micturition syncope do occur, although they are uncommon.
Ménière syndrome is a pitfall in the sense that it tends to be overdiagnosed.
Dizziness/vertigo
Of these conditions, drugs and vertebral dysfunction (of the cervical spine) stand out as
important causes. Depression demands attention because of the possible association of anxiety
and hyperventilation.
Diabetes mellitus has an association through the possible mechanisms of hypoglycaemia from
therapy or from an autonomic neuropathy.
Dizziness/vertigo
Alcohol Antibiotics: streptomycin, gentamicin, kanamycin, tetracyclines Antidepressants Anti-epileptics: phenytoin Antihistamines Antihypertensives Aspirin and salicylates Cocaine, cannabis Diuretics in large doses: intravenous frusemide, ethacrynic acid Glyceryl trinitrate Quinine: quinidine Tranquillisers: phenothiazines, phenobarbitone, benzodiazepines
Dizziness/vertigo
Drugs that can cause dizziness
Psychogenic considerations
This may be an important aspect to consider in the patient presenting with dizziness, especially if
the complaint is giddiness or lightheadedness. An underlying anxiety, particularly agoraphobia
and panic disorder, may be the commonest cause of this symptom in family practice and clinical
investigation of hyperventilation may confirm the diagnosis. The possibility of depression must
also be kept in mind.
5 Many of these patients harbour the fear that they may be suffering from a
serious disorder, such as a brain tumour or multiple sclerosis, or face an impending stroke or
insanity. Appropriate reassurance to the contrary is often positively therapeutic for that patient.
Dizziness/vertigo
A sudden attack of vertigo in a young person following a recent URTI is suggestive of
vestibular neuritis
Dizziness/vertigo
Dizziness is a common symptom in menopausal women and is often associated with other
features of vasomotor instability.
Dizziness/vertigo
Phenytoin therapy can cause cerebellar dysfunction.
Dizziness/vertigo
Postural and exercise hypotension are relatively common in the older atherosclerotic patient.
Dizziness/vertigo
Acute otitis media does not cause vertigo but chronic otitis media can, particularly if the
patient develops a cholesteatoma, which then erodes into the internal ear causing a
perilymphatic fistula.
Dizziness/vertigo
Dizziness is not a common symptom in children. Vertigo can have sinister causes and requires
referral because of the possibility of tumours, such as a medulloblastoma. A study by Eviatar
6 of
vertigo in children found that the commonest cause was a seizure focus particularly affecting the
temporal lobe. Other causes included psychosomatic vertigo, vestibular migraine and vestibular
neuritis.
Dizziness in children
Apart from the above causes it is important to consider:
infection (e.g. meningitis, meningoencephalitis, cerebral abscess)
trauma, especially to the temporal area
middle-ear infection
labyrinthitis (e.g. mumps, measles, influenza)
BPPV (short-lived attacks of vertigo in young children between 1 and 4 years of age: tends to
precede adulthood migraine)
7
hyperventilation
drugs—prescribed
illicit drugs (e.g. cocaine, marijuana)
cardiac arrhythmias
alcohol toxicity
A common trap is the acute effect of alcohol in curious children who can present with the sudden
onset of dizziness.
Dizziness/vertigo
‘Dizzy turns’ in girls in late teens
These are commonly due to blood pressure fluctuations.
Give advice related to reducing stress, lack of sleep and excessive exercise.
Reassure that it settles with age (rare after 25 years).
Dizziness/vertigo
Dizziness is a relatively common complaint of the elderly. Common causes include postural
hypotension related mainly to drugs prescribed for hypertension or other cardiovascular
problems. Cerebrovascular disease, especially in the areas of the brain stem, is also relevant in
this age group. True vertigo can be produced simply by an accumulation of wax in the external
auditory meatus, being more frequent than generally appreciated.
Middle-ear disorder is also sometimes the cause of vertigo in an older person but disorder of the
auditory nerve, inner ear, cerebellum, brain stem and cervical spine are common underlying
factors.
Malignancy, primary and secondary, is a possibility in the elderly. The possibility of cardiac
arrhythmias as a cause of syncopal symptoms increases with age.
Dizziness in the elderly
Dizziness/vertigo
‘Dizzy turns’ in elderly women
If no cause such as hypertension is found, advise them to get up slowly from sitting or lying, and
to wear firm elastic stockings.
Dizziness/vertigo
Causes:
vestibular neuritis
stroke—AICA or PICA
Vestibular neuritis covers both vestibular neuronitis and labyrinthitis, which are considered to be
a viral infection of the vestibular nerve and labyrinth respectively, causing a prolonged attack of
vertigo that can last for several days and be severe enough to require admission to hospital.
8 This
is more likely with labyrinthitis.
Acute vestibulopathy (vestibular failure)
It is analogous to a viral infection of the 7th nerve causing Bell palsy. The attack is similar to
Ménière syndrome except that there is no hearing disturbance.
Acute vestibulopathy (vestibular failure)
DxT acute vertigo + nausea + vomiting →
vestibular neuronitis
DxT same symptoms + hearing loss ± tinnitus →
acute labyrinthitis
Characteristic features
Single attack of vertigo without tinnitus or deafness
Usually preceding ‘flu-like’ illness
Mainly in young adults and middle age
Abrupt onset with vertigo, ataxia, nausea and vomiting
Generally lasts days to weeks
Examination shows lateral or unidirectional nystagmus—rapid component away from side of
Table 35.5
lesion (no hearing loss)
Caloric stimulation confirms impaired vestibular function
It is basically a diagnosis of exclusion.
Acute vestibulopathy (vestibular failure)
Causes:
vestibular neuritis
stroke—AICA or PICA
Treatment
Rest in bed, lying very still
Gaze in the direction that eases symptoms
The following drugs can be used for the first 2 days (see TABLE 35.5 ):
prochlorperazine (Stemetil) 5–10 mg (o) 6–8 hrly or 12.5 mg IM (if severe vomiting), but may
slow recovery
or
promethazine 10–25 mg IM or slow IV, then 10–25 mg (o) for 48 hrs
or
ondansetron 4–8 mg (o) 2–3 hrly
or (recommended as best)
diazepam (which decreases brain-stem response to vestibular stimuli)
2 5–10 mg IM for the
acute attack (care with respiratory depression), then 5 mg (o) tds for 2–3 days
vestibular neuronitis
acute labyrinthitis
Anti-emetics: prochlorperazine metoclopramide ondansetron Antihistamines: promethazine betahistine Benzodiazepines (short period use for vertigo): diazepam lorazepam Page 436 A short course of corticosteroids often promotes recovery (e.g. prednisolone 1 mg/kg (up to 100 mg) (o) daily in morning for 5 days, then taper over 15 days and cease)
Symptomatic relief of acute vertigo:
pharmaceutical options
Both are self-limiting disorders and usually settle over 5–7 days or several weeks. Labyrinthitis
usually lasts longer and during recovery rapid head movements may bring on transient vertigo.
vestibular neuronitis
acute labyrinthitis
is a common type of acute vertigo that is induced by changing head position—particularly
tilting the head backwards, changing from a recumbent to a sitting position or turning to the
affected side
Benign paroxysmal positional vertigo
Features
Affects all ages, especially the elderly
The female to male ratio is 2:1
Recurs periodically for several days
Each attack is brief, usually lasts 10–60 seconds and subsides rapidly
Severe vertigo on getting out of bed
Can occur on head extension and turning head in bed
Attacks are not accompanied by vomiting, tinnitus or deafness (nausea may occur)
Benign paroxysmal positional vertigo
In one large series 17% were associated with trauma, 15% with viral labyrinthitis, while about
50% had no clear predisposing factor other than age. One accepted theory of causation is that
fine pieces of floating crystalline calcium carbonate deposits (otoconia) that are loose in the
labyrinth settle in the posterior semicircular canal and generate endolymphatic movement.
11
It
may also be a variation of cervical dysfunction.
Benign paroxysmal positional vertigo
Diagnosis is confirmed by head position testing: head impulse (head thrust) test or Hallpike
manoeuvre (refer to YouTube for these manoeuvres).
12
In the latter, from a sitting position,
the patient’s head is rapidly taken to a head-hanging position 30° below the level of the couch —do three times, with the head (1) straight, (2) rotated to the right, (3) rotated to the left. Hold
on for 30 seconds and observe the patient carefully for vertigo and nystagmus. There is a
latent period of a few seconds before the onset of the symptoms
Benign paroxysmal positional vertigo
Tests of hearing and vestibular function are normal
There is usually spontaneous recovery in weeks (most return to regular activity after 1 week)
Recurrences are common: attacks occur in clusters
Benign paroxysmal positional vertigo
Management
Give appropriate explanation and reassurance
Avoidance measures: encourage the patient to move in ways that avoid the attack
Drugs are not recommended—usually ineffective
Special exercises
Cervical traction may help
Benign paroxysmal positional vertigo
Particle repositioning manoeuvres
Patient-performed exercises. Most patients appear to benefit from exercise, such as the Brandt–
Daroff procedure
13 or the Cawthorne–Cooksey exercises
10
that consist essentially of repeatedly
inducing the symptoms of vertigo. Rather than resorting to avoidance measures, the patient is
Page 437
instructed to perform positional exercises to induce vertigo, hold this position until it subsides,
and repeat this many times until the manoeuvre does not precipitate vertigo. The attacks then
usually subside in a few days.
Benign paroxysmal positional vertigo
Therapist-performed exercises. Physical manoeuvres performed as an office procedure include
the Epley and Semont manoeuvres, which aim to dislodge otoliths from a semicircular canal. The
Epley manoeuvre has a high (77%) success rate on the initial attempt and up to 100% on further
attempts.
Benign paroxysmal positional vertigo
Surgical treatment
Rarely surgical treatment is required; it involves occlusion of the posterior semicircular canal
rather than selective neurectomy.
Benign paroxysmal positional vertigo
This is caused by a build-up of endolymph.
It is an uncommon condition which is commonest in the 30–50 years age group.
It is characterised by paroxysmal attacks of vertigo, tinnitus, nausea and vomiting, sweating
and pallor, deafness (progressive).
Ménière syndrome
Onset is abrupt—patient may fall and then be bedridden for 1–2 hours. Patient doesn’t like
moving head.
Attacks last 30 minutes to several hours.
There is a variable interval between attacks (twice a month to twice a year).
Nystagmus is observed only during an attack (often to side opposite affected inner ear).
Ménière syndrome
Examination:
sensorineural deafness (low tones)
caloric test: impaired vestibular function
audiometry: sensorineural deafness, loudness recruitment
special tests
There are characteristic changes in electrocochleography.
Ménière syndrome
DxT vertigo + vomiting + tinnitus + sensorineural deafness →
Ménière syndrome
Treatment
The aim is to reduce endolymphatic pressure by reducing the sodium and water content of the
endolymph.
Ménière syndrome
Prophylaxis
hydrochlorothiazide 25 mg (o) daily or with triamterene or amiloride combination (o) once
daily.
Ménière syndrome
Acute attack
1,14
Anticipation of attack (fullness, tinnitus):
prochlorperazine 25 mg suppository
Treatment:
For severe attack, diazepam 5 mg IV ± prochlorperazine 12.5 mg IM, or if episodic, a diuretic,
e.g. hydrochlorothiazide 25 mg (o) daily
Ménière syndrome
Long term
Reassurance with a careful explanation of this condition to the patient, who often associates it
with malignant disease
Excess intake of salt, tobacco and coffee to be avoided
A low-salt diet is the mainstay of treatment (<3 g per day)
Alleviate abnormal anxiety by using stress management, meditation or possibly long-term
sedation (fluid builds up with stress)
Referral for neurological assessment
Diuretic (e.g. hydrochlorothiazide 50 mg/amiloride 5 mg once daily)—check electrolytes
regularly
Surgery may be an option for intractable cases.
Ménière syndrome
e is a relatively common cause of vertigo (up to 25% association) and often unrecognised
because of its many guises. It should be strongly suspected if there is a past and/or family history
of migraine and also where there is a history of recurrent bouts of spontaneous vertigo or ataxia
that persist for hours or days in the absence of aural symptoms.
15 Vertigo, which is usually not
violent, may take the place of the aura that precedes the headache or may be a migraine
Vestibular migraine (migrainous vertigo)
equivalent whereby the vertigo replaces the symptoms of headache, which may be an
inconspicuous feature in some cases. Nausea and vomiting may be present. Pizotifen or
propranolol are recommended for prophylaxis and a triptan for an attack
Vestibular migraine (migrainous vertigo)
Vertigo of uncertain diagnosis, especially in children
Possibility of tumour or bacterial infection
Vertigo in presence of suppurative otitis media despite antibiotic therapy
Dizziness/vertigo When to refer
Presumed viral labyrinthitis not abating after 3 months
Vertigo following trauma
Presumed Ménière syndrome, not responding to conservative medical management
Dizziness/vertigo When to refer
Evidence of vertebrobasilar insufficiency
Other neurological symptoms (including headache) and signs
BPPV persisting for more than 12 months despite treatment with particle repositioning
exercises
Dizziness/vertigo When to refer
A careful drug history often pinpoints the diagnosis.
Always consider cardiac arrhythmias as a cause of acute dizziness.
Consider phenytoin as a cause of dizziness
Dizziness/vertigo
If an intracerebral metastatic lesion is suspected, consider the possibility of carcinoma of the lung as the primary source. Three important office investigations to perform in the evaluation are blood pressure measurement (lying, sitting and standing), hyperventilation and head positional testing (or HINTS test).
Dizziness/vertigo
Cervical vertigo is common and appropriate cervical mobilisation methods, with
care, have been shown to be beneficial in a systematic review.
17
BPPV is also common and prescribing a set of exercises to desensitise the
labyrinth is recommended. Use either the Brandt–Daroff procedure or the
Cawthorne–Cooksey program
Dizziness/vertigo
Think of migraine particularly in a younger patient presenting with unexplained
recurrent vertigo.
Dizziness/vertigo
Pain or discomfort centred at the upper abdomen that is chronic or
recurrent in nature.
Dyspepsia
Excessive wind. It includes belching, abdominal bloating or passing
excessive flatus.
Flatulence
A central retrosternal or epigastric burning sensation that spreads
upwards to the throat.
Heartburn
Excessive belching Usually functional Page 440 Organic disease uncommon Due to air swallowing (aerophagy) Common in anxious people who gulp food and drink Associated hypersalivation
Flatulence
Management tips
Make patient aware of excessive swallowing
Avoid fizzy (carbonated) soft drinks
Avoid chewing gum
Don’t drink with meals
Don’t mix proteins and starches
Eat slowly and chew food thoroughly before swallowing
Eat and chew with the mouth closed
If persistent: simethicone preparation (e.g. Mylanta II, Phazyme).
Flatulence
Excessive flatus Flatus arises from two main sources: swallowed air bacterial fermentation of undigested carbohydrate Exclude: malabsorption irritable bowel syndrome anxiety → aerophagy drugs, especially lipid-lowering agents lactose intolerance
Flatulence
Management
Assess diet (e.g. high fibre, beans and legumes, cabbage, onions, grapes and raisins)
Avoid drinking with eating, especially with leafy vegetables
Cook vegetables thoroughly
Trial a lactose-free diet
Consider simethicone preparations (e.g. De-Gas)
Flatulence
Dyspepsia or indigestion is a common complaint; 80% of the population will have
experienced it at some time.
Dyspepsia (indigestion)
The presence of oesophagitis is suggested by pain on swallowing hot or cold
liquids (odynophagia).
Dyspepsia (indigestion)
Not all reflux is due to hiatus hernia.
Many of those with hiatus hernia do not experience heartburn.
All dysphagia must be investigated to rule out malignancy.
Each year, 1–2 people per 1000 have a diagnosed peptic ulcer (PU).
Dyspepsia (indigestion)
The major feature of PU disease is epigastric pain.
The pain of duodenal ulcer (DU) classically occurs at night.
At any time, 10–20% of chronic NSAIDs users have peptic ulceration.
Dyspepsia (indigestion)
NSAIDs and Helicobacter pylori infection are the most important risk factors for
upper GIT disease.
NSAIDs mainly cause gastric ulcers (GU, gastric antrum and prepyloric region),
with the duodenum affected to a lesser extent.
Dyspeptic symptoms correlate poorly with NSAID-associated ulcer.
Dyspepsia (indigestion)
It is best to consider dyspepsia as:
ulcer-like—localised pain
dysmotility-like—diffuse discomfort, feeling full after meals (early satiety), nausea, bloating
acid-reflux-like—indigestion or heartburn with acid reflux or regurgitation
The ulcer-like category may be due to an ulcer, and if not is termed functional (non-ulcer)
dyspepsia
Dyspepsia (indigestion)
burning pain →
gastro-oesophageal reflux (GORD)
constricting pain →
ischaemic heart disease or oesophageal spasm
deep gnawing pain →
PU
heavy ache or ‘killing’ pain →
psychogenic pain
Aggravating and relieving factors
Examples of these factors include:
eating food may aggravate a GU but relieve a DU
eating fried or fatty foods will aggravate biliary disease, functional dyspepsia and oesophageal
disorders
bending will aggravate GORD
alcohol may aggravate GORD, oesophagitis, gastritis, PU, pancreatitis
Dyspepsia (indigestion)
difficulty in swallowing →
oesophageal disorders
lump or constriction in throat →
psychogenic
acid regurgitation →
GORD, oesophagitis
anorexia, weight loss →
stomach cancer
symptoms of anaemia →
chronic oesophagitis or gastritis, PU, cancer (stomach, colon)
flatulence, belching, abnormal bowel habits →
irritable bowel syndrome
diarrhoea 30 minutes after meal →
mesenteric ischaemia
Diffuse mild abdominal tenderness and a pulsatile abdominal aorta (especially in thin
people) are common findings but do not necessarily discriminate between organic and functional
problems. Specific epigastric tenderness suggests peptic ulceration while tenderness over the gall
bladder area (Murphy sign) indicates gall bladder disease. An epigastric mass indicates stomach
cancer.
Dyspepsia (indigestion)
The investigation of choice is endoscopy, which is superior to barium studies in investigation of
the upper GIT. Gastroscopy is indicated for the alarm symptoms
Dyspepsia (indigestion)
Abnormal symptoms of reflux/dyspepsia Change of symptoms Dysphagia Anorexia Unexplained weight loss GIT bleeding (melaena, haematemesis) Pain radiating to back Pain waking at night Abnormal signs on examination Other tests: fasting serum gastrin (?hypersecretion)
Red flags Helicobacter pylori
Helicobacter pylori has been proved to cause ulcers. Most DUs and about two-thirds of GUs
have been attributed to H. pylori infection.
Helicobacter pylori
Non-invasive tests:
serological—IgG antibodies (sensitivity 85–90%, specificity 90–99%); excellent for diagnosis,
not for follow-up; affected by PPIs—may be negative
urea breath test (high sensitivity 97% and specificity 96%), good for follow-up
stool antigen test (sensitivity 96%, specificity 95%)
Helicobacter pylori
Invasive tests:
Page 443
gastric mucosal biopsy during endoscopy can detect H. pylori through histology (gold
standard) or rapid urease testing or H. pylori culture
Helicobacter pylori
An organic disorder is more likely in the older patient, in whom it is important to consider
stomach cancer. Symptoms such as anorexia, vomiting and weight loss point to such a problem.
Other conditions causing dyspepsia that are more prevalent in this age group are:
constipation
mesenteric artery ischaemia
Dyspepsia in the elderly
Regurgitation of feeds because of gastro-oesophageal reflux is a common physiological event in
newborn infants. A mild degree of reflux is normal in babies, especially after they burp; this
condition is called posseting.
Gastro-oesophageal reflux
Symptoms
Milk will flow freely from the mouth soon after feeding, even after the baby has been put down
for a sleep. Sometimes the flow will be forceful and may even be out of the nose.
Gastro-oesophageal reflux
Despite this vomiting or regurgitation, the babies are usually comfortable and thrive. Some
infants will cry, presumably because of heartburn.
5
In a small number the reflux may be severe enough (pathological) to cause serious problems
such as oesophagitis with haematemesis or anaemia, stricture formation, failure to thrive, apnoea
and aspiration.
Gastro-oesophageal reflux
Prognosis
Reflux gradually improves with time and usually ceases soon after solids are introduced into the
diet. Most cases clear up completely by the age of 9 or 10 months, when the baby is sitting. At
12 months, only 5% have symptoms. Severe cases tend to persist until 18 months of age
Gastro-oesophageal reflux
Investigations
These are not necessary in most cases but in those with persistent problems or complications
referral to a paediatrician is recommended. The specialist investigations include barium meal
with cine scanning, oesophageal pH monitoring or endoscopy and biopsy.
Gastro-oesophageal reflux
Management
Appropriate reassurance with parental education is important. It should be pointed out that
changes in feeding practice and positioning will control most reflux.
The infant should be placed on the left side for sleeping with the head of the cot elevated about
20–30 degrees. The old method of placing the child in a bucket is no longer considered
acceptable!
Smaller, more frequent feeds and thickening agents such as corn flour are appropriate.
Gastro-oesophageal reflux
In infants under 6 months of age with confirmed, significant reflux, giving thickened formula
feeds moderately decreases occurrences of regurgitation and parent-reported symptoms, and
improves weight gain compared with non-thickened feeds.
Gastro-oesophageal reflux
Bottle-fed babies (powdered milk formula):
Carobel: Add slightly less than 1 full scoop per bottle.
Gaviscon: Mix slightly less than ½ teaspoon of Infant Gaviscon Powder with 120 mL of
formula in the bottle.
Cornflour (maize based): Mix 1 teaspoon with each 120 mL of formula.
Prethickened formulas, e.g. Karicare and S26 AR: Easier to use but more expensive.
Gastro-oesophageal reflux
Breastfed babies:
Carobel: Add slightly less than 1 full scoop to 20 mL cool boiled water or 20 mL expressed
breast milk and give just before the feed.
Gaviscon: Mix slightly less than ½ teaspoon of Infant Gaviscon Powder with 20 mL cool
boiled water or expressed breast milk and give just after the feed.
Gastro-oesophageal reflux
For persistent or complicated reflux, including painful oesophagitis, specialist-monitored
treatment will include the use of antacids and H2
-receptor blocking agents (e.g. ranitidine)
Gastro-oesophageal reflux
Clinical features
Nausea
Bloating and belching
Heartburn
Acid regurgitation, especially lying down at night
Water brash (mouth fills with saliva)
Nocturnal cough with possible asthma-like symptoms
Diagnosis usually made on history
Investigation usually not needed (reserve for alarm features as described in the red flag box
and non-responsive treatment)
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Red flag pointers for upper GIT endoscopy Anaemia (new onset) Dysphagia Odynophagia (painful swallowing) Haematemesis or melaena Unexplained weight loss > 10% Vomiting Older age >50 years Chronic NSAID use Severe frequent symptoms Family history of upper GIT or colorectal cancer Short history of symptoms Page 444 Unresponsive H. pylori treatment Barrett oesophagus screening in high-risk patients
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Complications
Oesophagitis ± oesophageal ulcer
Iron-deficiency anaemia
Oesophageal stricture
Respiratory: chronic cough, asthma, hoarseness
Barrett oesophagus (from prolonged reflux)
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Investigations
8
Endoscopy (see Red flag pointers)—perform prior to empirical therapy. Limited role—about
one-third negative
Barium swallow and meal
24-hour ambulatory oesophageal pH monitoring
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Management of GORD8,9,10,11
Stage 1
Patient education/appropriate reassurance
Consider acid suppression or neutralisation
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Attend to lifestyle:
reduce weight if overweight (this alone may abolish symptoms)
reduce or cease smoking
reduce or cease alcohol (especially with dinner)
avoid fatty foods (e.g. pastries, french fries)
reduce or cease coffee, tea and chocolate
avoid coffee and alcohol late at night
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
avoid gaseous drinks leave at least 3 hours between the evening meal and retiring increase fibre intake (e.g. high-fibre cereals, fruit and vegetables) small regular meals and snacks eat slowly and chew food well sleep on the left side main meal at midday; light evening meal avoid spicy foods and tomato products
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Drugs to avoid: anticholinergics, theophylline, nitrates, calcium-channel blockers,
doxycycline. Pill-induced (i.e. before absorption) oesophagitis occurs, especially with
tetracyclines, slow-release potassium, iron sulphate, corticosteroids, NSAIDs—avoid taking
dry; use ample fluids
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Elevation of head of bed or wedge pillow: if GORD occurs in bed, sleep with head of bed
elevated 10–20 cm on wooden blocks or use a wedge pillow (preferable)
Antacids (see TABLES 36.4 and 36.5 ): best is liquid alginate/antacid mixture, e.g.
Gaviscon/Mylanta plus 20 mL on demand or 1–2 hours after meals and at bedtime
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Antacids Water soluble: Calcium carbonate Sodium: bicarbonate citrotartrate Note: Excess is prone to cause alkalosis—apathy, mental changes, stupor, kidney dysfunction, tetany Water insoluble: Aluminium: hydroxide glycinate phosphate Magnesium: alginate Table 36.5 Page 445 carbonate hydroxide trisilicate Combination antacids Antacid + alginic acid Antacid + oxethazaine Antacid + simethicone
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Antacids are appropriate for rapid relief of mild intermittent or occasional breakthrough
symptoms but are ineffective for long-term management.
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Stage 2
8
If no relief after several weeks, the following approaches are recommended by the
Gastroenterological Society of Australia (GESA).
8
Reduce acid secretion. Select from:
Proton-pump inhibitor (PPI) for 4 weeks (preferred agent) 30–60 minutes before food
lansoprazole 30 mg mane
or
omeprazole 20 mg mane
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
or pantoprazole 40 mg mane or esomeprazole 20 mg mane or rabeprazole 20 mg mane H2 -receptor antagonists (oral use for 8 weeks) famotidine 20 mg bd or nizatidine 150 mg bd or 300 mg nocte or ranitidine 150 mg bd pc or 300 mg nocte Antacids are useful for daytime symptoms
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Although the more traditional step-up approach of 1. Antacids → 2. H2
-receptor antagonists →
3. PPI can be used, there has been a change to favour a high-level (more potent) initial therapy
with PPIs at standard dose (a step-down approach; see FIG. 36.1 ). This is based on the grounds
of outcomes, speed of response and total cost. May need to eradicate H. pylori if present,
although there is no consistent evidence of an association with GORD.
Gastro-oesophageal reflux disease (GORD)
8,9
in adults
Surgery is usually for young people with severe reflux. The gold standard is a short, loose 360-
degree laparoscopic fundoplication.
Gastro-oesophageal reflux disease (GORD)
in adults
Common, especially in obese and >50 years.
Most asymptomatic but GORD common.
Diagnosis by barium swallow.
Hiatus hernia
Types
Sliding: GO junction slides into chest. Acid reflux common.
Rolling (paraoesophageal): bulge of stomach herniates into chest. GORD uncommon but
prone to strangulation.
Hiatus hernia
Treatment
Weight loss, esp. for GORD (treat reflux symptoms). Consider PPIs.
Surgery for intractable symptoms and for repair of rolling hernia.
Hiatus hernia
This term applies to the 60% of patients presenting with dyspepsia in which there is discomfort
on eating in the absence of demonstrable organic disease. This can be considered in two
categories (although there is overlap):
ulcer-like dyspepsia—localised pain
or
dysmotility-like dyspepsia—diffuse discomfort
Functional (non-ulcer) dyspepsia
receptor antagonist and cease if symptoms resolve
Ulcer-like dyspepsia
Clinical features Discomfort with early sense of fullness on eating Nausea Overweight Emotional stress Poor diet (e.g. fatty foods) Similar lifestyle guidelines to GORD
Dysmotility-like dyspepsia
Management Treat as for GORD (stage 1). Include antacids. If not responsive: Step 1: H2 -receptor antagonists Step 2: prokinetic agents domperidone 10 mg tds or metoclopramide 10 mg tds Consider possibility of Barrett oesophagus or gastroparesis
Dysmotility-like dyspepsia
Usually a metaplastic response to prolonged reflux
A premalignant condition (adenocarcinoma)
Lower oesophagus lined with gastric mucosa (at least 3 cm) of metaplastic columnar
epithelium
Prone to ulceration
Needs careful management, which includes PPIs for symptoms of oesophagitis + reflux
Consider 2-yearly endoscopies with biopsies
Barrett oesophagus
Diagnosed by endoscopy and biopsy
Barrett oesophagus
Features (general)
Common: 10% incidence over a lifetime, but decreasing
Peptic ulcers accounted for 1 in every 500 deaths in Australia
14
in 2018
DU:GU = 4:1
DUs common in men 3:1
Peptic ulcer disease
Risk factors: male sex family history smoking (cause and delayed healing) stress more common in blood group O NSAIDs 2–4 times increase in GU and ulcer complications H. pylori Unproven risk factors: corticosteroids alcohol (except for gastric erosion) diet (does reduce recurrence of PU)
Peptic ulcer disease
Types of ulcers: lower oesophageal gastric stomal (postgastric surgery) duodenal
Peptic ulcer disease
Note: If NSAIDs and H. pylori are not implicated, it is referred to as idiopathic (affects a small
population group).
Peptic ulcer disease
Clinical features Episodic burning epigastric pain related to meals (1–2 hours after) Relieved by food or antacids (generally) Dyspepsia common May be ‘silent’ in elderly on NSAIDs Physical examination often unhelpful
Peptic ulcer disease
Investigations
Endoscopy (investigation of choice):
15 92% predictive value
Barium studies: 54% predictive value
Serum gastrin (consider if multiple ulcers)
H. pylori test: serology or urea breath test; diagnosis usually based on urease test performed at
endoscopy
Peptic ulcer disease
Complications Perforation Bleeding → haematemesis and melaena Obstruction—pyloric stenosis Anaemia (blood loss) Cancer (in GU) Oesophageal stenosis
Peptic ulcer disease
This can be treated with endoscopic haemostasis with electrocautery heater probe or injection of
adrenaline or both. Also IV omeprazole 80 mg bolus, then 8 mg/hr IV infusion for 3 days.
Surgery is an option. IV esomeprazole, omeprazole or pantoprazole can also be used.
Bleeding peptic ulcer
Management of peptic ulcer disease Aims of treatment: relieve symptoms accelerate ulcer healing prevent complications minimise risk of relapse
Bleeding peptic ulcer
The treatment of a GU is similar to that for a DU except that GUs take about 2 weeks longer to
heal and the increased risk of malignancy has to be considered.
Bleeding peptic ulcer
Stage 1 9 General measures: (lifestyle and symptom relief) same principles as for GORD stop smoking avoid irritant drugs: NSAIDs, aspirin normal diet but avoid foods that upset antacids
Bleeding peptic ulcer
If H. pylori positive—eradicate with combined therapy. Confirm eradication with a urea breath
test (DU) or repeat gastroscopy (GU) and repeat if still present.
10
If H. pylori negative—treat with full-dose PPI.
Bleeding peptic ulcer
Proton-pump inhibitors
Proton-pump inhibitors (PPIs) provide more potent acid suppression and heal GUs and DUs
more rapidly than H2
-receptor antagonists.
4–8-week oral course
PPIs are frequently used for longer than needed, with many people on long-term high
Bleeding peptic ulcer
doses which are unnecessary and potentially harmful (risk of C. difficile, osteoporotic
fractures, pneumonia, nutritional deficiencies). Consider deprescribing for those without Barrett
oesophagus, high-grade oesophagitis or GI bleeding. Long-term users may experience rebound
symptoms upon cessation; reduce gradually and offer prn occasional use.
16
Use with caution in:
the elderly
those on drugs, especially warfarin, anticonvulsants, beta blockers
liver disease
Bleeding peptic ulcer
This organism has a proven link with PU disease (both DU and benign non-drug induced GU),
gastric cancer and MALToma (a gastric lymphoma) because of mucosal infection. This
hypothesis is supported by a very low relapse of DU in subjects eradicated of H. pylori. Most
infected people are asymptomatic but infection leads to a lifetime risk of peptic ulcer disease in
15–20% and of gastric cancer in up to 2%.
12 Twenty per cent of people have a variety of
symptoms including those from gastritis and duodenitis. Treatment is based on combination
triple or quadruple therapy, which can achieve a successful eradication rate of 85–90%.
Therapy to eradicate Helicobacter pylori
Drug treatment regimens (examples) 9 First-line therapy: PPI (e.g. omeprazole or esomeprazole 20 mg) plus clarithromycin 500 mg plus amoxicillin 1 g
Therapy to eradicate Helicobacter pylori
All orally twice daily for 7 days; this is the preferred regimen (available as a combination
pack)
Note: A 10–14-day course improves eradication rate by approx. 5%.
1
or
PPI + clarithromycin + metronidazole 400 mg (twice daily for 7 days)—if hypersensitive to
penicillin
or
PPI + amoxicillin + levofloxacin (for salvage therapy)
or
other combinations: quadruple therapy, e.g. bismuth + PPI + tetracycline + metronidazole (for
failed triple combination)
Therapy to eradicate Helicobacter pylori
Note: Resistance to metronidazole is common (>50%) and to clarithromycin is increasing (about
5% plus), but uncommon with tetracycline and amoxicillin.
6
Antacids are good for daytime relief.
Maintenance anti-secretory therapy is usually unnecessary for H. pylori ulcers after successful
eradication.
9
For children with confirmed H. pylori:
PPI + amoxicillin + clarithromycin
Therapy to eradicate Helicobacter pylori
Surgical treatment Indications (now uncommon) include: failed medical treatment after 1 year complications: uncontrollable bleeding perforation pyloric stenosis suspicion of malignancy in GU
Therapy to eradicate Helicobacter pylori
NSAIDs and peptic ulcers 9,19 1. Ulcer identified in NSAID user: stop NSAID (if possible) check smoking and alcohol use try alternative anti-inflammatory analgesic: paracetamol enteric-coated, slow-release aspirin
Therapy to eradicate Helicobacter pylori
corticosteroids intra-articular or oral
PPI for 4 weeks (gives best results)
Note: Healing time is doubled if NSAID continued.
3 About 90% heal within 12 weeks. Check
healing by endoscopy at 12 weeks. Do H. pylori test.
Therapy to eradicate Helicobacter pylori
Prevention of ulcers in NSAID user: 19 Primary prophylaxis is usually reserved for those at significantly increased risk, e.g. older persons (>75 years) and past history PU. Use one of the following PPIs: 9 esomeprazole 20 mg bd for 7 days or omeprazole 20 mg daily or pantoprazole 40 mg daily Increased dietary fibre assists DU healing and prevention.
Therapy to eradicate Helicobacter pylori
Note: Do H. pylori test and, if present, it should be eradicated with combination therapy after the
ulcer has healed, especially in people who continue to take NSAIDs
Therapy to eradicate Helicobacter pylori
This is an inflammatory condition with antibodies to parietal cells and intrinsic factor. It is
asymptomatic and may lead to pernicious anaemia. Diagnosis is confirmed by histology or
endoscopy. H. pylori is absent.
Treat with iron and vitamin B12 if they are low
Autoimmune gastritis
This is the fourth most common cancer worldwide.
Clinical features
Male to female ratio = 3:1
Usually asymptomatic early
Stomach cancer
Consider if upper GIT symptoms in patients over 40 years, especially weight loss Recent-onset dyspepsia in middle age Dyspepsia unresponsive to treatment Vague fullness or epigastric distension Anorexia, nausea ± vomiting Dysphagia—a late sign Onset of anaemia Changing dyspepsia in GU Changing symptoms in pernicious anaemia H. pylori is implicated as a cause. Its treatment reduces the risk 1 and is recommended in highrisk groups
Stomach cancer
Also implicated in gastric mucosa-associated lymphoid tissue (MALT) lymphoma
Risk factors: ↑ age, blood group A, smoking, sugar, atrophic gastritis, diet—high in salted and
smoked foods
Stomach cancer
Limited physical findings
Palpable abdominal mass (20%)
Stomach cancer
DxT malaise + anorexia + dyspepsia + weight loss →
Stomach cancer
DxT triple loss of appetite + weight + colour →
Stomach cancer
Investigations
Endoscopy and biopsy is optimal test
Barium meal—false negatives
Stomach cancer
Treatment
Surgical excision: may be curative if diagnosed early but overall survival is poor (22% at 5
years)
Stomach cancer
When to refer
Infants with persistent gastro-oesophageal reflux not responding to simple measures
Failure to respond to stage 1 therapy for heartburn, when endoscopy is required
Patients with persistent or recurrent ulcers
Any patient with a PU complication, such as haemorrhage, obstruction or perforation
Dyspepsia (indigestion)
Scleroderma is a rare but important cause of oesophagitis.
Advise patients never to ‘dry swallow’ medications.
Persistent dysphagia always warrants investigation, not observation.
Dyspepsia (indigestion)
Beware of attributing anaemia to oesophagitis.
Epigastric pain aggravated by any food, relieved by antacids = chronic GU.
Epigastric pain before meals, relieved by food = chronic DU.
Dyspepsia (indigestion)
Keep in mind the malignant potential of a GU.
A change in the nature of symptoms with a GU suggests the possibility of
malignant change.
Avoid the long-term use of water-soluble antacids.
Investigate the alarm symptoms—dysphagia, bleeding, anaemia, weight loss,
waking at night, pain radiating to the back.
Dyspepsia (indigestion)
is difficulty in swallowing. It is a common problem affecting up to 22% of patients at
some point in the general practice setting.
1
It is usually associated with a sensation of hold-up of
the swallowed bolus and is sometimes accompanied by pain
Dysphagia
Its origin is considered as either oropharyngeal or oesophageal. Oropharyngeal dysphagia is
usually related to neuromuscular dysfunction and is commonly caused by stroke. Oesophageal
dysphagia is usually due to motor disorders, such as achalasia or diffuse oesophageal spasm, and
to peptic oesophageal strictures often secondary to reflux. In this type of dysphagia there is a
sensation of a hold-up, which may be experienced in either the cervical or retrosternal region.
1
Causes are usually classified as functional, mechanical and neurological
Dysphagia
Neurological Examples: stroke, myasthenia, MND
Dysphagia
Mechanical luminal mural extramural Example: foreign body Example: stricture, tumour Example: extrinsic compression (i.e. goitre)
Dysphagia
must not be confused with globus sensation, which is the sensation of the constant
‘lump in the throat’ although there is no actual difficulty swallowing food. If dysphagia is
progressive or prolonged then urgent attention is necessary.
Dysphagia
There are only a few common causes of dysphagia and these are usually readily diagnosed on the
history and two or three investigations. A careful history is very important, including a drug
history and psychosocial factors.
Dysphagia
Any disease or abnormality affecting the tongue, pharynx or oesophagus can cause dysphagia.
Patients experience a sensation of obstruction at a definite level with swallowing food or
water; hence, it is convenient to subdivide dysphagia into oropharyngeal and oesophageal.
Dysphagia
Pain from the oropharynx is localised to the neck.
Pain from the oesophagus is usually felt over the T2–6 area of the chest.
Oropharyngeal causes: difficulty initiating swallowing; food sticks at the suprasternal notch
level; regurgitation; aspiration
Dysphagia
Oesophageal causes: food sticks to mid to lower sternal level; pain on swallowing solid foods,
especially meat, potatoes and bread, and then eventually liquids.
A pharyngeal pouch usually causes regurgitation of undigested food and gurgling may be
audible over the side of the neck.
Neurological disorders typically result in difficulty swallowing or coughing or choking due to
food spillover, especially with liquids.
Dysphagia
Dysphagia for solids only indicates a structural lesion, such as a stricture or tumour.
Dysphagia for liquids and solids is typical of an oesophageal motility disorder, namely
achalasia.
2
GORD tends to exclude achalasia.
Scleroderma may lead to a peptic stricture.
Dysphagia
Gastroenterologists suggest the ‘big three’ common causes referred for specialist investigation
are benign peptic stricture, cancer and achalasia.
3
Intermittent dysphagia for both liquids and solids is characteristic of a motility disorder such
as oesophageal achalasia.
Malignant oesophageal obstruction is usually evident when there is a short history of rapidly
progressive dysphagia and significant weight loss
Dysphagia
Red flag pointers for dysphagia Table 37.2 Age >50 years Recent or sudden onset Unexplained weight loss Painful swallowing Progressive dysphagia Dysphagia for solids Hiccoughs Hoarseness Neurological symptoms/signs
Dysphagia
Red flag pointers for dysphagia
Functional (e.g. ‘express’ swallowing, psychogenic)
Tablet-induced irritation
Pharyngotonsillitis
GORD/reflux oesophagitis
Dysphagia
Foreign body Drugs (e.g. phenothiazines, bisphosphonates) Subacute thyroiditis Extrinsic lesions (e.g. lymph nodes, goitre) Upper oesophageal web (e.g. Plummer–Vinson syndrome) Diffuse oesophageal spasm Eosinophilic oesophagitis Radiotherapy Achalasia Upper oesophageal spasm (mimics angina) Rarities (some): Sjögren syndrome aortic aneurysm aberrant right subclavian artery lead poisoning cervical osteoarthritis (large osteophytes) other neurological causes other mechanical causes Seven masquerades checklist Depression Drugs Thyroid disorder Is the patient trying to tell me something? Yes. Could be functional. ?Globus sensation.
Dysphagia
Full blood examination: ?anaemia Neurological cause: oesophageal motility study (manometry) Mechanical: extrinsic compression (e.g. barium swallow, CT scan, chest X-ray) intrinsic (e.g. endoscopy ± barium swallow) PET scan: good for identifying oesophageal cancer and gastro-oesophageal function
Dysphagia
The primary investigation in suspected pharyngeal dysphagia is a video barium swallow,
5 while
endoscopy is generally the first investigation in cases of suspected oesophageal dysphagia.
Barium swallow should precede endoscopy in the latter when there is a suspected oesophageal
‘ring’ and suspected oesophageal dysmotility. If endoscopy and radiology are negative, consider
oesophageal motility studies to look specifically for achalasia or other less common motility
disorders.
Dysphagia
Fibrous stricture of lower third oesophagus (can be higher)
Follows years of reflux oesophagitis
Usually older people
Dysphagia with solid food
Dysphagia
Benign peptic stricture
Diagnosis confirmed by endoscopy and barium swallow
Benign peptic stricture
Treatment
Dilate the stricture
Treat reflux vigorously
Benign peptic stricture
Dysphagia at beginning of meal
Progressive dysphagia for solid food steadily progressive over weeks
Can remain silent and tends to be invasive when diagnosed
Hiccoughs may be an early sign
Oesophageal cancer
Hoarseness and cough (upper third)
Discomfort or pain—throat, retrosternal, interscapular
Weight loss can be striking
Associations: GORD, tobacco, Barrett oesophagus
Oesophageal cancer
Diagnosis confirmed by barium swallow and endoscopy
Both SCC upper third (commonest) and adenocarcinoma, distal third
Adenocarcinoma associated with Barrett mucosa
Plummer–Vinson syndrome
Treatment is usually palliative surgery
Oesophageal cancer
DxT fatigue + progressive dysphagia + weight loss →
Oesophageal cancer
A disorder of oesophageal motility
Widely dilated oesophagus
Empties poorly through a smoothly tapered lower end
Achalasia
Gradual onset of dysphagia for both liquids and solids
Fluctuating symptoms—dysphagia, regurgitation
Chest discomfort
Diagnosis confirmed by barium swallow or manometry
Manometry is the only way to diagnose with certainty
Achalasia
Treatment
Conservative in the elderly (e.g. nifedipine/or endoscopic botulinum toxin injection into the
sphincter)
Pneumatic dilatation of lower oesophageal sphincter or surgical myotomy
Note: Prokinetic drugs have no place in treatment.
Achalasia
Tetracycline, especially doxycycline, can cause painful ulceration in all age groups.
Delayed passage of some drugs (due to pre-existing disorders) can cause local ulceration, even
perforation (especially in the elderly) (e.g. iron tablets, slow-release potassium, aspirin,
NSAIDs, bisphosphonates, zidovudine, antibiotics).
The elderly are prone to the problem if they ingest drugs upon retiring to bed with insufficient
liquid washdown
Drug-induced oesophageal injury
Management
Stop drugs or swallow them upright with a glass of water
Take antacids
Drug-induced oesophageal injury
Also referred to as ‘globus hystericus’ or ‘lump in the throat’, it is the subjective sensation of a
lump in the throat. It appears to be associated with psychological stress (e.g. unresolved hurt,
grief, non-achievement). Suppression of sadness is most often implicated.
7 No specific aetiology
or physiological mechanism has been established. The symptom can be associated with GORD,
from frequent swallowing or an emotionally based dry throat.
Globus sensation (cricopharyngeal spasm)
Clinical features Sensation of being ‘choked up’ or ‘something stuck’ or lump—a very real sensation Not affected by swallowing Eating and drinking may provide relief Normal investigations
Globus sensation (cricopharyngeal spasm)
Management
Usually settles with education, reassuring support and time (up to several months)
Avoid swallowing very hot drinks
No drug of proven value
Treat any underlying psychological disorder
Globus sensation (cricopharyngeal spasm)
Pain on swallowing is basically caused by irritation of an inflamed or ulcerated (in particular)
mucosa by the swallowed food bolus, usually meat, which may impact. Food bolus impaction
may be very serious. If drinking water or, better still, 25–50 mL of a carbonated drink is
ineffective, urgent upper GIT endoscopy may be required.
Globus sensation (cricopharyngeal spasm)
Important causes include:
GORD (the commonest cause) with associated oesophagitis
oesophageal spasm, especially distal oesophagus
oesophageal candidiasis, especially in the immunosuppressed
herpes simplex oesophagitis, in the immunosuppressed
cytomegalovirus oesophagitis, in the immunosuppressed
Globus sensation (cricopharyngeal spasm)
pill-induced oesophagitis/ulceration
oesophageal cancer
achalasia
Globus sensation (cricopharyngeal spasm)
Common infective causes—candida species, herpes simplex virus (HSV), cytomegalovirus.
These are more prone to occur in the immunocompromised.
Present with odynophagia and/or dysphagia.
Diagnosis is by upper GI endoscopy and biopsy
Infective oesophagitis
Treat with nystatin 100 000 units/mL suspension, 1 mL (o) 6 hrly for 10–14 weeks.
If poor response, fluconazole (o), or IV if not tolerated orally.
If no response to fluconazole, itraconazole (o). Refer to therapeutic guidelines.
Oesophageal candidiasis
Treat with aciclovir IV until oral therapy possible, then famciclovir or valaciclovir.
Herpes simplex
Eosinophilic oesophagitis is increasingly being recognised as a cause of dysphagia, gastrooesophageal reflux and acute food bolus obstruction in both children (particularly) and adults. It
may present as infant colic.
9
It should be considered in those who regularly experience food
getting stuck in their throat. It is associated with allergic disorders such as hay fever, cow’s milk
allergy and asthma.
Eosinophilic oesophagitis
The IgE is elevated. Refer to gastroscopy, which may show eosinophilic
infiltrates in the oesophagus on mucosal biopsies. However, symptoms usually resolve within 72
hours of eliminating the offending food. A six-food elimination diet (cow’s milk protein, wheat,
soy, eggs, seafood and peanuts) has been shown to reduce symptoms in up to 90%.
1 Treatment of
the acute attack includes IM buscopan and a swallowed topical corticosteroid aerosol, e.g.
fluticasone twice daily for 8 weeks
Eosinophilic oesophagitis
Although dysphagia is a common psychogenic symptom, it must always be taken
seriously and investigated.
Eosinophilic oesophagitis
Mechanical dysphagia represents cancer until proved otherwise.
Progressive dysphagia and weight loss in an elderly patient is oesophageal
cancer until proved otherwise.
Eosinophilic oesophagitis
Oesophageal cancer usually causes pain, wasting and regurgitation.
Globus sensation or hystericus, an anxiety disorder, should not be confused with
dysphagia. It is the subjective sensation of a lump or mass in the throat.
Particularly seen in young women.
Eosinophilic oesophagitis
Cancer-induced achalasia occurs with tumours at the gastro-oesophageal junction
usually due to adenocarcinoma of the stomach.
Severe oesophageal reflux predisposes to adenocarcinoma
Eosinophilic oesophagitis
Oesophageal strictures can be benign, usually secondary to chronic reflux
oesophagitis, or due to malignancy.
Be careful of a change of symptoms in the presence of longstanding reflux.
Consider stricture or cancer.
Eosinophilic oesophagitis
A prominent hard lymph node in the left supraclavicular fossa (Troisier sign) is
suggestive of cancer of the stomach.
Dysphagia can be caused by a tight fundoplication and can be diagnosed by
manometry or barium swallow.
Eosinophilic oesophagitis
Thin liquids, e.g. fruit juice, coffee, tea
- Nectar-thick liquids, e.g. creamy soup, tomato juice
- Honey-consistency diet (honey-thick liquids)
- Pudding-thick foods, e.g. mashed bananas, cooked cereals, purees
- Mechanical soft foods, e.g. meat loaf, baked beans, casseroles
- Chewy foods, e.g. pizza, cheese, bagels
- Foods that fall apart, e.g. bread, rice, muffins
Dietary adjustments (dysphagia diets)
is the subjective sensation of breathlessness that is excessive for any given level of
physical activity. It is a cardinal symptom affecting the cardiopulmonary system and can be very
difficult to evaluate. Appropriate breathlessness following activities such as running to catch a
bus or climbing several flights of stairs is not abnormal but may be excessive due to obesity or
lack of fitness.
Dyspnoea
Determination of the underlying cause of dyspnoea in a given patient is absolutely
essential for effective management.
Dyspnoea
The main causes of dyspnoea are lung disease, heart disease, obesity and
functional hyperventilation.
1
The most common cause of dyspnoea encountered in family practice is airflow
obstruction, which is the basic abnormality seen in chronic asthma and chronic
obstructive pulmonary disease (COPD).
Dyspnoea
Wheezing, which is a continuous musical or whistling noise, is an indication of
airflow obstruction.
Some patients with asthma do not wheeze and some patients who wheeze do not
have asthma.
Dyspnoea
Other important pulmonary causes include restrictive disease, such as fibrosis,
collapse and pleural effusion.
Dyspnoea is not inevitable in lung cancer but occurs in about 60% of cases.
Dyspnoea
Normal respiratory rate is 12–16 breaths/minute.
Dyspnoea
Breathlessness lying down flat.
Orthopnoea
Inappropriate breathlessness causing waking
from sleep.
Paroxysmal nocturnal dyspnoea
An increased rate of breathing.
Tachypnoea
is any continuous musical expiratory noise heard with the stethoscope or otherwise. Wheeze includes stridor, which is an inspiratory wheeze.
Wheezing
Localised: partial bronchial obstruction: impacted foreign body impacted mucus plugs extrinsic compression tracheomalacia Generalised: asthma obstructive bronchitis bronchiolitis
Wheezing Common causes of wheezing
The term ‘cardiac asthma’ is (somewhat confusingly) used to describe a wheezing sensation such
as that experienced with paroxysmal nocturnal dyspnoea.
Wheezing
The common causes of dyspnoea are lung disease, heart disease, obesity, anaemia (tissue
hypoxia) and functional hyperventilation. More specifically, bronchial asthma, COPD, acute
pulmonary infections and left heart failure (often insidious) are common individual causes.
Dyspnoea
The most practical instrument for office use to detect chronic airway obstruction due to asthma
or chronic bronchitis is the mini peak flow meter, which measures peak expiratory flow rate
(PEFR). However, it gives considerably less information than spirometry.
Peak expiratory flow rate
The interpretation of the tests, which vary according to sex, age and height, requires charts of
predicted normal values. A chart for PEFR in normal adult subjects is presented in Appendix V.
The value for a particular patient should be the best of three results
Peak expiratory flow rate
is the gold standard test, and increasingly available in general practice. The
measurement of the forced vital capacity (FVC) and the forced expiratory volume in one second
(FEV1
) provide a very useful guide to the type of ventilatory deficit. Both the FVC and the FEV1
are related to sex, age and height.
Spirometry
The FEV1 expressed as a percentage of the FVC is an excellent measure of airflow limitation. In
normal subjects it is approximately 70%. A normal spirometry pattern is shown in FIGURE 38.1
and abnormal patterns in FIGURE 38.2 . FIGURE 38.3 summarises the relative values for these
conditions.
Spirometry
Tidal volume (TV) and vital capacity (VC) can be measured by a simple spirometer but the total lung capacity and the residual volume are measured by the helium dilution method in a respiratory laboratory (rarely required).
Lung volume
An outstanding monitoring aid is transcutaneous pulse oximetry, which estimates oxygen
saturation (SpO2
) of capillary blood. The estimates are generally very accurate and correlate to
within 5% of measured arterial O2 saturation (SaO2
).
7 The ideal level is 97–100%; median levels
—neonates 97%, children 98%, adults 98%. <92% is very serious.
Pulse oximetry
This test indicates the presence of airway or bronchial hyper-reactivity, which is a fundamental
feature with asthma. The test should not be performed on those with poor lung function and only
performed by a respiratory technician under medical supervision. The test is potentially
dangerous
Histamine challenge test
Normal pleural space has 10–20 mL fluid
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Can be detected on X-ray if >300 mL fluid in pleural space
Can be detected clinically if >500 mL fluid
Can be subpulmonary—simulates a raised diaphragm
Pleural effusion
May be asymptomatic
Dyspnoea common with large effusion
Chest pain in setting of pleuritis, infection or trauma
Signs: refer TABLE 38.6
The fluid may be transudate or exudate (diagnosed by aspirate)
If bloodstained—malignancy, pulmonary infarction, TB
Pleural effusion
Protein content <25 g/L; lactic dehydrogenase <200 IU/L.
Pleural effusion
Transudate
Causes
Heart failure (90% of cases)
Hypoproteinaemia, e.g. nephrotic syndrome
Liver failure with ascites
Constrictive pericarditis
Hypothyroidism
Ovarian tumour—right-sided effusion (Meigs syndrome)
Pleural effusion
Transudate
Protein content >35 g/L; lactic dehydrogenase >200 IU/L
Pleural effusion
Exudate
Causes
Infection—bacterial pneumonia, pleurisy, empyema, TB, viral
Malignancy—bronchial carcinoma, mesothelioma, metastatic
Pulmonary infarction
Pleural effusion
Exudate
Connective tissue diseases (e.g. SLE, RA) Acute pancreatitis Lymphoma Sarcoidosis HIV with parasitic pneumonia
Pleural effusion
Exudate
Aspiration if symptomatic: may require repeats and pleurodesis. Treat the underlying cause.
Pleural effusion
Exudate
There are numerous causes of dyspnoea in children but the common causes are asthma,
bronchiolitis and pulmonary infections. The important infections that can be fatal—croup,
epiglottitis and myocarditis—must be kept in mind and intensively managed.
Dyspnoea in children
Bronchiolitis is an important cause of respiratory distress in infants under 6–12 months. It should
not be confused with asthma (refer to CHAPTER 89 ) and does not respond to salbutamol or
corticosteroids.
Dyspnoea in children
Sudden breathlessness or stridor may be due to an inhaled foreign body. Signs of lobar collapse
may be present but physical examination may be of little help and a chest X-ray is essential.
Cardiovascular disorders, including congenital heart disease, can cause dyspnoea. Extra
respiratory causes include anaemia, acidosis, aspiration, poisoning and hyperventilation
Dyspnoea in children
y is common and is caused usually by heart failure and COPD. Other
associations with ageing include lung cancer, pulmonary fibrosis and drugs. The classic problem
of the aged is acute heart failure that develops typically in the early morning hours. The acute
brain syndrome is a common presentation of all these disorders.
Dyspnoea in the elderly
e occurs when the heart is unable to maintain sufficient cardiac output to meet the
demands of the body. Dyspnoea is a common early symptom as pulmonary congestion causes
hypoxia (increased ventilation) and decreased compliance (increased work). The incidence of
congestive cardiac failure (CCF) has been increasing steeply, partly due to the ageing population.
Heart failure
Symptoms Increasing dyspnoea progressing to (in order): fatigue, especially exertional fatigue paroxysmal nocturnal dyspnoea weight change: gain or loss
Heart failure
It is convenient to divide heart failure into left and right heart failure but they rarely occur in
isolation and often occur simultaneously. Right failure is invariably secondary to left failure. The
distinction between systolic and diastolic dysfunction is increasingly being replaced by the
related concept of heart failure with reduced or preserved ejection fraction (HFrEF and HFpEF).
Both present in the same way clinically; diagnosis requires echocardiography and sometimes
other tests such as BNP. This permits an accurate diagnosis and prognosis, and helps guide
treatment.
Heart failure
Chronic bronchitis and emphysema should be considered together as both these conditions
usually coexist to some degree in each patient. An alternative, and preferable, term—chronic
obstructive pulmonary disease (COPD)—is used to cover chronic bronchitis and emphysema
with chronic airflow limitation.
Chronic obstructive pulmonary disease
comprise a group of disorders that have the common features of
inflammation (pneumonitis) and fibrosis of the interalveolar septum, representing a non-specific
reaction of the lung to injury of various causes.
Interstitial lung diseases (ILD)
In many there is a hypersensitivity reaction to various unusual antigens. The fibrosis may be
localised as following unresolved pneumonia, bilateral as with tuberculosis or widespread.
Consider the possibility of fibrosis of the lungs in chronic dyspnoea and a dry cough
with normal resonance. If ILD is suspected, referral to a specialist physician for diagnosis is
advisable.
Interstitial lung diseases (ILD)
Causes of widespread interstitial pulmonary fibrosis include:
idiopathic pulmonary fibrosis
hypersensitivity pneumonitis (extrinsic allergic alveolitis)
drug-induced
lymphangitis carcinomatosis
various occupational lung disorders (pneumoconiosis)
Interstitial lung diseases (ILD)
sarcoidosis
acute pulmonary oedema
immunological/multisystemic disease (e.g. connective tissue disorders, rheumatoid arthritis,
vasculitis, inflammatory bowel disease)
Common clinical features:
dyspnoea and dry cough (insidious onset)
fine inspiratory crackles at lung base with faint breath sounds
cyanosis and finger clubbing may be present
Interstitial lung diseases (ILD)
PFTs: restrictive ventilatory deficit decrease in gas transfer factor characteristic X-ray changes High-resolution CT scanning has been a major advance in diagnosis. May show ‘honeycomb lung’.
Interstitial lung diseases (ILD)
also known as idiopathic fibrosing interstitial pneumonia and
cryptogenic fibrosing alveolitis, is the most common diagnosis among those presenting with
interstitial lung disease.
Idiopathic pulmonary fibrosis
People usually present in the fifth to seventh decade with the clinical features as outlined under
interstitial lung diseases, such as slowly progressive dyspnoea over months to years. Chest X-ray
abnormalities are variable but include bilateral diffuse nodular or reticulonodular shadowing
favouring the lung bases.
Idiopathic pulmonary fibrosis
High-resolution CT scans are effective for diagnosis. Open lung biopsy
may be needed for diagnosis and staging. The usual prognosis is poor, with death occurring
about 3.5–5 years after diagnosis. The usual treatment is high doses of oral corticosteroids with
azathioprine and no smoking
Idiopathic pulmonary fibrosis
is a multisystemic disorder of unknown aetiology, which is characterised by noncaseating granulomatous inflammation that involves the lung in about 90% of affected patients.
A characteristic feature is bilateral hilar lymphadenopathy, which is often symptomless and
detected on routine chest X-ray (CXR). Radiological lung involvement can be associated with or
occur independently of hilar lymphadenopathy.
Pulmonary sarcoidosis
Clinical features 8,9 May be asymptomatic (one-third) Onset usually third or fourth decade (but any age) Bilateral hilar lymphadenopathy (on CXR) Cough Fever, malaise, arthralgia
Pulmonary sarcoidosis
Skin lesions: erythema nodosum, lupus pernio
Ocular lesions (e.g. anterior uveitis)
Other multiple organ lesions (uncommon)
Overall mortality 2–5%
Erythema nodosum with an acute swinging fever, malaise and arthralgia in a young adult female
is diagnostic of sarcoidosis.
Pulmonary sarcoidosis
Diagnosis
Histological evidence from biopsy specimen, usually transbronchial biopsy (essential if an
alternative diagnosis, e.g. lymphoma, cannot be excluded) or skin biopsy in cases of erythema
nodosum. A better modern diagnostic method is biopsy via video-assisted thoracoscopy.
Pulmonary sarcoidosis
Supporting evidence:
Page 464
elevated serum ACE (non-specific)
PFTs: restrictive pattern; impaired gas transfer in advanced cases
+tive Kveim test (not recommended these days)
serum calcium
Pulmonary sarcoidosis
Treatment
Sarcoidosis may resolve spontaneously (hilar lymphadenopathy without lung involvement does
not require treatment).
Indications for treatment with corticosteroids:
no spontaneous improvement or worsening after 3–6 months
symptomatic pulmonary lesions
eye, CNS and other systems involvement
hypercalcaemia, hypercalciuria
erythema nodosum with arthralgia
persistent cough
Pulmonary sarcoidosis
A physiological process measured as impairment of
forced expiratory flow, which is the major cause of dyspnoea in these patients.
Chronic airflow limitation
A clinical condition characterised by a productive cough on
most days for at least 3 months of the year for at least 2 consecutive years in the
absence of any other respiratory disease that could be responsible for such
excessive sputum production (such as tuberculosis or bronchiectasis).
Chronic bronchitis
A chronic, slowly progressive disorder characterised by the presence of
airway obstruction, which may (or may not) be partially reversible by
bronchodilator therapy.
COPD
This is defined in pathological rather than clinical terms as permanent
dilatation and destruction of lung tissue distal to the terminal bronchioles.
Emphysema
Corticosteroid treatment
9
Table 38.7
Prednisolone 0.5 mg/kg (up to 50 mg) (o) daily for 4–6 weeks, then reduce to lowest dose that
maintains improvement.
9
If there is a response, taper the dose to 10–15 mg (o) daily as a
maintenance dose for 6–12 months.
9
Prednisolone 20–30 mg for 2 weeks for erythema nodosum of sarcoidosis.
sarcoidosis
is characterised by a widespread
diffuse inflammatory reaction in both the small airways of the lung and the alveoli, due to the
inhalation of allergens, which are usually spores of micro-organisms such as thermophilic
actinomycetes in ‘farmer’s lung’ or (more commonly) avian protein from droppings or feathers
in ‘bird fancier’s lung’. Occupational causes of extrinsic alveolitis have been described by
Molina
Hypersensitivity pneumonitis (extrinsic allergic alveolitis)
Illness may present as acute or subacute episodes of pyrexia, chills and malaise with dyspnoea
and a peripheral neutrophil several hours after exposure.
12 Management is based on prevention,
namely avoiding exposure to allergens or wearing protective, fine-mesh masks. Prednisolone can
be used (with caution) to control acute symptoms. Note that this allergic disorder is different
from the infection psittacosis.
Hypersensitivity pneumonitis (extrinsic allergic alveolitis)
Alveolitis with or without pulmonary fibrosis. This is mainly due to cytotoxic drugs,
nitrofurantoin and amiodarone. The drug should be removed and consideration given to
prescribing prednisolone 50 mg (o) daily for several weeks, depending on response.
Drug-induced interstitial lung disease
Eosinophilic reactions. This is presumably an immunological reaction, which may present as
wheezing, dyspnoea, a maculopapular rash and pyrexia. The many implicated drugs include
various antibiotics, NSAIDs, cytotoxic agents, major tranquillisers and antidepressants, and
anti-epileptics. Treatment is drug removal and a short course of prednisolone 20–40 mg (o)
daily for 2 weeks.
Drug-induced interstitial lung disease
Non-cardiogenic acute pulmonary oedema. This is rare and has been reported to occur with
opioids, aspirin, hydrochlorothiazide, β2-adrenoceptor agonists (given IV to suppress
premature labour), cytotoxics, interleukin-2, heroin.
Drug-induced interstitial lung disease
The term ‘pneumoconiosis’ refers to the accumulation of dust in the lungs and the reaction of
tissue to its presence, namely chronic fibrosis. The main cause worldwide is inhalation of coal
dust, a specific severe variety being progressive massive fibrosis (complicated coal worker’s
pneumoconiosis) in which the patient suffers severe dyspnoea of effort and a cough often
productive of black sputum
Pneumoconiosis
Of particular concern are diseases caused by inhalation of fibres of asbestos, which is a mixture
of silicates of iron, magnesium, cadmium, nickel and aluminium. These diseases include
asbestosis, diffuse pleural thickening, pleural plaques, mesothelioma and increased bronchial
carcinoma in smokers. Pulmonary asbestosis has classic X-ray changes but high-resolution CT
scans may be required to confirm the presence of calcified pleural plaques. It usually takes 10–20
years from exposure for asbestosis to develop and 20–40 years for mesothelioma to develop,
8
while bronchial carcinoma is caused by the synergistic effects of asbestosis and cigarette
smoking.
Pneumoconiosis
caused by the inhalation of very fibrogenic silica particles, is a constant concern for
workers. Mild cases cause no or minimal symptoms, but those affected experience progressive
dyspnoea, intense dry cough and weakness.
Silicosis
Investigations include FBE, chest X-ray, CT scan, pulse oximetry and spirometry (restrictive
ventilatory defect).
Management: avoid further exposure, wear special protective masks and check for associated
tuberculosis.
Silicosis
also known as acute lung injury and formerly called ‘adult respiratory distress
syndrome’, refers to acute hypoxaemic respiratory failure following a pulmonary or systemic
insult with no apparent cardiogenic cause of pulmonary oedema. This occurs about 12–48 hours
after the event.
13 The most common cause is sepsis, which accounts for about one-third of ARDS
patients. The mortality rate is 30–40%, increasing if accompanied by sepsis. Management is
based on early diagnosis, early referral, identification and treatment of the underlying condition
and then optimal intensive care
Acute respiratory distress syndrome (ARDS)
Clinical features Sudden onset of respiratory distress Stiff lungs—reduced lung compliance Refractory hypoxaemia Bilateral pulmonary infiltrates on X-ray No apparent evidence of congestive heart failure Absence of elevated left atrial pressure Specific gas exchange abnormalities
Acute respiratory distress syndrome (ARDS)
Signs: tachypnoea, laboured breathing, rib retraction, central cyanosis, fine crackles on
auscultation
Acute respiratory distress syndrome (ARDS)
The differential diagnoses are pneumonia and acute heart failure. Common risk
factors/associations for ARDS include (indirectly—systemic)—sepsis, shock, trauma, burns,
drug overdose (e.g. heroin), multiple transfusions, obstetric complications (e.g. eclampsia,
amniotic fluid embolism), and many direct causes such as pulmonary aspiration, toxic gas
inhalation, blast injury and pneumonia (e.g. COVID-19, SARS). Admit to an intensive care unit.
Acute respiratory distress syndrome (ARDS)
The disease caused by the SARS-CoV-2 coronavirus was declared by WHO to be a pandemic in
March 2020 (see CHAPTER 18 ). It has since proven to be the most deadly respiratory pandemic
in a century.
16 Widespread vaccination commenced around a year after the virus was first
identified. The mortality rate is around 1–2% (around 10 times the seasonal influenza rate), with
most fatalities in those aged over 50 years; deaths in children are very rare.
Coronavirus infection and COVID-19
Effective primary preventive measures at an individual level include: regular handwashing,
social/physical distancing, avoiding large gatherings (particularly indoors), wearing face masks
and coughing/sneezing etiquette. The majority of transmission is via asymptomatic (usually presymptomatic) individuals—hence the need for universal precautions
Coronavirus infection and COVID-19
Most get mild symptoms similar to URTIs: mild fever, dry cough, sore throat, rhinorrhoea,
malaise, headache, muscle pain.
Diarrhoea and vomiting are common, and loss of taste/smell is notable.
Dyspnoea (respiratory distress caused by pneumonia) increases with the severity of the illness,
and is a cardinal feature in those requiring ICU admission
Coronavirus infection and COVID-19
Extrapulmonary complications include septic shock, acute kidney injury (proteinuria is
common), altered mental state and multiorgan failure.
There is no effective, specific treatment for the virus; treatment is supportive.
Long COVID: of those hospitalised, 70% report fatigue and half remain breathless 1–2 months
post-discharge.
Coronavirus infection and COVID-19
Dyspnoea is usually due to resolving infection and deconditioning—but bear in mind the
increased risk of lung fibrosis, pulmonary embolus, myocarditis, heart failure and rhythm
disturbance.
18
GPs should critically review ongoing symptoms, offer supportive treatment and investigate
where necessary.
Coronavirus infection and COVID-19
Remember to order a chest X-ray and pulmonary function tests in all doubtful
cases of dyspnoea.
dyspnoea
All heart diseases have dyspnoea as a common early symptom.
Increasing dyspnoea on exertion may be the earliest symptom of incipient heart
failure.
Several drugs can produce a wide variety of respiratory disorders, particularly
pulmonary fibrosis and pulmonary eosinophilia. Amiodarone and cytotoxic drugs,
especially bleomycin, are the main causes.
dyspnoea
Dyspnoea in the presence of lung cancer may be caused by many factors, such
as pleural effusion, lobar collapse, upper airway obstruction and lymphangitis
carcinomatosis.
The abrupt onset of severe dyspnoea suggests pneumothorax or pulmonary
embolism.
If a patient develops a relapse of dyspnoea while on digoxin therapy, consider the
real possibility of digoxin toxicity and/or electrolyte abnormalities leading to left
heart failure.
dyspnoea
Recurrent attacks of sudden dyspnoea, especially waking the patient at night, are
suggestive of asthma or left heart failure.
Causes of hyperventilation include drugs, asthma, thyrotoxicosis and panic
attacks/anxiety.
dyspnoea
Dyspnoea is associated with about 60% of cases of lung cancer
3
(see CHAPTER 32 ). It is not a
common early symptom unless bronchial occlusion causes extrinsic collapse. In advanced
cancer, whether primary or secondary, direct spread or metastases may cause dyspnoea. Other
factors include pleural effusion, lobar collapse, metastatic infiltration, upper airway obstruction
due to superior vena cava (SVC) obstruction and lymphangitis carcinomatosis. A special
problem arises with coexisting chronic bronchitis and emphysema.
Bronchial carcinoma
Dyspnoea
is a common symptom in general practice. It affects all ages, but is most
prevalent in children, where otitis media is the commonest cause. Ear pain may be caused by
disorders of the ear or may arise from other structures, and in many instances the precise
diagnosis is difficult to make
Pain in the ear (otalgia)
External ear: Perichondritis Otitis externa: Candida albicans Aspergillus nigra Pseudomonas spp. Staphylococcus aureus Furunculosis Trauma Neoplasia Herpes zoster (Ramsay–Hunt syndrome) Viral myringitis Wax-impacted
Pain in the ear (otalgia)
Middle ear: Eustachian insufficiency Eustachian tube dysfunction – – – – Barotrauma Acute otitis media Chronic otitis media and cholesteatoma Acute mastoiditis
Pain in the ear (otalgia)
2 Periotic cause Dental disorders, e.g. dental abscess; malocclusion Upper cervical spinal dysfunction TMJ arthralgia Parotitis Temporal arteritis Lymph node inflammation
Pain in the ear (otalgia)
A patient with a painful ear often requests urgent attention, and calls in the middle of the night
from anxious parents of a screaming child are commonplace. Infants may present with nothing
except malaise, vomiting or screaming attacks
Pain in the ear (otalgia)
Of patients presenting with earache, 77% can be expected to have acute otitis
media and 12% otitis externa.
Pain in the ear (otalgia)
Approximately 1 in every 25 patients in general practice will present with an
earache.
Two-thirds of children will sustain at least one episode of otitis media by their
second birthday; 1 in 7 children will have had more than 6 episodes by this age.
Peak prevalence is 9–15 months.
Pain in the ear (otalgia)
Otitis media is unlikely to be present if the tympanic membrane (TM) is mobile.
Pneumatic otoscopy greatly assists diagnosis since the most valuable sign of otitis
media is absent or diminished motility of the TM.
Bullous myringitis, which causes haemorrhagic blistering of the eardrum or external
ear canal, is an uncommon cause of severe pain. It is caused by a virus, probably
influenza.
3 Consider herpes zoster.
Pain in the ear (otalgia)
The role of antibiotics (usually amoxicillin) is limited.
Otitis externa can be distinguished from otitis media by pain on movement of the
pinna.
Pain in the ear (otalgia)
Probability diagnosis Otitis media (viral or bacterial) Otitis externa (fungal, viral or bacterial) TMJ arthralgia Eustachian tube dysfunction Serious disorders not to be missed Neoplasia of external ear Cancer of other sites (e.g. tongue, nasopharynx) Herpes zoster (Ramsay–Hunt syndrome) Acute mastoiditis Cholesteatoma Necrotising otitis externa Pitfalls (often missed) Foreign bodies in ear Hard ear wax Barotrauma Dental causes (e.g. abscess) Referred pain: neck, throat Unerupted wisdom tooth and other dental causes TMJ arthralgia Facial neuralgias, esp. glossopharyngeal Chondrodermatitis nodularis helicis Furuncles of canal or pinna Post tonsillectomy:
Pain in the ear (otalgia)
The commonest cause of ear pain is acute otitis media. Chronic otitis media (often painless) and
otitis externa are also common. In the tropics, ‘tropical ear’ due to acute bacterial otitis is a
particular problem. Temporomandibular joint (TMJ) arthralgia, which may be acute or chronic,
is also common and must be considered, especially when otitis media and otitis externa are
excluded.
Pain in the ear (otalgia)
As always, it is important not to overlook malignant diseases, especially the obscure ones, such
as cancer of the tongue, palate or tonsils, which cause referred pain.
Locally destructive cholesteatoma associated with chronic otitis media must be searched for. It
signifies the ‘unsafe’ ear (see FIG. 39.1 ) that must be distinguished from the so-called ‘safe’
ear
Pain in the ear (otalgia)
Herpes zoster should be considered; it is easily missed if it does not erupt on the pinna and is
confined to the ear canal (usually the posterior wall), and especially in the older person.
Pain in the ear (otalgia)
The medical aphorism ‘more things are missed by not looking than by not knowing’ applies
particularly to the painful ear—good illumination and focusing of the auroscope are mandatory.
Particular attention should be paid to the external canal—look for hard wax, otitis externa,
furuncles and foreign objects such as insects.
Pain in the ear (otalgia)
It may not be possible to visualise the TMs so consider cleaning the canal to permit this (if
possible, on the first visit), particularly if there are any atypical presenting features. Otitis media
may coexist with otitis externa. Barotrauma should be considered, especially if pain follows air
travel or diving.
Pain in the ear (otalgia)
Offensive discharge >9 days
Downward displacement of pinna
Swelling behind ear
Neurological symptoms (e.g. headaches, drowsiness)
Older person: unexplained, intractable ear pain
Persistent fever
Pain in the ear (otalgia)
Red flag pointers for painful ear
Investigations
Investigations are seldom necessary. Office-based hearing tests are useful, especially for
children; use speech discrimination, hair rubbing and/or tuning fork tests. For potentially
ongoing conditions such as chronic otitis media, refer for audiometry. Audiometry combined
with tympanometry and physical measurement of the volume of the ear canal can be performed
in children, irrespective of age.
Pain in the ear (otalgia)
Swabs from discharge, especially to determine bacterial causes, such as Staphylococcus aureus
or Pseudomonas spp. infection, may be necessary. However, swabs are of no value if the TM is
intact.
Radiology and CT/MRI scanning may be indicated for special conditions such as a suspected
extraotic malignancy
Pain in the ear (otalgia)
Important causes of primary otalgia in children include otitis media (particularly acute), otitis
Page 472
externa, external canal furuncle or abscess, chronic eczema with fissuring of the auricle,
impacted wax, foreign body, barotrauma, perichondritis, mastoiditis and bullous myringitis.
Secondary otalgia includes pharyngeal lesions, dental problems, gingivostomatitis, mumps and
postauricular lymphadenopathy. Peritonsillar abscess (quinsy) may cause ear pain.
Pain in the ear (otalgia)
Ear pain in children
Foreign bodies (FBs) are frequently inserted into the ear canal (see FIG. 39.6 ). They can
usually be syringed out or lifted with thin forceps. Various improvised methods can be used to
remove FBs in cooperative children. These include a probe to roll out the FB, a hooked needle or
a rubber catheter used as a form of suction, or otherwise a fine sucker.
Pain in the ear (otalgia)
Probe method
This requires good vision using a head mirror or head light and a thin probe. The probe is
inserted under and just beyond the FB. Lever it in such a way that the tip of the probe ‘rolls’ the
foreign body out of the obstructed passage. With practice, this can be done with the probe
inserted through the middle of an auriscope whose lens is slid half-way open.
Pain in the ear (otalgia)
Rubber catheter suction method
The only equipment required for this relatively simple and painless method is a straight rubber
catheter (large type) and perhaps a suction pump. The end of the catheter is cut at right angles, a
thin smear of petroleum jelly is applied to the rim and this end is applied to the FB. Suction is
applied either orally or by a pump. Gentle pump suction is preferred but it is advisable to pinch
closed the suction catheter until close to the FB as the hissing noise may frighten the child
Pain in the ear (otalgia)
Insects in the ear
Live insects should be immobilised by first instilling drops of vinegar, methylated spirits or olive
oil, and then syringing the ear with warm water.
Dead flies that have originally been attracted to pus are best removed by suction or gentle
syringing.
Note: If simple methods such as syringing fail to dislodge the FB, it is important to refer for
examination and removal under microscopic vision. Syringing should not be performed if there
is a possibility of the FB perforating the TM.
Pain in the ear (otalgia)
Otitis media is very common in children and is the most common reason a child is brought in for
medical attention. Persistent middle-ear effusions may follow and affect the language and
cognitive development of young children. An abrupt onset is a feature.
Pain in the ear (otalgia)
Otitis media in children
Clinical features It is a clinical diagnosis Two peaks of incidence: 9–15 months of age, and school entry Seasonal incidence coincides with URTIs Bacteria cause two-thirds of cases
Pain in the ear (otalgia)
Otitis media in children
The commonest organisms are Streptococcus pneumoniae, Haemophilus influenzae and
Moraxella catarrhalis
Fever, irritability, otalgia and otorrhoea may be present
The main symptoms in older children are increasing earache and hearing loss
Pulling at the ears is a common sign in infants
Removal of wax may be necessary to visualise the TM (about 30% have occluded views),
although with the decreasing role of antibiotics this visualisation becomes less crucial
Pain in the ear (otalgia)
Otitis media in children
Visualisation of the tympanic membrane
Use the largest ear speculum that will comfortably fit in the child’s ear. A good technique to
enable the examination of the ears (also nose and throat) in a reluctant child is where the child is
held against the parent’s chest while the parent’s arm embraces the child’s arm and trunk. Use of
the pneumatic otoscope may reveal absent or limited movement.
Pain in the ear (otalgia)
Otitis media in children
Treatment
Provide adequate pain relief with paracetamol or a NSAID. Short-term use of topical 2%
lignocaine drops is effective for severe cases.
Pain in the ear (otalgia)
Otitis media in children
Many children with viral URTIs have mild reddening or dullness of the eardrum and antibiotics
are not warranted, particularly in the absence of systemic features (fever and vomiting).
5 Best
practice in healthy, non-Indigenous children over 6 months of age is shared decision making
with parents about symptomatic relief with analgesics and watchful waiting
Pain in the ear (otalgia)
Otitis media in children
The role of antibiotics in acute otitis media has diminished in response to emerging evidence
from large double-blinded RCTs. The number needed to treat (NNT) with an antibiotic to
prevent pain in one child at day 2–3 is 20, and no reduction in pain is found compared to placebo
at day 1 or day 7
Pain in the ear (otalgia)
Otitis media in children
The antibiotic of choice for children who fit into those categories is a 5-day course of:
5
amoxicillin 15 mg/kg 8 or 12 hourly up to 500 mg (o)
or
amoxicillin 30 mg/kg 12 hourly (o)
If β-lactamase-producing bacteria are suspected or documented, or initial treatment fails, use:
amoxicillin/clavulanate 22.5+3.2 mg/kg 12 hourly
Pain in the ear (otalgia)
Otitis media in children
Consider immediate and aggressive treatment:
infants <6 months
children <2 years with bilateral OM
acute OM in the only hearing ear
risk of complications in vulnerable groups, e.g. Aboriginal and Torres Strait Islander
children, immunocompromised, cochlear implant (usually IV antibiotics)
Other considerations:
neurological symptoms, e.g. facial palsy, vertigo
Possible clinical indications for antibiotics in children with
painful otitis media
sick child (fever and other systemic features) persistent fever and pain after 48–72 hours’ conservative approach
Possible clinical indications for antibiotics in children with
painful otitis media
For children with penicillin allergy, use:
trimethoprim/sulfamethoxazole 4+20 mg/kg 12 hourly
or
cefuroxime 15 mg/kg 12 hourly
children with
painful otitis media
With appropriate treatment most children with acute otitis media are significantly improved
within 48 hours. Parents should be encouraged to contact their doctor if no improvement occurs
within 72 hours. This problem is usually due to a resistant organism or suppuration. With a view
to hospital admission, the patient should be re-evaluated at 10 days
children with
painful otitis media
Antibiotic drops
A randomised trial has found that antibiotic eardrops are superior to oral antibiotics for the
treatment of acute otorrhoea in babies with grommets.
9 This method has advocates among
specialists who recommend ciprofloxacin drops following aural toilet.
children with
painful otitis media
Symptomatic treatment
Rest the child in a warm room with adequate humidity. Use analgesics such as paracetamol or
ibuprofen in high dosage. Local anaesthetic ear drops are a reasonable option.
Follow-up: at review, check that the otitis media symptoms and signs have resolved, and perform
an office-based hearing screen. If there are doubts about hearing, or a middle-ear effusion
persists, refer for audiological screening.
children with
painful otitis media
Complications
5,6
Middle-ear effusion. 70% of children will have an effusion present 2 weeks from the time of
diagnosis, 40% at 4 weeks, with 10% having persistent effusions for 3 months or more. If the
effusion is still present at 6–8 weeks, a course of antibiotics should be prescribed.
2
If the
effusion persists beyond 3 months, refer for an ENT opinion or earlier if an associated speech
delay or educational difficulty (especially a 20 dB hearing loss).
children with
painful otitis media
Acute mastoiditis. This is a rare, major complication that presents with pain, swelling and
tenderness developing behind the ear associated with a general deterioration in the condition
of the child (see FIG. 39.7 ). Such a complication requires immediate referral.
Chronic suppurative otitis media. Discharge through a perforation of the TM >6 weeks.
Consider ciprofloxacin 0.3% ear drops, 5 drops 12 hourly until discharge free for at least 3 days.
Rare complications. These include labyrinthitis, petrositis, facial paresis and intracranial
abscess.
children with
painful otitis media
This represents incomplete resolution of suppurative otitis media. Signs include loss of drum
mobility, hearing loss and abnormal impedance confirmed by pneumatic otoscopy or
tympanometry. Most resolve spontaneously but a Cochrane review7
found that resolution at 2–3
months was more likely if oral antibiotics were used (NNT=5, NNH [harms of side effects]=20).
Consider recommending the safer and cheaper option of autoinflation, using Otovent-assisted
nasal inflation.
10 There is no evidence to support the use of nasal steroid sprays,
11 antihistamines
or decongestants
children with painful otitis media Glue ear (serous otitis media)
If an effusion lasts for >3 months, arrange for a hearing assessment and consider referral to an
ENT surgeon for possible tympanostomy tubes (grommets).
However, bear in mind that the evidence of benefit for grommets is also modest—a minor
improvement in hearing (around 10 dB) at 3–6 months that subsequently disappears as natural
resolution catches up. Grommets have not been demonstrated to benefit speech, language or
behaviour.
children with painful otitis media Glue ear (serous otitis media)
A positive outcome from arranging hearing assessment may be altering classroom seating
position and the use of sound amplifiers; these are frequently used in remote area Aboriginal and
Torres Strait Islander schools, where rates of glue ear are very high.
children with painful otitis media Glue ear (serous otitis media)
Recurrent acute bacterial otitis media Antibiotic prevention of acute otitis media is indicated (arguably) if it occurs more often than every other month or for three or more episodes in 6 months or >4 in 12 months. 14 Treat as for acute otitis media. Consider: chemoprophylaxis (for about 4 months) amoxicillin twice daily (first choice) or cefaclor twice daily
children with painful otitis media
Consider Pneumococcus vaccine in children over 18 months of age (if not already given) in
combination with the antibiotic. Avoid smoke exposure (cigarettes and wood fires) and group
child care.
Consider review by ENT consultant.
children with painful otitis media
Viral infections
Most children with viral URTIs have mild–moderate reddening or dullness of the eardrum and
antibiotics are not warranted. If painful bullous otitis media is present, either prick the bulla with
a sterile needle for pain relief or instil dehydrating eardrops such as anhydrous glycerol.
children with painful otitis media
Causes of otalgia that mainly afflict the elderly include herpes zoster (Ramsay–Hunt syndrome),
TMJ arthralgia, temporal arteritis and neoplasia. It is especially important to search for evidence
of malignancy.
Ear pain in adults and the elderly
Acute otitis media causes deep-seated ear pain, deafness and often systemic illness (see
FIG. 39.8 ). The sequence of symptoms is a blocked ear feeling, pain and fever. Discharge may
follow if the TM perforates, with relief of pain and fever.
Ear pain in adults and the elderly
The commonest organisms are viruses (adenovirus and enterovirus), and the bacteria H.
influenzae, S. pneumoniae, Moraxella catarrhalis and β-haemolytic streptococci.
The two cardinal features of diagnosis are inflammation and middle-ear effusion.
Ear pain in adults and the elderly
Appearance of the tympanic membrane (all ages)
Translucency. If the middle-ear structures are clearly visible through the drum, otitis media is
unlikely.
Colour. The normal TM is a shiny pale-grey to brown: a yellow colour is suggestive of an
effusion.
Ear pain in adults and the elderly
Diagnosis The main diagnostic feature is the redness of the TM. The inflammatory process usually begins in the upper posterior quadrant and spreads peripherally and down the handle of the malleus (see FIG. 39.9 ). The TM will be seen to be reddened and inflamed with engorgement of the vessels, particularly along the handle of the malleus. The loss of light reflex follows and anatomical features then become difficult to recognise as the TM becomes oedematous. Bulging of the drum is a late sign. Blisters are occasionally seen on the TM and this is thought to be due to a viral i n f e c t i o n i n t h e e p i d e r m a l l a y e r s o f t h e d r u m.
Ear pain in adults and the elderly
Treatment of acute otitis media (adults)
Analgesics to relieve pain
Adequate rest in a warm room
Antibiotics for 5 days, repeated if necessary
Treat associated conditions (e.g. adenoid hypertrophy)
Follow-up: review and test hearing audiometrically
Ear pain in adults and the elderly
Antibiotic treatment
5
First choice:
amoxicillin 750 mg (o) bd for 5 days
5
or
500 mg (o) tds for 5 days
A longer course (up to 10 days) may be required depending on severity and response to 5-day
course.
Alternatives:
doxycycline 100 mg (o) bd for 5–7 days (daily for milder infections)
or
cefaclor 250 mg (o) tds for 5–7 days
or
(if resistance to amoxicillin is suspected or proven) amoxicillin/potassium clavulanate
500/125 mg (o) tds for 5 days (the most effective antibiotic)
Consider surgical intervention for failed therapy.
Ear pain in adults and the elderly
Chronic otitis media
There are two types of chronic suppurative otitis media and they both present with deafness and
discharge without pain. The discharge occurs through a perforation in the TM: one is safe (see
FIG. 39.10A ), the other unsafe
Ear pain in adults and the elderly
If aural discharge persists for >6 weeks after a course of antibiotics, treatment can be with topical
Table 39.3
Table 39.4
Page 477
steroid and antibiotic combination drops, following ear toilet. The toileting can be done at home
by dry mopping with a rolled tissue spear. If persistent, referral to exclude cholesteatoma or
chronic osteitis is advisable.
Ear pain in adults and the elderly
Chronic discharging otitis media (safe)
Recognising the unsafe ear
Examination of an infected ear should include inspection of the attic region, the small area of
drum between the lateral process of the malleus, and the roof of the external auditory canal
immediately above it. A perforation here renders the ear ‘unsafe’ (see FIG. 39.1 ); other
perforations, not involving the drum margin (see FIG. 39.2 ), are regarded as ‘safe’.
Ear pain in adults and the elderly
Chronic discharging otitis media (safe)
Cholesteatoma
16
Refer CHAPTER 33 .
The status of a perforation depends on the presence of accumulated squamous epithelium
(termed cholesteatoma) in the middle ear because this erodes bone. An attic perforation contains
such material; safe perforations do not.
Red flags for cholesteatoma include meningitis-type features, cranial nerve deficits,
sensorineural hearing loss and persistent deep ear pain.
Ear pain in adults and the elderly
Chronic discharging otitis media (safe)
Cholesteatoma is visible through the hole as white flakes, unless it is obscured by discharge or a
persistent overlying scab (or wax). Either type of perforation can lead to chronic infective
discharge, the nature of which varies with its origin. Mucus admixture is recognised by its stretch
and recoil when this discharge is being cleaned from the external auditory canal.
Ear pain in adults and the elderly
Chronic discharging otitis media (safe)
Management
If an attic perforation is recognised or suspected, specialist referral is essential. Cholesteatoma
cannot be eradicated by medical means: surgical removal is necessary to prevent a serious
infratemporal or intracranial complication. Adjunct suction with care may be necessary to
decompress the mass
Ear pain in adults and the elderly
Chronic discharging otitis media (safe)
also known as ‘swimmer’s ear’, ‘surfer’s ear’ and ‘tropical ear’,
is common in a country whose climate and coastal living leads to extensive water sports. It is
more prevalent in hot humid conditions and therefore in the tropics.
Otitis externa
Predisposing factors are allergic skin conditions, ear canal trauma, water penetration (swimming,
humidity, showering), water and debris retention (wax, dermatitis, exostoses), foreign bodies,
contamination from swimming water including spas, and use of Q tips and hearing aids
Otitis externa
Common responsible organisms Bacteria: Pseudomonas sp. Escherichia coli S. aureus Proteus sp. Klebsiella sp. Fungi: Candida albicans
Otitis externa
Clinical features Itching at first Otalgia/pain (mild to intense) in 70% Fullness in ear canal Scant discharge Hearing loss
Otitis externa
Signs Oedema (mild to extensive) Tenderness on moving auricle or jaw Erythema Discharge (offensive if coliform) Pale cream ‘wet blotting paper’ debris—C. albicans (see FIG. 39.12 ) Black spores of Aspergillus nigra TM granular or dull red
Otitis externa
Obtain culture, especially if resistant Pseudomonas sp. suspected, by using small ear swab.
Note: ‘Malignant’ otitis externa occurs in diabetics due to Pseudomonas infection at base of
skull.
Otitis externa
Management
Aural toilet
Meticulous aural toilet by gentle suction and dry mopping with a wisp of cotton wool on a fine
brooch under good lighting is the keystone of management. This enables topical medication to be
applied directly to the skin.
Otitis externa
Syringing
This is appropriate in some cases but the canal must be dried meticulously afterwards. For most
cases it is not recommended.
Otitis externa
Topical antimicrobials for acute diffuse otitis externa
5,17
Most effective, especially when the canal is open, is an antibacterial, antifungal and
corticosteroid preparation, e.g.:
Kenacomb, Otodex or Sofradex drops (2–3 drops tds)
or
Locacorten-Vioform drops (2–3 drops bd)
or
Ciproxin HC (3 drops bd)
Otitis externa
Use all for 7 days. Be cautious of ear drops with neomycin (hypersensitivity). The tragus should
be pumped for 30 seconds after instillation by pressing on it repeatedly, within the limitation of
any pain.
Otitis externa
Other measures 15 Strong analgesics are essential Antibiotics have a minimal place in treatment unless a spreading cellulitis has developed (refer if in doubt)
Otitis externa
Prevent scratching and entry of water
Use a wick soaked in combination steroid and antibiotic ointment for more severe cases
Follow up ENT opinion for ‘red flags
Otitis externa
Dressings
Dressings are recommended in moderate and severe otitis media. After cleaning and drying,
insert a cotton ear wick (an alternative is 10–20 cm of 4 mm Nufold gauze—see FIG. 39.13 )
impregnated with a steroid and antibiotic cream.
Otitis externa
For severe oedematous otitis externa, a wick (e.g. Pope ear wick) is important and will reduce the
oedema and pain in 12–24 hours (see FIG. 39.13 ). The wick can be soaked in an astringent (e.g.
aluminium acetate 4% solution or glycerin and 10% ichthammol). The wick needs replacement
daily until the swelling has subsided.
Otitis externa
Practice tip for severe ‘tropical ear’
Prednisolone (o) 15 mg statim then 10 mg 8-hourly for six doses followed by:
Merocel ear wick
topical Kenacomb or Sofradex drops
Otitis externa
Prevention
Keep the ear dry, especially those involved in water sports
Protect the ear with various waterproofing methods:
Page 479
cotton wool coated with petroleum jelly
an antiseptic drying agent (e.g. ethanol) after swimming and showering
tailor-made ear plugs (e.g. EAR foam plugs)
silicone putty or Blu-Tack
a bathing cap pulled well forward allows these plugs to stay in situ
Avoid poking objects such as hairpins and cotton buds in the ear to clean the canal
If water enters, shake it out or use Aquaear drops (acetic acid/isopropyl alcohol), 4–5 drops to
help dry the canal
Otitis externa
This severe complication, usually due to Pseudomonas aeruginosa, can occur in the person who
is elderly, immunocompromised or has diabetes. It involves cartilage and bone, and should be
considered where there is treatment failure, severe persistent pain or fever and visible granulation
tissue. Urgent referral is advisable.
Necrotising otitis externa
is a staphylococcal infection of the hair follicle in the outer cartilaginous part of the
ear canal. It is usually intensely painful. Fever occurs only when the infection spreads in front of
the ear as cellulitis. The pinna is tender on movement—a sign that is not a feature of acute otitis
media. The furuncle (boil) may be seen in the external auditory meatus
Acute localised otitis externa (furunculosis)
Management
If pointing, it can be incised after a local anaesthetic or freezing spray
Warmth (e.g. use hot washcloth, hot-water bottle)
If fever with cellulitis—flu/dicloxacillin or cephalexin
Acute localised otitis externa (furunculosis)
is infection of the cartilage of the ear characterised by severe pain of the pinna,
which is red, swollen and exquisitely tender. It is rare and follows trauma or surgery to the ear.
As the organism is frequently P. pyocyaneus, the appropriate antibiotics must be carefully
chosen (e.g. ciprofloxacin).
Perichondritis
In a pierced ear, the cause is most likely a contact allergy to nickel in an earring, complicated by
a S. aureus infection.
Infected ear lobe
Management
Discard the earrings
Clean the site to eliminate residual traces of nickel
Page 480
Swab the site and then commence antibiotics (e.g. flucloxacillin or erythromycin)
Infected ear lobe
Instruct the person to clean the site daily, and then apply the appropriate ointment
Use a ‘noble metal’ stud to keep the tract patent
Advise the use of only gold, silver or platinum studs in future
Infected ear lobe
This is a common cause of discomfort.
17 Symptoms include fullness in the ear, pain of various
levels and impairment of hearing. The most common causes of dysfunction are disorders causing
oedema of the tubal lining, such as viral URTI and allergy when the tube is only partially
blocked; swallowing and yawning may elicit a crackling or popping sound. Examination reveals
retraction of the TM and decreased mobility on pneumatic otoscopy. The problem is usually
transient after a viral URTI.
Eustachian tube dysfunction
Treatment
Systemic and intranasal decongestants (e.g. pseudoephedrine or corticosteroids in allergic
patients)
Autoinflation by forced exhalation against closed nostrils (avoid in active intranasal infection)
Avoid air travel, rapid altitude change and underwater diving
Eustachian tube dysfunction
a is damage caused by undergoing rapid changes in atmospheric pressure in the
presence of an occluded Eustachian tube (see FIG. 39.15 ). It affects scuba divers and aircraft
travellers.
Otic barotrauma
The symptoms include temporary or persistent pain or pressure in both ears, deafness, vertigo,
tinnitus and perhaps discharge.
Inspection of the TM may reveal (in order of seriousness): retraction; erythema; haemorrhage
(due to extravasation of blood into the layers of the TM); fluid or blood in the middle ear;
perforation. Perform conductive hearing loss tests with tuning fork.
Otic barotrauma
Treatment
Most cases are mild and resolve spontaneously in a few days, so treat with analgesics and
reassurance. Menthol inhalations are soothing and effective. Refer if any persistent problems for
consideration of the Politzer bag inflation or myringotomy.
Otic barotrauma
Prevention
Flying. Perform repeated Valsalva manoeuvres during descent. Use decongestant drops or sprays
before boarding the aircraft, and then 2 hours before descent.
Diving. Those with nasal problems, otitis media or chronic tubal dysfunction should not dive.
Otic barotrauma
A penetrating injury to the TM can occur in children and adults from various causes such as
pencils and slivers of wood or glass. Bleeding invariably follows and infection is the danger.
Penetrating injury to tympanic membrane
Management
Remove blood clot by suction toilet or gentle dry mopping
Ensure no FB is present
Check hearing
Prescribe a course of broad-spectrum antibiotics (e.g. cotrimoxazole)
Prescribe analgesics
Instruct the person not to let water enter ear
Review in 2 days and then regularly
At review in 1 month, the drum should be virtually healed
Check hearing 2 months after injury
Penetrating injury to tympanic membrane
Complete healing can be expected within 8 weeks in 90–95% of such cases.
Penetrating injury to tympanic membrane
If rheumatoid arthritis is excluded, a set of special exercises, which may include ‘chewing’ a
piece of soft wood over the molars, invariably solves this problem (see CHAPTER 41 ). If an
obvious dental malocclusion is present, referral is necessary.
Temporomandibular joint arthralgia
Incomplete resolution of acute otitis media
Persistent middle-ear effusion for 3 months after an attack of acute otitis media
Persistent apparent or proved deafness
Evidence or suspicion of acute mastoiditis or other severe complications
Frequent recurrences (e.g. four attacks a year)
Presence of craniofacial abnormalities
When to refer
Otitis media
Other ear problems
Attic perforation/cholesteatoma
FBs in ear not removed by simple measures such as syringing
No response to treatment after 2 weeks for otitis externa
Suspicion of carcinoma of the ear canal
Acute TM perforation that has not healed in 6 weeks
Chronic TM perforation (involving lower two-thirds of TM)
When to refer
The pain of acute otitis media may be masked by fever in babies and young
children.
A red TM is not always caused by otitis media. The blood vessels of the drum
head may be engorged from crying, sneezing or nose blowing. In crying babies,
the TM as well as the face may be red.
Pain in the ear (otalgia)
In otitis externa, most cases will resolve rapidly if the ear canal is expanded and
then cleaned meticulously.
If an adult presents with ear pain but normal auroscopy, examine possible referral
sites, namely TMJ, mouth, throat, teeth and cervical spine.
Pain in the ear (otalgia)
Consider mastoiditis if foul-smelling discharge is present over 7+ days.
Antibiotics have no place in the treatment of otic barotrauma.
Pain in the ear (otalgia)
It is good practice to make relief of distressing ear pain a priority. Adequate
analgesics must be given. There is a tendency to give too low a dose of
paracetamol in children. The installation of nasal drops in infants with a snuffy
nose and acute otitis media can indirectly provide amazing pain relief.
Spirit ear drops APF are a cheap and simple agent to use for recurrent otitis
externa where wetness of the ear canal is a persistent problem.
Pain in the ear (otalgia)
A red eye accounts for at least 80% of eye problems encountered in general practice.
1 An
accurate history combined with a thorough examination will permit the diagnosis to be made in
most cases without recourse to specialist ophthalmic equipment.
The red and tender eye
Acute conjunctivitis accounts for over 25% of all eye complaints seen in general
practice.
2
Viral conjunctivitis (compared to bacterial) is more common in adults, is usually
bilateral and discharge is more watery than purulent.
The red and tender eye
Viral conjunctivitis can be slow to resolve and may last for weeks.
Pain and visual loss suggest a serious condition such as glaucoma, uveitis
(including acute iritis) or corneal ulceration.
The red and tender eye
Beware of the unilateral red eye—think beyond bacterial or allergic conjunctivitis. It
is rarely conjunctivitis and may be a corneal ulcer, keratitis, foreign body, trauma,
uveitis or acute glaucoma
The red and tender eye
Keratitis (inflammation of the cornea) is one of the most common causes of an
uncomfortable red eye. Apart from the well-known viral causes (herpes simplex,
herpes zoster, adenovirus and measles), it can be caused by fungal infection
(usually on a damaged cornea), bacterial infection, protozoal infection or
inflammatory disorder such as ankylosing spondylitis
The red and tender eye
Herpes simplex keratitis (dendritic ulcer) often presents painlessly, as the
Page 483
neurotrophic effect grossly diminishes sensation.
The red and tender eye
The five essentials of the history are: history of trauma (including wood/metalwork—foreign body) vision the degree and type of discomfort presence of discharge presence of photophobia
The red and tender eye
The social and occupational history is also very important. This includes a history of exposure to
a ‘red eye’ at school, work or home; incidents at work such as injury, welding, foreign bodies or
chemicals; and genitourinary symptoms.
The red and tender eye
When examining the unilateral red eye, keep the following diagnoses in mind:
trauma
foreign body, including intra-ocular (IOFB)
corneal ulcer
iritis (uveitis)
viral conjunctivitis (commonest type)
acute glaucoma
The red and tender eye
The manner of onset of the irritation often gives an indication of the cause. Conjunctivitis or
uveitis generally has a gradual onset of redness, while a small foreign body will produce a very
rapid hyperaemia. Photophobia occurs usually with uveitis and keratitis. It is vital to elicit careful
information about visual acuity. The wearing of contact lenses is important as these are prone to
cause infection or the ‘overwear syndrome’, which resembles an acute ultraviolet (UV) burn.
The red and tender eye
The key eye symptoms The key eye symptoms are: itch irritation pain (with pus or watering) loss of vision (red or white eye) red = front of eye white = back of eye
The red and tender eye
Loss of vision in the red eye Consider: iritis (uveitis) scleritis acute glaucoma (pain; nausea and vomiting) chemical burns
The red and tender eye
Severe ocular pain Severe orbital pain Reduction ophthalmic or loss of vision Diplopia Dilated pupil Abnormal corneal signs Globe displacement Endophthalmitis Microbial keratitis ± contact lens use
Red eye red flags (urgent ophthalmic referral)
The painful red eye Causes to consider: foreign body keratitis uveitis (iritis) episcleritis scleritis acute glaucoma hypopyon (pus in the anterior chamber) endophthalmitis (inflammation of internal structures—may follow surgery) corneal abrasion/ulceration Pain with discharge: keratitis
The red and tender eye
Pain with photophobia:
uveitis
episcleritis
The red and tender eye
Examination
The basic equipment:
eye testing charts at 45 cm (18 in) and 300 cm (10 ft)
multiple pinholes
torch (and Cobalt blue or ultraviolet light)
magnifying aid (e.g. binocular loupe)
glass rod or cotton bud to aid eyelid eversion
The red and tender eye
fluorescein sterile paper strips anaesthetic drops ophthalmoscope Ishihara colour vision test tonometer (if available, e.g. Schiotz)
The red and tender eye
The four essentials of the examination are: testing and recording vision meticulous inspection under magnification testing the pupils testing ocular tension 4 Also: local anaesthetic test fluorescein staining subtarsal examination
The red and tender eye
A thorough inspection is essential, noting the nature of the inflammatory injection, whether it is
localised (episcleritis) or diffuse, viewing the iris for any irregularity, observing the cornea, and
searching for foreign bodies, especially under the eyelids, and for any evidence of penetrating
injury. No ocular examination is complete until the upper eyelid is everted and closely inspected.
Both eyes must be examined since many patients presenting with conjunctivitis in one eye will
have early signs of conjunctivitis in the other. Use fluorescein to help identify corneal ulceration.
Local anaesthetic drops instilled prior to the examination of a painful lesion are recommended.
The local anaesthetic test is a sensitive measure of a surface problem—if the pain is unrelieved a
deeper problem must be suspected.
The red and tender eye
Palpate for enlarged pre-auricular lymph nodes, which are characteristic of viral conjunctivitis.
The nature of the injection is important. In conjunctivitis the vessels are clearly delineated and
branch from the corners of the eye towards the cornea, since it involves mainly the tarsal plate.
Episcleral and scleral vessels are larger than conjunctival vessels and are concentrated towards
the cornea
The red and tender eye
Ciliary injection appears as a red ring around the limbus of the cornea (the ciliary flush), and the
individual vessels, which form a parallel arrangement, are not clearly visible. Ciliary injection
may indicate a more serious deep-seated inflammatory condition such as anterior uveitis or a
deep corneal infection. The presence of fine follicles on the tarsal conjunctivae indicates viral
infection while a cobblestone appearance indicates allergic conjunctivitis.
The red and tender eye
Investigations These include: Page 485 swab of discharge for micro and culture or for viral studies ESR/CRP imaging
The red and tender eye
Children can suffer from the various types of conjunctivitis (commonly), uveitis and trauma. Of
particular concern is orbital cellulitis, which may present as a unilateral swollen lid and can
rapidly lead to blindness if untreated. Bacterial, viral and allergic conjunctivitis are common in
all children. Conjunctivitis in infants is a serious disorder because of the immaturity of tissues
and defence mechanisms. Serious corneal damage and blindness can result.
Red eye in children
This is conjunctivitis in an infant less than 1 month old and is a notifiable disease. Chlamydial
and gonococcal infections are uncommon but must be considered if a purulent discharge is found
in the first few days of life.
3
In both conditions the parents must be investigated for associated
venereal infection and treated accordingly (this includes contact tracing)
Neonatal conjunctivitis (ophthalmia neonatorum)
Chlamydia trachomatis accounts for 50% or more of cases. Its presentation in neonates is acute,
usually 1–2 weeks after delivery, with moderate mucopurulent discharge. It is a systemic disease
and may be associated with pneumonia. The diagnosis is confirmed by PCR tests on the
conjunctival secretions.
Neonatal conjunctivitis (ophthalmia neonatorum)
Treatment is with azithromycin 20 mg/kg orally, daily for 3 days. Regular face washing and the
treatment of all household contacts is recommended.
Neonatal conjunctivitis (ophthalmia neonatorum)
Neisseria gonorrhoeae conjunctivitis, which usually occurs within 1–2 days of delivery, requires
vigorous treatment with intravenous cephalosporins or penicillin and local sulfacetamide drops.
The discharge is highly infectious and the organism has the potential for severe corneal infection
with perforation and blindness
7 or septicaemia.
Neonatal conjunctivitis (ophthalmia neonatorum)
Other common bacterial organisms can cause neonatal conjunctivitis, and herpes simplex virus
type II can cause conjunctivitis and/or eyelid vesicles or keratitis.
Neonatal conjunctivitis (ophthalmia neonatorum)
More than 6 million people worldwide have trachoma-caused blindness.
Trachoma is a chronic chlamydial conjunctivitis that is prevalent in the Aboriginal and Torres
Strait Islander population, particularly in dry, remote regions. C. trachomatis is usually
transmitted by human contact between children and parents and also by flies, especially where
hygiene is inadequate. It is the most common cause of blindness in the world. Recurrent and
untreated disease leads to lid scarring and inturned lashes (entropion) with corneal ulceration and
visual loss. It is important to commence control of the infection in childhood.
Trachoma
Treatment
Prevention/community education
Antibiotics—azithromycin
Surgical correction (where relevant)
Trachoma
Delayed development of the nasolacrimal duct occurs in about 6% of infants,
3
resulting in
blocked lacrimal drainage; the lacrimal sac becomes infected, causing a persistent discharge from
one or both eyes. In the majority of infants, spontaneous resolution of the problem occurs by the
age of 6 months.
Blocked nasolacrimal duct
Management
Bathing with normal saline
Frequent massage over the lacrimal sac
Referral for probing of the lacrimal passage before 6 months if the discharge is profuse and
irritating or between 6 and 12 months if the problem has not self-corrected (refer
CHAPTER 84 )
Reserve topical antibiotics for true secondary infection (uncommon)
Blocked nasolacrimal duct
Elderly people have an increased risk of acute glaucoma, uveitis and herpes zoster. Acute angle
closure glaucoma should be considered in anyone over the age of 50 presenting with an acutely
painful red eye.
Eyelid conditions such as blepharitis, trichiasis, entropion and ectropion are more common in the
elderly.
Red eye in the elderly
Acute conjunctivitis is defined as an episode of conjunctival inflammation lasting less than 3
weeks.
2 The two major causes are infection (either bacterial or viral) and acute allergic or toxic
reactions of the conjunctiva
Acute conjunctivitis
Be cautious of loss of vision, pain or photophobia—refer if appropriate.
The red and tender eye
Clinical features
Diffuse hyperaemia of tarsal or bulbar conjunctivae
Absence of ocular pain, good vision, clear cornea
Infectious conjunctivitis is usually bilateral (especially after the first day) with a discharge,
and a gritty or sandy sensation
Acute conjunctivitis
Bacterial infection may be primary, secondary to a viral infection or secondary to blepharitis.
History
Purulent discharge with sticking together of eyelashes in the morning is typical. It usually starts
in one eye and spreads to the other. There may be a history of contact with a person with similar
symptoms. The organisms are usually picked up from contaminated fingers, face cloths or
towels.
Bacterial conjunctivitis
Clinical features
Gritty red eye
Purulent discharge, usually without lymphadenopathy
Clear cornea
Bacterial conjunctivitis
There is usually a bilateral mucopurulent discharge with uniform engorgement of all the
conjunctival blood vessels and a non-specific papillary response (see FIG. 40.2 ). Fluorescein
staining is negative.
Bacterial conjunctivitis
Causative organisms These include: Streptococcus pneumoniae Haemophilus influenzae Staphylococcus aureus Streptococcus pyogenes N. gonorrhoeae (a hyperacute onset) Pseudomonas aeruginosa
Bacterial conjunctivitis
Diagnosis is usually clinical, but a swab should be taken for smear and culture with:
2
hyperacute or severe purulent conjunctivitis
prolonged infection
neonates
Bacterial conjunctivitis
Management
3
Limit the spread by avoiding close contact with others, use of separate towels and good ocular
hygiene. Clear away debris and mucus with saline solution before topical treatment. Exclude
serious causes and a foreign body.
Bacterial conjunctivitis
Mild cases
Mild cases may resolve with saline irrigation of the eyelids and conjunctiva but may last up to 14
days if untreated.
8 An antiseptic eye drop such as propamidine isethionate 0.1% (Brolene) 1–2
drops, 6–8 hourly for 5–7 days can be used. Cooled black tea is reportedly widely used in Middle
Eastern countries with good effect.
Bacterial conjunctivitis
More severe cases
Chloramphenicol 0.5% eye drops, 1–2 drops 2 hourly for 24 hours,
1 decrease to 4 times a day for
another 7 days (max. 10 days—cases of aplastic anaemia have been reported with long-term
use).
Also use chloramphenicol 1% eye ointment each night or, alternatively, framycetin 0.5% eye
drops, 1–2 drops every 1–2 hours for the first 24 hours, decreasing to 8 hourly until discharge
resolves for up to 7 days.
Note: Never pad a discharging eye.
Bacterial conjunctivitis
Brick-red eye—think of chlamydia
The red and tender eye
Specific organisms
Pseudomonas and other coliforms: use topical gentamicin and tobramycin. Chloromycetin
ineffective.
N. gonorrhoeae: use appropriate systemic antibiotics depending on sensitivity (use Gram stain
culture and PCR). Use ceftriaxone or cefotaxime 1 g IM or IV as a single dose (adults).
3
Chlamydia trachomatis—may be sexually transmitted (a full STI screen is advisable). Differs
from trachoma-causing strains. Shows a brick-red follicular conjunctivitis with a stringy
mucus discharge. Treatment is with azithromycin.
Bacterial conjunctivitis
The most common cause of this very contagious condition is adenovirus.
History
Page 488
It is commonly associated with URTIs and is the type of conjunctivitis that occurs in epidemics
(pink eye).
1 The conjunctivitis usually has a 2–3 week course; it is initially one-sided but with
cross-infection occurring days later in the other eye. It can be a severe problem with a very
irritable, watering eye.
Viral conjunctivitis
The examination should be conducted with gloves. It is usually bilateral with diffuse
conjunctival infection and productive of a scant watery discharge. Viral infections typically but
not always produce a follicular response in the conjunctivae (tiny, pale lymphoid follicles) and
an associated pre-auricular lymph node (see FIG. 40.3 ). Subconjunctival haemorrhages may
occur with adenovirus infection. High magnification, ideally a slit lamp, may be necessary to
visualise some of the changes, such as small corneal opacities, follicles and keratitis.
Viral conjunctivitis
Diagnosis is based on clinical grounds and a history of infected contacts. Viral culture
and serology can be performed to identify epidemics.
Viral conjunctivitis
Treatment
Limit cross-infection by appropriate rules of hygiene and patient education.
Treatment is symptomatic—cool compress or saline bathing, possibly with topical lubricants
(artificial tear preparations) or vasoconstrictors (e.g. phenylephrine).
Do not pad; avoid bright light.
Watch for secondary bacterial infection. Avoid corticosteroids, which reduce viral shedding
and prolong the problem.
Viral conjunctivitis
This viral infection produces follicular conjunctivitis. About 50% of patients have associated lid
or corneal ulcers/vesicles, which are diagnostic.
2
Dendritic ulceration highlighted by fluorescein staining is diagnostic (see FIG. 40.4 ). Antigen
detection or culture may allow confirmation.
Primary herpes simplex infection
Treatment (herpes simplex keratitis)
Attend to eye hygiene
Aciclovir 3% ointment, five times a day for 14 days or for at least 3 days after healing
3
Atropine 1% 1 drop, 12 hourly, for the duration of treatment will prevent reflex spasm of the
pupil (specialist supervision)
Debridement by an ophthalmologist
Never use corticosteroids, and refer all new cases early to an ophthalmologist.
Primary herpes simplex infection
Chlamydial conjunctivitis is encountered in three common situations:
neonatal infection (first 1–2 weeks)
young patient with associated venereal infection
isolated Aboriginal and Torres Strait Islander people with trachoma
Chlamydial conjunctivitis
Take swabs for culture and PCR testing.
Systemic antibiotic treatment:
8
neonates: azithromycin 20 mg/kg orally, daily for 3 days
3
children over 6 kg and adults: azithromycin 1 g (o) as single dose
Note: Treat contacts in cases of STI.
Chlamydial conjunctivitis
Allergic conjunctivitis results from a local response to an allergen. It includes:
vernal (hay fever) conjunctivitis
contact hypersensitivity reactions, e.g. reaction to preservatives in drops
Allergic conjunctivitis
This is usually seasonal and related to pollen exposure, particularly in younger people. There is
usually associated rhinitis
Vernal (hay fever) conjunctivitis
Treatment
3
Tailor treatment to the degree of symptoms. Artificial tear preparations may give adequate
symptomatic relief. Oral antihistamines may be required but topical measures usually suffice.
Eye drop options:
1. Medications with both antihistamine and mast cell stabilising properties
ketotifen or olopatadine twice daily, or azelastine 2–4 times daily
Vernal (hay fever) conjunctivitis
Mast cell stabilisers
cromoglycate or lodoxamide 4 times daily
3. Antihistamines
levocabastine 2–3 times daily
4. Topical corticosteroids (severe cases, should refer)
Avoid vasoconstrictors (e.g. naphazoline, tetryzoline).
Vernal (hay fever) conjunctivitis
Common topical allergens and toxins include topical ophthalmic medications, especially
Page 489
antibiotics, contact lens solutions (often the contained preservative) and a wide range of
cosmetics, soaps, detergents and chemicals. Clinical features include burning, itching and
watering with hyperaemia and oedema of the conjunctiva and eyelids. A skin reaction of the lids
usually occurs.
Contact hypersensitivity
Treatment Withdraw the causative agent. Apply normal saline compresses. Treat with naphazoline or phenylephrine. If not responding, refer for possible corticosteroid therapy.
Contact hypersensitivity
which appears spontaneously, is a beefy red localised
haemorrhage with a definite posterior margin (see FIG. 40.5 ). If it follows trauma and extends
backwards, it may indicate an orbital fracture. It is usually caused by a sudden increase in
intrathoracic pressure such as coughing and sneezing. It is not related to hypertension but it is
worthwhile measuring the blood pressure to help reassure the patient.
Subconjunctival haemorrhage
Management
No local therapy is necessary. The haemorrhage absorbs over 2 weeks. Patient explanation and
reassurance is necessary (‘a highly visible minor bruise’). If haemorrhages are recurrent, a
bleeding tendency should be excluded.
Subconjunctival haemorrhage
present as a localised area of inflammation (see FIGS 40.1 and
40.6 ). The episclera is a vascular layer that lies just beneath the conjunctiva and adjacent to
the sclera. Both may become inflamed, but episcleritis (which is more localised) is essentially
self-limiting, while scleritis (which is rare) is more serious as the eye may perforate.
Episcleritis and scleritis
Both
conditions may be confused with inflammation associated with a foreign body, pterygium or
pinguecula. There are no significant associations with episcleritis, which is usually idiopathic,
but scleritis may be associated with connective tissue disease, especially rheumatoid arthritis and
herpes zoster and rarely sarcoidosis and tuberculosis.
Episcleritis and scleritis
Clinical features Episcleritis: no discharge no watering vision normal (usually) often sectorial usually self-limiting Treat with topical or oral steroids.
Episcleritis and scleritis
Scleritis:
painful loss of vision
urgent referral
Episcleritis and scleritis
An underlying cause such as an autoimmune condition should be identified. Refer the patient,
especially for scleritis. Corticosteroids or NSAIDs may be prescribed.
Episcleritis and scleritis
The iris, ciliary body and the choroid form the uveal tract, which is the vascular coat of the
eyeball.
Uveitis (iritis)
Anterior uveitis (acute iritis or iridocyclitis) is inflammation of the iris and ciliary body and this
is usually referred to as acute iritis (see FIG. 40.7 ). The iris is sticky and sticks to the lens. The
pupil may become small because of adhesions, and the vision is blurred.
Uveitis (iritis)
Causes include autoimmune-related diseases such as the seronegative arthropathies (e.g.
ankylosing spondylitis), SLE, IBD, sarcoidosis and some infections (e.g. toxoplasmosis and
syphilis).
Uveitis (iritis)
Clinical features Eye redness, esp. around the edge of the iris Eye discomfort or pain Increased tearing Blurred vision Sensitivity to light Floaters in the field of vision Small pupil
Uveitis (iritis)
The examination findings are summarised in TABLE 40.2 . The affected eye is red, with the
infection being particularly pronounced over the area covering the inflamed ciliary body (ciliary
flush). However, the whole bulbar conjunctivae can be infected. The patient should be referred to
a consultant. Slit lamp examination aids diagnosis.
Uveitis (iritis)
Management involves finding the underlying cause. Treatment includes pupil dilatation with
atropine drops and topical steroids to suppress inflammation. Systemic corticosteroids may be
Page 491
necessary. The prognosis of anterior uveitis is good if treatment and follow-up are maintained,
but recurrence is likely.
Uveitis (iritis)
Posterior uveitis (choroiditis) may involve the retina and vitreous membrane. Blurred vision and floating opacities in the visual field may be the only symptoms. Pain is not a feature. Referral to detect the causation and for treatment is essential.
Uveitis (iritis)
should always be considered in a patient over 50 years presenting with an
acutely painful red eye. Permanent damage will result from misdiagnosis. The attack
characteristically strikes in the evening or early morning when the pupil becomes semidilated.
Acute glaucoma
Clinical features Patient >50 years Pain in one eye ± Nausea and vomiting Impaired vision Haloes around lights Hazy cornea Fixed semidilated pupil Eye feels hard
Acute glaucoma
Management
Urgent ophthalmic referral is essential since emergency treatment is necessary to preserve the
eyesight. If immediate specialist attention is unavailable, treatment can be initiated with
acetazolamide (Diamox) 500 mg IV and pilocarpine 4% drops to constrict the pupil or pressurelowering drops.
Acute glaucoma
Dry eyes are a common problem, especially in elderly women. Lack of lacrimal secretion can be
functional (e.g. ageing), or due to systemic disease (e.g. rheumatoid arthritis, SLE, Sjögren
syndrome), drugs (e.g. β-blockers) or other factors, including menopause. Up to 50% of patients
with severe dry eye have Sjögren syndrome.
Keratoconjunctivitis sicca
Clinical features
A variety of symptoms
Dryness, grittiness, stinging and redness
Sensation of foreign body (e.g. sand)
Photophobia if severe
Slit light examination diagnostic with special stains
Keratoconjunctivitis sicca
Treatment
Treat the cause.
Bathe eyes with clean water.
Use artificial tears: hypromellose (e.g. Tears Naturale), polyvinyl alcohol (e.g. Tears Plus).
Be cautious of adverse topical reactions.
Refer severe cases.
Keratoconjunctivitis sicca
There are several inflammatory disorders of the eyelid and lacrimal system that present as a ‘red
and tender’ eye without involving the conjunctiva. Any suspicious lesion should be referred.
Eyelid and lacrimal disorders
is an acute abscess of a lash follicle or associated glands of the anterior lid margin, caused
usually by S. aureus. The patient complains of a red tender swelling of the lid margin, usually on
the medial side (see FIG. 40.8 ). A stye may be confused with a chalazion, orbital cellulitis or
dacryocystitis.
Stye (external hordeolum)
Management
Use heat to help it ‘point’ and discharge by using direct steam from a thermos (see
FIG. 40.9 ) onto the enclosed eye or by hot-water compresses.
If fluctuant and pointing, perform lash epilation to allow drainage of pus (incise with a size 11
blade if epilation does not work). Squeezing is discouraged.
Do not use antibiotics (topical or oral) unless secondary spread (cellulitis).
Stye (external hordeolum)
Also known as an internal hordeolum, this granuloma of the meibomian gland in the eyelid may
become inflamed and present as a tender irritating lump in the lid. Look for evidence of
blepharitis. Differential diagnoses include sebaceous gland carcinoma and basal cell carcinoma
Chalazion (meibomian cyst)
Management
Conservative treatment may result in resolution. This involves heat either as steam from a
thermos or by applying a hot compress (a hand towel soaked in hot water) followed by light
massage. If the chalazion is very large, persistent or uncomfortable, or is affecting vision, it can
be incised and curetted under local anaesthesia. This is best performed through the inner
conjunctival surface using a chalazion clamp (blepharostat)
Chalazion (meibomian cyst)
Meibomianitis is usually a staphylococcal micro-abscess of the gland, and oral
antistaphylococcal antibiotics (not topical) are recommended (e.g. di/flucloxacillin 500 mg (o) 6
hourly for adults). Surgical incision and curettage may also be necessary.
Chalazion (meibomian cyst)
This common chronic condition of the eyelids may involve inflammation of the lid margins
(anterior blepharitis) which is commonly associated with secondary ocular effects such as styes,
chalazia and conjunctival or corneal ulceration (see FIG. 40.11 ).
Blepharitis
Posterior blepharitis, which
involves abnormalities of the submucus meibomian glands at the rim of the eyelids, is frequently
associated with seborrhoeic dermatitis (especially) and atopic dermatitis, and less so with
rosacea.
8 There is a tendency to colonisation of the lid margin with S. aureus, which causes an
ulcerative infection. May have lash loss and trichiasis if chronic.
Blepharitis
The two types are:
anterior blepharitis—staphylococcal
posterior blepharitis—seborrhoeic (mainly) and rosacea
Blepharitis
Clinical features
9
Persistent sore eyes or eyelids
Irritation, grittiness, burning, dryness and ‘something in the eye’ sensation, worse in mornings
Lid or conjunctival swelling and redness
Crusts or scales around the base of the eyelids
Discharge or stickiness, especially in morning
Inflammation and crusting of the lid margins
Blepharitis
Management
Anterior blepharitis
Eyelid hygiene is the mainstay of therapy. The crusts and other debris should be gently
cleaned with a cotton wool bud dipped in a 1:10 dilution of baby shampoo or a solution of
sodium bicarbonate, once or twice daily. Application of a warm water compress or saline soak
with gauze for 5 minutes is also effective. Proprietary lid solutions or wipes can also be used.
If not controlled, apply chloromycetin 1% ointment once or twice daily for up to 4 weeks and
review. Refer resistant cases.
Blepharitis
Posterior blepharitis
Follow the same hygiene methods as above but with firm eye massage in a circular motion
towards the lid margins to closed eyes, for 5–10 minutes twice a day.
Ocular lubricants such as artificial tear preparations may greatly relieve symptoms of
keratoconjunctivitis sicca (dry eyes).
Control scalp seborrhoea with regular medicated shampoos.
Blepharitis
If persistent, short-term use of a mild topical corticosteroid ointment (e.g. hydrocortisone
0.5%) can be effective.
Treat infection with an antibiotic ointment smeared on the lid margin (this may be necessary
Page 493
for several months) (e.g. tetracycline hydrochloride 1% or framycetin 0.5% or
chloramphenicol 1% ointment to lid margins 3–6 hourly).
Blepharitis
If not controlled by topical measures, use systemic antibiotics such as doxycycline 50 mg
daily for at least 8 weeks (erythromycin for children <8 years), or flucloxacillin may be
required for lid abscess.
Avoid wearing make-up and contact lenses if inflammation is present.
Blepharitis
is infection of the lacrimal drainage system secondary to obstruction of the
nasolacrimal duct at the junction of the lacrimal sac (see FIG. 40.12 ). Inflammation is localised
over the medial canthus. There is usually a history of a watery eye for months beforehand. The
problem may vary from being mild (as in infants) to severe with abscess formation.
Acute dacryocystitis
Management
Use local heat: steam or a hot moist compress.
Use analgesics.
In mild cases, massage the sac and duct with warm compresses, and instil astringent drops
(e.g. zinc sulphate + phenylephrine) or chloramphenicol 0.5% eye drops if inflammation.
Acute dacryocystitis
For acute cases, systemic antibiotics are best guided by results of Gram stain and culture but
initially use di/flucloxacillin or cephalexin.
Measures to establish drainage are required eventually. Recurrent attacks or symptomatic
watering of the eye are indications for surgery such as dacryocystorhinostomy
Acute dacryocystitis
is infection of the lacrimal gland presenting as a tender swelling on the outer
upper margin of the eyelid. It may be acute or chronic and has many causes. It is usually caused
by a viral infection (e.g. mumps), which is treated conservatively with warm compresses.
Bacterial infection is treated with appropriate antibiotics.
Dacryoadenitis
includes two basic types—peri-orbital (or preseptal), which is soft tissue
infection of the eyelids, and orbital (or postseptal) cellulitis
Orbital cellulitis
The latter, which arises from
infection of the paranasal sinus, dental abscess or orbital trauma, is a potentially blinding and
life-threatening condition. It is especially important in children in whom blindness may develop
in hours. The patient, often a child, presents with unilateral swollen eyelids that may be red. Ask
about a history of sinusitis, peri-ocular trauma, surgery, bites and immunocompromise issues.
Orbital cellulitis
Features to look for in orbital cellulitis include: 6 a systemically unwell patient proptosis peri-ocular swelling and erythema tenderness over the sinuses ocular nerve compromise (reduced vision, impaired colour vision or abnormal pupils) restricted and painful eye movements
Orbital cellulitis
In peri-orbital cellulitis, which usually follows an abrasion, there is no pain or restriction of eye
movement
Orbital cellulitis
Immediate referral to hospital for specialist treatment is essential for both types. Treatment is
usually with IV cefotaxime until afebrile, then amoxicillin/clavulanate for 7–10 days for periorbital cellulitis and for orbital cellulitis, IV cefotaxime + flucloxacillin together followed by
amoxicillin/clavulanate (o) 10 days.
Orbital cellulitis
(shingles) affects the skin supplied by the ophthalmic division of the
trigeminal nerve. The eye may be affected if the nasociliary branch is involved. The rash usually
appears on the tip of the nose. Ocular problems include conjunctivitis, uveitis, keratitis and
glaucoma.
Herpes zoster ophthalmicus
Immediate referral is necessary if the eye is red, vision is blurred or the cornea cannot be
examined. Apart from general eye hygiene, treatment usually includes one of the oral antiherpes
virus agents such as oral aciclovir 800 mg, five times daily for 10 days or (if sight is threatened)
aciclovir 10 mg/kg IV slowly 8 hourly for 10 days (provided this is commenced within 3 days of
the rash appearing)
5,8 and topical aciclovir ointment 4 hourly
Herpes zoster ophthalmicus
Pinguecula is a yellowish elevated nodular growth on either side of the cornea in the area of the
palpebral fissure. It is common in people over 35 years. The growth tends to remain static but
Table 40.3
can become inflamed—pingueculitis
Pinguecula and pterygium10
Usually no treatment is necessary unless they are large,
craggy and uncomfortable, when excision is indicated. If irritating, topical astringent drops such
as naphazoline compound drops (e.g. Albalon) can give relief.
Pinguecula and pterygium
Pterygium is a fleshy overgrowth of the conjunctiva onto the nasal side of the cornea and usually
occurs in adults living in dry, dusty, windy areas. Excision of a pterygium by a specialist is
indicated if it is likely to interfere with vision by encroaching on the visual axis, or if it becomes
red and uncomfortable or disfiguring.
Pinguecula and pterygium
Patients with corneal conditions typically suffer from ocular pain or discomfort and reduced
vision. The common condition of dry eye may involve the cornea while contact lens disorders,
abrasions/ulcers and infection are common serious problems that threaten eyesight.
Corneal disorders
Inflammation
of the cornea—keratitis—is caused by factors such as UV light, e.g. ‘arc eye’, herpes simplex,
herpes zoster ophthalmicus and the dangerous microbial keratitis. Bacterial keratitis is an
ophthalmological emergency that should be considered in the contact lens wearer presenting with
pain and reduced vision.
Corneal disorders
Topical corticosteroids should be avoided in the undiagnosed red eye.
Corneal disorders
There are many causes of abrasions, particularly trauma from a foreign body embedded on the
corneal surface or ‘cul-de-sac’ FB, contact lenses, fingernails including ‘french nails’, and UV
burns. The abrasion may be associated with an ulcer, which is a defect in the epithelial cell layer
of the cornea.
Corneal abrasion and ulceration
Trauma
Contact lens wear/injury
Infection—microbial keratitis:
bacterial (e.g. Pseudomonas [contact lens])
viral (e.g. herpes simplex [dendritic ulcer], herpes zoster ophthalmicus)
fungal
protozoal (e.g. Acanthamoeba)
Neurotrophic (e.g. trigeminal nerve defect)
Immune-related (e.g. rheumatoid arthritis)
Spontaneous corneal erosion
Chronic blepharitis
Overexposure (e.g. eyelid defects)
Corneal ulceration: common causes
Symptoms Ocular pain Foreign body sensation Watering of the eye (epiphora) Blepharospasm Blurred vision Diagnosis is best performed using fluorescein staining, ideally with a slit lamp and a cobalt blue filter, or use an ultraviolet light (small LED UV lights can replace the traditional Wood’s lamp).
Corneal abrasion and ulceration
Management (corneal ulcer) Stain with fluorescein. Check for a foreign body. Treat with chloramphenicol 1% ointment qid ± homatropine 2% (if pain due to ciliary spasm). Double eye pad (if not infected). Review in 24 hours. A 6 mm defect heals in 48 hours. Consider early specialist referral.
Corneal abrasion and ulceration
Punctate keratopathy presents as scattered small lesions on the cornea that stain with fluorescein
if they are deep enough. It is a non-specific finding and may be associated with blepharitis, viral
conjunctivitis, trachoma, keratitis sicca (dry eyes), UV light exposure (e.g. welding lamps,
sunlamps), contact lenses and topical ocular agents. Management involves treating the cause and
careful follow-up.
Superficial punctate keratitis
Think corneal abrasion if the eye is ‘watering’ and painful (e.g. caused by a large
insect such as a grasshopper or other foreign body).
Practice tips
If a slit lamp is unavailable, the direct ophthalmoscope and a magnifying loupe
can be used to view the cornea, but the standard blue light does not cause
fluorescence; use a UV light instead.
Practice tips
This is responsible for at least 1.5 million new cases of blindness every year in the developing
world and for significant morbidity in developed countries. It is a sight-threatening emergency.
Microbial keratitis
Risk factors Contact lens wear Corneal trauma, especially agriculture trauma Corneal surgery Postherpetic corneal lesion Dry eye Corneal anaesthetic Corneal exposure (e.g. VII nerve lesion) Ocular surface disease, including ulceration
Microbial keratitis
Pseudomonas aeruginosa is the most common causative organism in contact lens wearers.
Acanthamoeba is associated with bathing or washing in contaminated water.
Urgent referral to an ophthalmologist or eye clinic is needed to avoid rapid corneal destruction
with perforation, especially with bacterial keratitis. An appropriate ‘covering’ topical antibiotic is
ciprofloxacin 0.3% or ofloxacin 0.3% eye drops.
Microbial keratitis
Because a contact lens is a foreign body, various complications can develop and a history of the
use of contact lenses is important in the management of a red eye.
Problems with contact lenses
Infection
Infection is more likely to occur with soft rather than hard lenses. They should not be worn when
sleeping since this increases the risk of infection 10-fold.
12 One cause is Acanthamoeba keratitis
acquired from contaminated water that may be used for cleaning the lenses.
Problems with contact lenses
Hard lens trauma
This may cause corneal abrasions with irreversible endothelial changes or ptosis, especially with
the older polymethyl-methacrylate-based lenses. Recommend patient should change to modern
gas-permeable hard lenses.
Problems with contact lenses
Lost lenses
Patients should be reassured that lenses cannot go behind the eye. The edge of the lens can
usually be seen by everting the upper lid.
Problems with contact lenses
Preventive measures
13
Wash hands before handling lenses.
Do not use tap water or saline.
Clean lenses with disinfecting solution.
Store overnight in a clean airtight case with fresh disinfectant.
Change the lens container solution daily.
Discard disposable lenses after 2 weeks.
Do not wear lenses while sleeping.
Do not wear lenses while swimming in lakes, rivers or swimming pools.
Refer to an ophthalmologist if a painful red eye develops, especially if a discharge is present
Problems with contact lenses
A common problem, usually presenting at night, is bilateral painful eyes caused by UV ‘flash
burns’ to both corneas some 5–10 hours previously. The mechanism of injury is UV rays from a
welding machine causing superficial punctate keratitis. Other sources of UV light such as
sunlamps and snow reflection can cause a reaction
Flash burns
Management
Local anaesthetic (long-acting) drops: once-only application (do not allow the patient to take
home more drops).
Instil homatropine 2% drops statim or other short-acting ocular dilating agent (be careful of
glaucoma) or plain tear lubricants.
Use analgesics (e.g. codeine plus paracetamol) for 24 hours.
Flash burns
If severe, use chloramphenicol eye ointment in lower fornix (to prevent infection).
Use firm eye padding for 24 hours, when eyes reviewed (avoid light).
The eye usually heals completely in 48 hours. If not, check for a foreign body.
Note: Contact lens ‘overwear syndrome’ gives the same symptoms.
Flash burns
Such a fistula produces conjunctival hyperaemia but no inflammation or discharge. The lesion
causes raised orbital venous pressure. The fistula may be secondary to head injuries or may arise
spontaneously, particularly in postmenopausal women. It needs radiological investigation.
Cavernous sinus arteriovenous fistula
The classic symptom is a ‘whooshing’ sound synchronous with the pulse behind the eye, and the
sign is a bruit audible with the stethoscope placed over the orbit.
Cavernous sinus arteriovenous fistula
These require urgent referral to an ophthalmologist. Do not remove any foreign body.
Consider:
imaging: X-ray or CT scan
tetanus prophylaxis
transport by land (i.e. full atmospheric pressure)
injection of anti-emetic (e.g. metoclopramide)
Penetrating eye injuries
Use no ointment or eye drops, including local anaesthetic.
If significant delay is involved, give one dose (in adults) of:
8
gentamicin 1.5 mg/kg IV plus
cefotaxime 1 g or ceftriaxone 1 g IV (can give ceftriaxone IM but with lignocaine 1%)
or
vancomycin IV + oral ciprofloxacin
Penetrating eye injuries
a common blunt sporting injury, bleeding from the iris collects in the anterior
chamber of the eye (see FIG. 40.15 ). The danger is that, with exertion, a secondary bleed from
the ruptured vessel could fill the anterior chamber with blood, blocking the escape of aqueous
humour and causing a severe secondary glaucoma. Loss of the eye can occur with a severe
haemorrhage. It is likely to happen 2–4 days after the injury.
Hyphaema
Management
First, exclude a penetrating injury.
Avoid unnecessary movement: vibration will aggravate bleeding. (For this reason, do not use a
helicopter if evacuation is necessary.)
Avoid smoking and drinking alcohol.
Do not give aspirin (can induce bleeding).
Hyphaema
Prescribe complete bed rest for 5 days and review the patient daily.
Apply padding over the injured eye for 4 days.
Administer sedatives as required.
Beware of ‘floaters’, ‘flashes’ and field defects.
Arrange ophthalmic consultation after 1 month to exclude glaucoma and retinal detachment. No
sport before this time
Hyphaema
This is an intra-ocular bacterial infection that may complicate any penetrating injury, including
intra-ocular surgery. It should be considered in patients with such a history presenting with a red
painful eye. Pus may be seen in the anterior chamber (hypopyon).
Endophthalmitis
Urgent referral is mandatory. If significant delay, use ciprofloxacin (o) + vancomycin or
gentamicin IV as single doses.
Endophthalmitis
This has many causes and is more common in older people.
The main causes are drainage obstruction and excessive tear production, which includes physical
and chemical irritants, blepharitis and entropion. Management depends on the person’s age.
Remove any mucoid discharge and massage the nasolacrimal sac.
Epiphora (watering eyes)
Antibiotics are indicated only for conjunctivitis, blepharitis or dacryocystitis. Probing of the
ducts or even surgery may be required.
Epiphora (watering eyes)
Uncertainty about the diagnosis
Uveitis, acute glaucoma, episcleritis/scleritis or corneal ulceration
Deep central corneal and intra-ocular foreign bodies
When to refer
Prolonged infections, with a poor or absent response to treatment or where therapy may be
complicating management
Infections or severe allergies with possible ocular complications
Sudden swelling of an eyelid in a child with evidence of infection suggestive of orbital
cellulitis—this is an emergency
When to refer
Emergency referral is also necessary for hyphaema, hypopyon, penetrating eye injury, acute glaucoma, severe chemical burn Herpes zoster ophthalmicus: if the external nose is involved then the internal eye may be involved Summary for urgent referral: trauma (significant)/penetrating injury hyphaema >3 mm corneal ulcer severe conjunctivitis
When to refer
uveitis/acute iritis Behçet syndrome acute glaucoma giant cell arteritis orbital cellulitis (pre- and post-)
When to refer
acute dacryocystitis keratitis episcleritis/scleritis endophthalmitis herpes zoster ophthalmicus Note: As a general rule never use corticosteroids or atropine in the eye before referral to an ophthalmologist.
When to refer
Avoid long-term use of any medication, especially antibiotics (e.g.
chloramphenicol: course for a maximum of 10 days).
2
Note: Beware of allergy or toxicity to topical medications, especially antibiotics, as
a cause of persistent symptoms.
Practice tips
As a general rule, avoid using topical corticosteroids or combined
corticosteroid/antibiotic preparations.
Never use corticosteroids in the presence of a dendritic ulcer.
Practice tips
To achieve effective results from eye ointment or drops, remove debris such as
mucopurulent exudate with bacterial conjunctivitis or blepharitis by using a warm
solution of saline (dissolve a teaspoon of kitchen salt in 500 mL of boiled water) to
bathe away any discharge from conjunctiva, eyelashes and lids.
A gritty sensation is common in conjunctivitis but the presence of a foreign body
must be excluded.
6
Beware of the contact lens ‘overwear syndrome’, which is treated in a similar way
to flash burns.
Practice tips
Always test and record vision
Beware of the unilateral red eye
Conjunctivitis is almost always bilateral
Irritated eyes are often dry
Never use steroids if herpes simplex is suspected
Red eye golden rules
Never use steroids if herpes simplex is suspected
A penetrating eye injury is an emergency
Consider an intra-ocular foreign body
Beware of herpes zoster ophthalmicus if the nose is involved
Red eye golden rules
Irregular pupils: think iritis, injury and surgery
Never pad a discharging eye
Refer patients with eyelid ulcers
If there is a corneal abrasion look for a foreign body
Red eye golden rules
When someone complains of pain in the face rather than the head, the physician has to consider
foremost the possibilities of dental disorders, sinus disease, especially of the maxillary sinuses,
temporomandibular joint (TMJ) dysfunction, eye disorders, lesions of the oropharynx or
posterior third of the tongue, trigeminal neuralgia and chronic paroxysmal hemicrania.
Pain in the face
The key to the diagnosis is the clinical examination because even the most sophisticated
investigation may provide no additional information.
A basic list of causes of facial pain is presented in TABLE 41.1 .
1 The causes can vary from the
simple, such as aphthous ulcers, herpes simplex and dental caries, to serious causes, such as
carcinoma of the tongue, sinuses and nasopharynx or osteomyelitis of the mandible or maxilla.
Pain in the face
Positive physical signs Cervical spinal dysfunction Dental pathology Erysipelas Eye disorders Herpes zoster Nasopharyngeal cancer Oropharyngeal disorders: ulceration (aphthous, infective, traumatic, others) cancer gingivitis/stomatitis
Diagnoses to consider in orofacial pain
tonsillitis erosive lichen planus Paranasal sinus disorders Parotid gland: mumps sialectasis cancer pleomorphic adenoma TMJ dysfunction Temporal arteritis
Diagnoses to consider in orofacial pain
Absent physical signs Atypical facial pain Chronic paroxysmal hemicrania Depression-associated facial pain Facial migraine (lower half headache) Glossopharyngeal neuralgia Migrainous neuralgia (cluster headache) Trigeminal neuralgia (tic douloureux)
Diagnoses to consider in orofacial pain
Dental disorders are the commonest cause of facial pain, accounting for up to 90%
of pain in and about the face.
2
The most common dental disorders are dental caries and periodontal diseases.
orofacial pain
Dental pain is invariably localised to the dental region of the face.
The mean age of onset of trigeminal neuralgia is 50 years
orofacial pain
There is a similarity in the ‘occult’ causes of pain in the ear and in the face (refer to
FIGS 39.4 and 39.5 ).
Sinusitis occurs mainly as part of a generalised upper respiratory infection.
Swimming is another common predisposing factor.
Dental root infection must be sought in all cases of maxillary sinusitis.
orofacial pain
Probability diagnosis Dental pain: caries periapical abscess fractured tooth Maxillary/frontal sinusitis TMJ dysfunction
orofacial pain
Serious disorders not to be missed Cardiovascular: myocardial ischaemia aneurysm of cavernous sinus internal carotid aneurysm ischaemia of posterior inferior cerebellar artery Neoplasia: cancer: mouth, sinuses, nasopharynx, tonsils, tongue, larynx, salivary gland metastases: orbital, base of brain, bone Severe infections: herpes zoster erysipelas periapical abscess → osteomyelitis acute sinusitis → spreading infection Temporal arteritis
orofacial pain
Pitfalls (often missed) TMJ dysfunction Migraine variants: facial migraine chronic paroxysmal hemicrania Atypical facial pain Eye disorders: glaucoma
orofacial pain
iritis optic neuritis Chronic dental neuralgia (odontalgia) Salivary gland: infection, mumps, suppuration, calculus, obstruction, cancer Acute glaucoma (upper face) Cranial nerve neuralgias: trigeminal neuralgia glossopharyngeal neuralgia
orofacial pain
Seven masquerades checklist
Depression
Spinal dysfunction (cervical spondylosis)
Is the patient trying to tell me something?
Quite probably. Atypical facial pain has underlying psychogenic elements.
orofacial pain
The commonest cause of facial pain is dental disorders, especially dental caries. Another
common cause is sinusitis, particularly maxillary sinusitis.
TMJ dysfunction causing TMJ arthralgia is a very common problem encountered in
general practice and it is important to have some simple basic strategies to give the
patient.
orofacial pain
Persistent pain: no obvious cause
Unexplained weight loss
Trigeminal neuralgia: possible serious cause
Herpes zoster involving nose
Person >60 years: consider temporal arteritis, malignancy
orofacial pain
Red flag pointers for pain in the face
It is important not to overlook cancer of various structures, such as the mouth, sinuses,
nasopharynx, tonsils, tongue, larynx and parotid gland, which can present with atypical chronic
facial pain.
orofacial pain
It is important therefore to inspect these areas, especially in the elderly, but lesions in the
relatively inaccessible nasopharynx can be easily missed. Nasopharynx cancer spreads upwards
to the base of the skull early and patients can present with multiple cranial nerve palsies before
either pain or bloody nasal discharge.
orofacial pain
Tumours may arise in the bones of the orbit, for example, lymphoma or secondary cancer, and
may cause facial pain and proptosis. Similarly, any space-occupying lesion or malignancy arising
from the region of the orbit or base of the brain can cause facial pain by involvement (often
destruction) of trigeminal sensory fibres. This will lead to a depressed ipsilateral corneal reflex.
orofacial pain
Also, aneurysms developing in the cavernous sinus
1 can cause pain via pressure on any of the
divisions of the trigeminal nerve, while aneurysms from the internal carotid arising from the
origin of the posterior communicating artery can cause pressure on the oculomotor nerve.
Temporal arteritis typically causes pain over the temporal area but can cause ischaemic pain in
the jaws when chewing.
orofacial pain
Commonly overlooked causes of facial pain include TMJ arthralgia and dental disorders,
especially of the teeth, which are tender to percussion, and oral ulceration. Diagnosing the
uncommon migraine variants, particularly facial migraine and chronic paroxysmal hemicrania,
often presents difficulties, including differentiating between the neuralgias. Glossopharyngeal
neuralgia, which is rare, causes pain in the back of the throat, around the tonsils and adjacent
fauces. The lightning quality of the pain of neuralgia gives the clue to diagnosis.
orofacial pain
Common pitfalls
Failing to refer unusual or undiagnosed causes of facial pain
Overlooking infective dental causes, which can cause complications
Failing to consider the possibility of malignant disease of ‘hidden’ structures in the older
patient
Unaware that facial pain never crosses the midline
orofacial pain
Depressive illness can present with a variety of painful syndromes and facial pain is no
exception. The features of depression may be apparent and thus antidepressants should be
prescribed. Usually the facial pain and the depression subside concomitantly.
orofacial pain
Apart from trauma, facial pain in children is almost invariably due to dental problems, rarely
migraine variants and occasionally childhood infections such as mumps and gingivostomatitis. A
serious problem sometimes seen in children is orbital cellulitis secondary to ethmoiditis.
Facial pain in children
Sinusitis occurs in children, especially older children, and it should be suspected with persistent
pain and bilateral mucopurulent rhinorrhoea (beyond 10 days).
Facial pain in children
Many of the causes of facial pain have an increased incidence with age, in particular trigeminal
neuralgia, herpes zoster, cancer, glaucoma, TMJ dysfunction, sialolithiasis and cervical
spondylosis. Glossopharyngeal neuralgia does not seem to have a particular predilection for the
elderly.
Facial pain in the elderly
Xerostomia due to decreased secretions of salivary glands may cause abrasion with
minor trauma. It may aggravate the pain of glossitis, which is common in the elderly.
Facial pain in the elderly
This is a rapidly swelling cellulitis occurring in both the sublingual and submaxillary spaces
without abscess formation, often arising from a root canal infection. It resembles an abscess and
should be treated as one. It is potentially life-threatening as it can compromise the airway.
Ludwig angina
Management Culture and sensitivity testing Specialist consultation Empirical treatment: amoxicillin 2 g IV, 6 hourly plus metronidazole 500 mg IV, 12 hourly
Ludwig angina
Infection of the paranasal sinuses may cause localised pain. Localised tenderness and pain may
be apparent with frontal or maxillary sinusitis. Sphenoidal or ethmoidal sinusitis causes a
constant pain behind the eye or behind the nose, often accompanied by nasal blockage. Chronic
infection of the sinuses may be extremely difficult to detect.
Pain from paranasal sinuses
Chronic
infection of the sinuses may be extremely difficult to detect. The commonest organisms are
Streptococcus pneumoniae, Haemophilus influenzae and Moraxella catarrhalis.
Pain from paranasal sinuses
Expanding lesions of the sinuses, such as mucocoeles and tumours, cause local swelling and
displace the contents of the orbit—upwards for maxillary, laterally for the ethmoids and
downwards for the frontal.
Pain from paranasal sinuses
The maxillary sinus is the one most commonly infected.
5
It is important to determine whether the
sinusitis is caused by stasis following a URTI or acute rhinitis, or due to dental root infection.
Most episodes are of viral origin, and in the first few days this is indistinguishable from bacterial
infections.
Maxillary sinusitis
Clinical features (acute sinusitis) Facial pain and tenderness (over sinuses) Toothache Headache Purulent postnasal drip Nasal discharge Nasal obstruction Rhinorrhoea Cough (worse at night)
Maxillary sinusitis
Prolonged fever
Epistaxis
Suspect bacterial cause if high fever and purulent nasal discharge.
Maxillary sinusitis
Vague facial pain Offensive postnasal drip Nasal obstruction Toothache Malaise Halitosis
Clinical features (chronic sinusitis)
A simple way to assess the presence or absence of fluid in the frontal sinus, and in the maxillary
sinus (in particular), is the use of transillumination. It works best when one symptomatic side can
be compared with an asymptomatic side.
Diagnosing unilateral sinusitis
It is necessary to have the patient in a darkened room and to use a small, narrow-beam torch. For
the maxillary sinuses remove dentures (if any). Shine the light inside the mouth (with lips sealed,
and torch hygienically covered e.g. plastic bag), on either side of the hard palate, pointed at the
base of the orbit. A dull glow seen below the orbit indicates that the antrum is air-filled.
Diminished illumination on the symptomatic side indicates sinusitis.
Diagnosing unilateral sinusitis
In the first few days, viral and bacterial sinusitis are indistinguishable.
A CT scan may show mucosal thickening without fluid levels. Plain films are not indicated.
Diagnosing unilateral sinusitis
Principles
Exclude dental root infection.
Control predisposing factors.
Consider antibiotic therapy, but remember it is a self-limiting condition that has equal
outcomes at day 10 with or without antibiotics.
6 The ‘number needed to harm’ with antibiotic
side effects is unfavourable compared to the ‘number needed to treat’ with symptom
resolution.
Establish drainage by stimulation of mucociliary flow and relief of obstruction.
Management (acute bacterial sinusitis)
Guidelines for antibiotic therapy
Consider therapy for severe cases that fail to improve over the first 5–7 days and display at least
three of the following:
persistent mucopurulent nasal discharge (>7–10 days)
facial pain
poor response to decongestants
tenderness over the sinuses, especially maxillary
tenderness on percussion of maxillary molar and premolar teeth that cannot be attributed to by
a single tooth
Management (acute bacterial sinusitis)
Measures Analgesics Antibiotics (if indicated): 3 amoxicillin 500 mg (o) tds or 1 g (o) bd for 5 days or (if sensitive to penicillin) doxycycline 100 mg (o) bd for 5 days or cefuroxime 500 mg (o) tds for 5 days or amoxicillin + clavulanate 875/125 mg (o) tds for 5–10 days if poor response to above (indicates resistant H. influenzae) In complicated or severe disease, use intravenous cephalosporins or flucloxacillin
Management (acute bacterial sinusitis)
Nasal decongestants (oxymetazoline-containing nasal drops or sprays)
5
for 5 days (only if
congestion)
Inhalations (an important adjunct)
Nasal saline irrigation
Antihistamines and mucolytics are of no proven value. Cefuroxime is preferred to cephalexin or
cefaclor because of superior anti-pneumococcal activity.
Management (acute bacterial sinusitis)
Invasive methods
Surgical drainage may be necessary by atrial lavage or frontal sinus trephine.
Inhalations for sinusitis
The old method of towel over the head and inhalation bowl can be used, but it is better to direct
the vapour at the nose. Equipment needed is a container, which can be an old disposable bowl, a
wide-mouthed bottle or tin, or a plastic container. Guard against accidental burns.
For the inhalant, several household over-the-counter preparations are suitable such as Friar’s
Balsam (5 mL), Vicks VapoRub (1 teaspoon) or menthol (5 mL).
The cover can be made from a paper bag (with its base cut out), a cone of paper or a small
cardboard carton (with the corner cut away).
Management (acute bacterial sinusitis)
Method
1. Add 5 mL or 1 teaspoon of the inhalant to 0.5 L (or 1 pint) of boiled water in the container.
2. Place the paper or carton over the container.
3. Get the patient to apply nose and mouth to the opening and breathe in the vapour deeply and
slowly through the nose, and then out slowly through the mouth.
4. This should be performed for 5–10 minutes, three times a day, especially before retiring.
After inhalation, upper airway congestion can be relieved by autoinsufflation.
Management (acute bacterial sinusitis)
Chronic sinusitis (>12 weeks) or recurrent sinusitis may arise from chronic infection or allergy. It may be associated with nasal polyps and vasomotor rhinitis, but is frequently associated with a structural abnormality of the upper airways
Chronic sinusitis
It does not usually cause pain unless an acute infection intervenes. Initial measures are the same
as for allergic rhinitis;
6 use oral or intranasal antihistamine and add in an intranasal corticosteroid
(see CHAPTER 72 ). Nasal saline irrigation is a useful addition or alternative. After one month,
resistant cases (particularly those with nasal polyps) should be referred to a specialist. While
waiting, a temporary trial of oral prednisolone 25 mg may be reasonable. Surgical intervention
will benefit chronic recurrence with mechanical blockage
Chronic sinusitis
This condition is due to abnormal movement of the mandible, especially during chewing. The
basic causes are dental malocclusion and masticatory muscle dysfunction. Check for bruxism.
The pain is felt over the joint and tends to be localised to the region of the ear and mandibular
condyle, but it may radiate forwards to the cheek and even the neck.
TMJ dysfunction
Examination
Check for pain and limitation of mandibular movements, especially on opening the mouth.
Palpate about the joint bilaterally for tenderness, which typically lies immediately in front of
the external auditory meatus; palpate the temporalis and masseter muscles.
Palpate the TMJ over the lateral aspect of the joint disc.
Ask the patient to open the mouth fully when tenderness is maximal. The TMJ can be palpated
posteriorly by inserting the little finger into the external canal.
Check for crepitus in mandibular movement.
TMJ dysfunction
Management
If organic disease such as rheumatoid arthritis and obvious dental malocclusion is excluded, a
special set of instructions or exercises can alleviate the annoying problem of TMJ arthralgia in
about 3 weeks. Warm packs may help. Provide patient education advice and self-care.
TMJ dysfunction
Trigeminal neuralgia (tic douloureux) is a condition of often unknown cause that typically occurs
in patients over the age of 50, affecting the second and third divisions of the trigeminal nerve and
on the same side of the face. Brief paroxysms of pain, often with associated trigger points, are a
feature.
Trigeminal neuralgia
Clinical features
Site: sensory branches of the trigeminal nerve (see FIG. 41.5 ) almost always unilateral (often
right side)
Radiation: tends to commence in the mandibular division and spreads to the maxillary division
and (rarely) to the ophthalmic division
Quality: excruciating, searing jabs of pain like a burning knife or electric shock
Frequency: variable and no regular pattern
Trigeminal neuralgia
Duration: seconds to 1–2 minutes (up to 15 minutes)
Onset: spontaneous or trigger point stimulus
Offset: spontaneous
Precipitating factors: talking, chewing, touching trigger areas on face (e.g. washing, shaving,
eating), cold weather or wind, turning onto pillow
Trigeminal neuralgia
Aggravating factors: trigger points usually in the upper and lower lip, nasolabial fold or lower
eyelid (see FIG. 41.6 )
Relieving factors: nil
Associated features: rarely occurs at night; spontaneous remissions for months or years
Signs: there are no signs, normal corneal reflex
Trigeminal neuralgia
Causes Unknown Local pressure on the nerve root entry zone by tortuous pulsatile dilated small vessels (probably up to 75%) Multiple sclerosis Neurosyphilis Tumours of the posterior fossa Note: Precise diagnosis of a condition that can become a burdensome ‘label’ is important. MRI may be helpful.
Trigeminal neuralgia
Treatment
Patient education, reassurance and empathic support is very important in these patients.
Medical therapy
carbamazepine (from onset of the attack to resolution)
9 50 mg (elderly patient) or 100 mg (o)
bd initially; gradually increase the dose to avoid drowsiness every 7 days to 400 mg bd
Trigeminal neuralgia
Alternative drugs if carbamazepine not tolerated or ineffective (but question the diagnosis if lack
of response):
oxcarbazepine 300 mg bd
gabapentin 300 mg at night initially, increasing gradually to 600–1200 mg tds
lamotrigine 25 mg (o) alternate daily, slowly increasing every 14 days if necessary to
100 mg bd
phenytoin 300–500 mg daily
phenytoin 300 mg daily
baclofen 5 mg bd initially, increasing every 4 days up to 10–20 mg tds
Trigeminal neuralgia
Surgery
Refer to a neurosurgeon if medication ineffective
Possible procedures include:
decompression of the trigeminal nerve root (e.g. gel foam packing between the nerve and
Page 507
blood vessels)
neuroablative treatment, e.g. thermocoagulation/radiofrequency neurolysis
surgical division of peripheral branches
Trigeminal neuralgia
may rarely affect the face below the level of the eyes, causing pain in the area of the
cheek and upper jaw. It may spread over the nostril and lower jaw. The pain is dull and
throbbing, and nausea and vomiting are commonly present. The treatment is as for other varieties
of migraine with simple analgesics or ergotamine for infrequent attacks.
Facial migraine (lower half headache)
Herpes zoster may present as hyperaesthesia or a burning sensation in
any division of the fifth nerve, especially the ophthalmic division.
Herpes zoster and postherpetic neuralgia
Also known as persistent idiopathic facial pain, it is mainly a diagnosis of exclusion whereby
patients, usually middle-aged to elderly women, complain of diffuse pain in the cheek (unilateral
or bilateral) without demonstrable organic disease. The pain does not usually conform to a
specific nerve distribution (although in the maxillary area), varies in intensity and duration and is
not lancinating as in trigeminal neuralgia
Atypical facial pain
This may produce mild or severe unilateral or bilateral headache. There may be ischaemic pain
in the jaws when chewing. There may be marked scalp tenderness over the affected arteries. See
CHAPTER 21 for management.
Temporal arteritis
Classical erysipelas is a superficial form of cellulitis involving the face. It usually presents with
the sudden onset of butterfly erythema with a well-defined edge (see FIG. 41.7 ). It often starts
around the nose and there may be underlying sinus or dental infection which should be
investigated.
Erysipelas
There is an associated ‘flu-like’ illness and fever. It is invariably caused by
Streptococcus pyogenes. Treatment is by phenoxymethylpenicillin or di/flucloxacillin for 7–10
days.
Erysipelas
When to refer
Severe trigeminal or glossopharyngeal neuralgia
Unusual facial pain, especially with a suspicion of malignancy
Continuing pain of uncertain cause
Positive neurological signs, such as impaired corneal reflex, impaired sensation in a trigeminal
dermatome, slight facial weakness, hearing loss on the side of the neuralgia
orofacial pain
Possible need for surgical drainage of sinusitis—indications for surgery include failure of
appropriate medical treatment, anatomical deformity, polyps, uncontrolled sinus pain
5
Dental root infection causing maxillary sinusitis
Other dental disorders
orofacial pain
Malignancy must be excluded in the elderly with facial pain.
Problems from the molar teeth, especially the third (wisdom), commonly present
with peri-auricular pain without aural disease and pain in the posterior cheek.
orofacial pain
Facial pain never crosses the midline; bilateral pain means bilateral lesions.
13
If no obvious cause of persistent pain, refer to exclude sinister cause: don’t
overdiagnose sinusitis.
orofacial pain
Fever plays an important physiological role in the defence against infection.
Normal body temperature (measured orally mid-morning) is 36–37.2°C (average
36.8°C).
Fever and chills
Fever can be defined as an early-morning (6 am) maximal oral temperature
>37.2°C or a temperature >37.8°C at other times of the day, typically 4 pm.
2
Oral temperature is about 0.4°C lower than core body temperature.
Axillary temperature is 0.5°C lower than oral temperature
Fever and chills
Rectal, vaginal and ear drum temperatures are 0.5°C higher than oral and reflect
core body temperature.
There can be a normal diurnal variation of 0.5–1°C.
Fevers due to infections have an upper limit of 40.5–41.1°C.
Fever and chills
Hyperthermia (temperature above 41.1°C) and hyperpyrexia appear to have no
upper limit.
Infection remains the most important cause of acute fever
Fever and chills
Symptoms associated with fever include sweats, chills, rigors and headache.
Causes of fever besides infections include malignant disease, mechanical trauma
(e.g. crush injury), vascular accidents (e.g. infarction, cerebral haemorrhage),
immunogenic disorders (e.g. drug reactions, SLE), acute metabolic disorders (e.g.
gout), and haemopoietic disorders (e.g. acute haemolytic anaemia).
Fever and chills
Drugs can cause fever, presumably because of hypersensitivity.
3
Important
examples are allopurinol, antihistamines, barbiturates, cephalosporins, cimetidine,
methyldopa, penicillins, isoniazid, quinidine, phenolphthalein (including laxatives),
phenytoin, procainamide, salicylates and sulfonamides.
Drug fever should abate by 48 hours after discontinuation of the drug.
Fever and chills
Infectious diseases at the extremes of age (very young and aged)
3 often present
with atypical symptoms and signs. Their condition may deteriorate rapidly.
Overseas travellers or visitors may have special, even exotic infections and require
special evaluation
Fever and chills
Immunologically compromised patients (e.g. those with AIDS) pose a special risk
for infections, including opportunistic infections.
A febrile illness is characteristic of the acute infection of HIV: at least 50% have an
illness that presents like glandular fever.
Fever and chills
Chills/rigors 2 The abrupt onset of fever with a chill or rigor is a feature of some diseases. Examples include: bacteraemia/septicaemia pneumococcal pneumonia pyogenic infection with bacteraemia
Fever and chills
lymphoma
pyelonephritis
visceral abscesses (e.g. perinephric, lung)
malaria
Fever and chills
biliary sepsis (Charcot triad—jaundice, right hypochondrial pain, fever/rigors)
Features of a true chill are teeth chattering and bed shaking, which is quite different
from the chilly sensations that occur in almost all fevers, particularly those in viral
infections. The event lasts 10–20 minutes.
Fever and chills
Other features:
shaking cannot be stopped voluntarily
absence of sweating
cold extremities and pallor (peripheral vascular shutdown)
dry mouth and pilo-erection: lasts 10–20 minutes
Fever and chills
Hyperthermia or hyperpyrexia is a temperature greater than 41.1°C. A more accurate definition
is a state when the body’s metabolic heat production or environmental heat load exceeds normal
heat loss capacity. Hyperthermia may be observed particularly in the tropics, in malaria and
heatstroke. It can occur with CNS tumours, infections or haemorrhages because of their effect on
the hypothalamus.
Hyperthermia
This is the sudden onset of hot, dry, flushed skin with a rapid pulse, temperature above 40°C, and
confusion or altered conscious state in a person exposed to a very hot environment. The BP is
usually not affected initially but circulatory collapse may precede death. It is a life-threatening
emergency. The diagnosis is clinical. Differential diagnoses include severe acute infection, toxic
shock, food, chemical and drug poisoning. The elderly and debilitated are susceptible, as are
children left in cars.
Heatstroke (sunstroke, thermic fever)
Treatment
Immediate effective cooling water applied to skin—cool sprays, fanning
Icepacks at critical points (e.g. axillae, neck, head)
Full body immersion works, but caution in sick people
Aim to bring down temperature by 1°C every 10 minutes
Heatstroke (sunstroke, thermic fever)
This is a rare hereditary disorder characterised by rapidly developing hyperpyrexia, muscular
rigidity and acidosis in patients undergoing major surgery.
Malignant hyperthermia
is a heat loss mechanism, and diffuse sweating that may soak clothing and bedclothing
permits rapid release of heat by evaporation. In febrile patients the skin is usually hot and dry—
sweating occurs in most when the temperature falls. It is characteristic of only some fevers (e.g.
septic infections and rheumatic fever).
Sweats
This is fever usually with a temperature ≥38°C in a patient with neutrophils <0.5 × 10
9
/L. It is a
common complication of people undergoing cancer therapy. If possible, the pathogen should be
identified and broad-spectrum antibiotics initiated urgently. Refer to the appropriate hospital or
specialist service.
Febrile neutropenia
This is often confused with ‘malignant’ hyperthermia and heat stroke. The syndrome includes
high temperature, muscle rigidity, autonomic dysfunction and altered consciousness. It is a rare
and potentially lethal reaction in patients taking antipsychotic drugs, particularly occurring with
haloperidol alone or with other drugs, especially lithium carbonate
Neuroleptic malignant syndrome
This is fever occurring within 24 hours after surgery—common with abdominal surgery.
Postoperative fever
Causes to consider: pulmonary atelectasis (common) wound haematoma deep venous thrombosis myocardial infarction allergic drug reaction transfusion reaction Septic problems related to the operation usually develop after several days.
Postoperative fever
The diagnosis of septicaemia can be easily missed, especially in small children, the elderly and the immunocompromised, and in the absence of classic signs, which are: fever (± shivering) muscle pain rash (suggestive of meningococcus) tachycardia tachypnoea cool extremities
Septicaemia
Patients with septicaemia require urgent referral as it has a very high mortality rate.
17
Investigations should include two sets of blood cultures and other appropriate cultures (e.g.
urine, wound, sputum). Empirical initial treatment in adults (after blood cultures) is vancomycin
IV and gentamicin IV
Septicaemia
Bacteraemia The transient presence of bacteria in the blood (usually implies
asymptomatic) caused by local infection or trauma.
Bacteraemia
Septicaemia (sepsis) The multiplication of bacteria or fungi in the blood, usually causing a systemic inflammatory response (SIRS). SIRS is defined as two or more of (in adults): temperature >38°C or <36°C respiratory rate >20/min heart rate >90/min WCC >12 × 10 9 /L or <4 × 10 9 /L
Septicaemia
Severe sepsis Sepsis associated with organ dysfunction, hypoperfusion or
1
2
hypotension with two or more of: fever, tachycardia, tachypnoea and elevated
WCC.
sepsis
Sepsis with critical tissue perfusion causing acute circulatory failure
including hypotension that does not respond to IV fluid administrations and
peripheral shutdown—cool extremities, mottled skin, cyanosis. Consider S. aureus
(food poisoning, tampon use) and S. pyogenes.
Septic shock
When patients present with the complaint of a ‘funny turn’ it is usually possible to determine that
they have one of the more recognisable presenting problems, such as fainting, ‘blackouts’,
lightheadedness, weakness, palpitations, vertigo or migraine. However, there are some who do
present with confusing problems that warrant the label of ‘funny turn’. The most common
problem with funny turns is that of misdiagnosis, so it is essential to take a proper and adequate
history.
Faints, fits and funny turns
It is important to remember that phrases like ‘funny turn’ or ‘feeling weird’ are ways of
communicating subjective symptoms seen through a particular cultural and linguistic lens, often
during times of stress.
1 Various causes of faints, fits and funny turns are presented in
Faints, fits and funny turns
syncope
seizures
sleep disorders—sleep apnoea/narcolepsy/cataplexy
labyrinthine
Faints, fits and funny turns
Psychogenic/communication problems Breath-holding attack Conversion reactions (hysteria) Culture/language conflicts Fugue states Hyperventilation
Faints, fits and funny turns
Transient ischaemic attacks and strokes Complex partial seizure (temporal lobe epilepsy) Tonic, clonic or atonic seizures Primary absence seizure Migraine variants or equivalents, e.g. acute confusional migraine Familial periodic paralysis Cardiovascular disorders: arrhythmias Stokes–Adams attacks postural hypotension long QT syndrome aortic stenosis Vertigo Drug reaction Alcohol and other substance abuse Hypoglycaemia Anaemia Head injury Amnesic episodes Metabolic/electrolyte disturbances Vasovagal/syncope Carotid sinus sensitivity Cervical spondylosis Sleep disorders: sleep apnoea narcolepsy/cataplexy Autonomic failure
Faints, fits and funny turns
The commonest cause of ‘funny turns’ presenting in general practice is
Table 43.2
lightheadedness, often related to psychogenic factors such as anxiety, panic and
hyperventilation.
2 Patients usually call this ‘dizziness’.
Faints, fits and funny turns
Absence attacks occur with minor forms of epilepsy and with partial seizures such
as complex partial seizures.
The psychomotor attack of complex partial seizure presents as a diagnostic
difficulty. The most commonly misdiagnosed seizure disorder is that of complex
partial seizures or variants of generalised tonic–clonic seizures (tonic or clonic or
atonic).
The diagnosis of epilepsy is made on the history (or video
electroencephalogram/EEG), rather than on the standard EEG, although a sleepdeprived EEG is more effective.
Faints, fits and funny turns
The triad—angina + dyspnoea + blackout or lightheadedness—indicates aortic
stenosis.
Severe cervical spondylosis can cause vertebrobasilar ischaemia by causing
pressure on the vertebral arteries that pass through the intervertebral foramina,
especially with head turning or looking up.
Faints, fits and funny turns
Onset in older person Neurological symptoms and signs Headache Page 521 Page 520 Tachycardia Irregular pulse Fever Rash Drugs: social or prescribed Cognitive impairment Confusion: gradual onset
Red flag pointers for faints, fits and funny turns
fright, pain →
vasovagal attack
standing up →
postural hypotension
exertion →
aortic stenosis
tingling in extremities or tightening of the hand →
anxiety/hyperventilation
visual problems →
migraine or TIA
hallucinations (taste/smell/visual) →
complex partial seizure
speech problems →
TIA or anxiety
sweating, hunger feelings →
hypoglycaemia
Epilepsy: first presentation known epilepsy with recurrence Cerebral hypoxia Hypoglycaemia Poor cerebral perfusion: oedema of eclampsia Neurotrauma Cerebrovascular accident CNS infections: meningitis encephalitis septicaemia septic emboli cerebral abscess Toxins Alcohol excess Hyperthermia Metabolic disorders Drugs: Page 522 antidepressants theophylline amphetamine antibiotics, e.g. norfloxacin, ciprofloxacin cocaine local anaesthetics Anaphylaxis Expanding brain lesion: neoplasm haematoma
Important causes of convulsive
seizures
