Topics from Past Papers Flashcards
1
Q
What is Coeliac disease?
A
T-cell mediated inflammatory autoimmune disease affecting the small bowel in which sensitivity to prolamin (gluten) results in villous atrophy and malabsorption
Presentation is bimodal (in infancy and at age 50-60) - more common in irish populations
Associations include:
- Positive family history
- HLA-DQ2 allele
- Other autoimmune disease i.e T1 DM, Graves disease, Hashimotos thyroiditis
2
Q
What are the symptoms of Coeliac disease?
A
- Gastrointestinal symptoms
- Abdominal pain
- Distension
- Nausea and vomiting
- Diarrhoea
- Steatorrhoea (fatty stools)
- Systemic symptoms
- Fatigue
- Weight loss or failure to thrive in children
- General appearance: Check for pallor (secondary to anaemia), short stature and wasted buttocks (secondary to malnutrition), features of vitamin deficiency secondary to malabsorption (e.g bruising due to Vitamin K deficiency)
- Dermatological manifestation: Dermatitis herpetiformis (pruritic papulovesicular lesions over the buttocks and extensor surfaces of the arms, legs and trunk)
- There may be abdominal distension
3
Q
What are the complications of Coeliac disease?
A
- Unexplained iron deficiency
- B12 or folate deficiency
- Hypersplenism (→ suspectibility to encapsulated organisms)
- Osteoperosis (DEXA scan may be required)
- Enteropathy associated T-cell lymphoma ( rare type of non-hodgkin lymphoma - likelihood is directly proportional to the strength of overall adherence to gluten free diet)
4
Q
What is the diagnostic test for Coeliac disease?
A
First line is Anti-TTG IgA antibody ( IgA level should be measured in conjuction as Coeliac disease patients with IgA dieficient patients will have false negative anti-TTG IgA)
Anti-endomyseal antibody can be measured if IgA TTG is weakly positive
Anti-gliadin is not reccommended and HLA-DQ2 should not be done in non-specialist setting
Stool culture is necessary to exclude infection
GOLD STANDARD IS OGD and DUEODENAL/JEJUNAL Biopsy - should be referred after positive serological test (or negative test but high clinical suspicion) - should be carried out before gluten is withdrawan from diet and repeated after gluten is withdrawn
Histology from biopsy should reveal Sub-total villous atrophy (as entrocytes forming the tip of villi are destroyed), crypt hyperplasia (basal cells rapidly divide to try to compensate for distal villi cell destruction) and intra-epithelial lymphocytes
For blood test: FBC (which may show microcytic anaemia due to iron deficiency, a normocytic anaemia due to chronic inflammation or a macrocytic anaemia due to folate deficiency) - U+E and bone profile( vitamin D absorption may be impaired, LFT(albumin may be low secondary to malabsorption), Iron, B12, Folate
5
Q
What is the management of Coeliac disease?
A
- Only management is life-long gluten free diet (patients often require education regarding what foods contain gluten)
- Patients require regular monitoring to check adherence to gluten free diet and to screen for complications
6
Q
What is Crohn’s Disease?
A
Crohn’s disease is a chronic relapsing IBD.
Characterised by a transmural granulomatous inflammation which can affect any part of the gastrointestinal tract, commonly the ileum, colon or both
More likely in northern climates and developed countries - more common in caucasian people than in asian or black - Ashkenazi jews have 2-4x higher risk of crohns
Bimodal age of onset, most common age being between 15-40 and a smaller secondary peak between 60-80
Family history is a risk factor (10-25% of patients have a first degree relative who also suffers from Crohn’s)
7
Q
What are the signs and symptoms of Crohn’s Disease?
A
- Gastrointestinal symptoms (crampy abdominal pain and diarrhoea)
- General appearance: Cacechtic (muscle weakness) and pale, may be digital clubbing
- Abdo: check for aphthous ulcers in mouth, may be abdo/right lower quadrant tenderness and right iliac fossa mass
- PR examination should be carried out to check for perianal skin tags, fistulae or perianal abscess
- Weight loss and fever
- Dermatological manifestations: Erthyema nodosum (painful erythematous nodules/plaques on the shins) - Pyoderma gangrenosum ( a well defined ulcer with a purple overhanging edge)
- Ocular manifestations: Anterior uveitis (painful red eye with blurred vision and photophobia) - Episcleritis (painless red eye)
- Hepatobilliary manifestations: gallstones ( more common in Crohns than in ulcerative colitis)
- Haematological and renal manifestations: AA amyloidosis (2ndary to chronic inflammation) and renal stones (more common in crohns vs ulcerative colitis)
8
Q
What are the investigations in Crohn’s disease?
A
- Blood tests: Raised white cell count - Raised ESR/CRP - Thrombocytosis - Anaemia (2nd to chronic inflammation) - low albumin (2nd to chronic inflamm) - Iron, B12, Folate
- Stool culture necessary to exclude infection
- Faecal Calprotectin (antigen produced by neutrophils) will be raised (distinguishes IBD from IBS)
- Endoscopy with imaging required for diagnosis
- MRI is required for suspected small bowel disease
- Upper GI series may show string sing of Kantour ( string-like appereance of contrast-filled narrowed terminal ileum, suggestive of Crohn’s disease
9
Q
What are the colonoscopy findings in Crohn’s disease?
A
- Intermittent inflammation (skip lesions)
- Cobblestone mucosa (due to ulceration and mural oedema
- Rose thorn ulcers (due to transmural inflammation) +/- fistulae or abscesses
- Non-caseating granulomas
10
Q
What is the medical management to induce remission of Crohn’s Disease?
A
- Patients should be offered monotherapy with glucocorticoids (prednisolone or IV hydrocortisone)
- Enteral nutrition may be considered as an alternative in children (as steroids suppress growth)
- Azathioprine or mercaptopurine may be added to induce remission if there are 2 or more exacerbations in a 12-month period or the glucocorticoids cannot be tapered ( check for TPMT activity, if deficent cannot offer Aza or merca - offer methotrexate as add on therapy if aza or merca cant be tolerated)
11
Q
What is medical management to maintain remission in Crohn’s disease?
A
- Azathioprine or mercaptopurine should be offered first line
- Methotrexate may be considered for patients who are intoleront or do not respond
12
Q
What is the surgical management of Crohn’s disease?
A
Surgical management is rarely curative in Crohn’s unlike in Ulcerative colitis so maximally conservative
Dependent on the part of the GI tract that is affected
13
Q
What is the management of peri-anal fistulae?
A
Drainage Seton is the management of choice for high (trans-sphincteric) fistulae
Fistulotomy is the management of choice for low (submucosal) fistulae
Sphincter saving methods include fibrin glue and fistula plug (not yet mainstream)
14
Q
What is the management of peri-anal abscess?
A
- Should be started on intravenous antibiotics e.g ceftriaxone + metronidazole
- Require examination under anaesthetic and incision and drainage
15
Q
What is hypoalbuminaemia?
A
Albumin is a protein synthesised by the liver which provides the blood with oncotic pressure - Deficiency in this protein leads to Oedema
Causes can be either due to impaired synthesis, increased loss, Dilution:
- Impaired synthesis
- Malabsorption i.e in Crohns
- Malnutrition
- Liver disease
- Malignancy
- Acute phase reaction e.g sepsis
- Increased loss
- Nephrotic syndrome
- Protein wasting enteropathies
- Burns
- Dilution
- Pregnancy
16
Q
What is a chronic subdural haemotoma?
A
Chronic phase is >3 weeks after bleed - the haematoma becomes hypodesne relative to adjacent cortex
Can cause symptoms like increasing confusion, increased falls - occurs more in older people bleeding occurs slowly and symptoms might not appear for weeks
17
Q
What is a Branchial cyst?
A
A branchial cyst is an embryological remnant from the development of the branchial arches
Manifests as a painless cystic mass anterior to the sternocleidomastoid muscle just below the ear - typically becomes apparently in early adulthood/late childhood after infection
Management is normally surgical or conservative
18
Q
What is Hodgkin’s Lymphoma?
A
Hodkin’s lymphoma are malignant lymphomas characterised by the presence of Reed-Sternberg cells
Risk factors are: EBV, HIV, Immunosuppresion, Cigarette smoking
19
Q
What are the clinical features of Hodgkin’s lymphoma?
A
Typically presents in young adults with cervical or supraclavicular (i.e in the anterior triangle of the neck) as a non-tender lemphadenopathy, though location of diseased nodes can vary
Alcohol induced pain is a suggestive symptom
May be symptoms caused by compression of surrounding structures e.g shortness of breath or abdominal pain
B symptoms (fever, night sweats and weight loss) occur in 30% of patients - important to examine the patient for lymphadenopathy and to check for hepatomegaly or splengamoly
20
Q
How is a diagnosis of non-hodgkin’s lymphoma made?
A
Normally through lymph node biopsy (i.e excision biopsy) with evidence of Reed Sternberg cells being diagnostic
Blood results can predict poor prognosis via low haemoglobin and raised LDH, as they indicate high red cell turnover
Staging scans are needed to elucidate the extent of the disease
5 year surival varibale <40% to >95% depending on the type of disease
21
Q
What is the management of Non-hodgkin’s lymphoma?
A
Treatment is usually with chemoradiotherapy
22
Q
What is Rheumatoid arthritis?
A
Rheumatoid arthritis is a common chronic inflammatory autoimmune disease
The acute phase response of Rheumatoid arthritis is driven by the cytokine IL-6
Peak onset is in 40-60 year old - gradual onset over weeks and is consideribly more common in females (3:1) and smokers
23
Q
How does Rheumatoid arthritis present in joints?
A
- Symmetical, polyarticular inflammatory arthiritis involving the small joints of the hand (metacarpophalangeal and proximal interphalangeal joints), wrists and feet
- Other joints become involved later as the disease progresses
- The distal interphalangeal joints usually spared in RA however which can help differentiate it from psoriatic arthritis (presents in a similiar fashion)
- The pain is inflammatory and as such is usally better with movement and associated with prolonged early morning stiffness (>30min)
- Joints are swollen, red, warn and tender on exmaination
Join pattern involvement in RA is very variable however and can take almost any form, including acute monoarthritis and palindromic rheumatism which causes recurrent, short lived(hours to days) episodes of arthritis in different joints before settling into a more permanent form
24
Q
What are the specific joint deformities in Rheumatoid arthritis?
A
In hands:
Subluxation = partial dislocation within body
- Wrist subluxation
- Metocarpophalageal subluxation
- Swan-neck finger deformitiy (MCP felxion, PIP hyperextension, DIP hyperflexion)
- Boutonniere finger deformity (PIP flexion, DIP hyperextension)
- Ulnar deviation of proximal phalages
- Z shaped thumb
In feet:
- Hallux valgus
- Hammer Toes
- MTP subluxation
Occasionally extensor tendons of the hands and feet may rupture and require prompt surgical repair to maintain their function
Unlike seronegative spondylarthropathies, where lower back pain can be a prominent feature, RA spares the lumbar and thoracic spine - can involve the cervical spine, in particular the atlanto-axial joint C1-C2 - (as the stabilising ligaments of the joints are damaged, instability and subluxation of the A-A joint can occur → results in neck pain radiating to occiput but can also cause a myelopathy with weakness and altered sensation in upper limbs)
In RA, minor neck trauma in these patients can worsen subluxation and even cause upwards migration of the odontoid peg through the foramen magnum - C-spine imaging should be performed in any RA patient thought to be at risk
25
What are the peri-articular features in RA?
Carpal tunnel syndrome ( causing pain, weakness and paraesthesia in the median nerve distrubtion
Tenosynovitis ( typically of the flexor tendons in the hands, causing pain and swelling)
Bursitis (typically of the olecranon (elbow) and sub-acromial (shoulder) bursae causing pain and swelling
26
What are the general features of RA?
* General: Low grade fever, weight loss, fatigue
* Haem:
* Anaemia of chronic disease (most DMARDs can cause cytopenias as a side effect)
* Splenomegaly including Felty's syndrome (triad of RA, splenomegaly and neutropenia)
* Amyloidosis - classically affects the kidneys causing nephrotic syndrome
* Generalised lymphadenopathy
* Derm:
* Rheumatoid nodules - firm dark skin nodules, usually around site of inflammation
* Small vessel vasculitis causing nailbed infarcts and arterial leg ulcers
* Raynauds syndrome
* Eyes:
* Keratoconjunctivitis sicca (dry eyes) - occur on its own or with sjogren's syndrome with oral, genital and gastric ulcers
* Episcleritis and scleritis
* Resp:
* Pleural effusions containing rheumatoid factor
* Rhemautoid nodules may be seen on chest x-ray but are asymptomatic
* Pneumonitis leading to pulmonary fibrosis ( can also be a side effect of methotrexate)
* Osteoperosis
* Peripheral neuropathy
27
What are the blood test findings in RA?
* FBC - Anaemia of chronic disease is common
* Inflammatory markers - Erythrocyte sedimentation rate and CRP is raised
* Rheumatoid factor - specific for rheumatoid artheritis - Rf patients with RA+ have more systemic involvement and worse prognosis
* Anti-CCP - a positive anti-CCP is more specific than RF for rheumatoid arthritis and can support the diagnosis though does not confirm it
28
What are the radiological features of RA?
* Joint x-rays often initially normal but then later have:
* Soft tissue swlling
* Periarticular osteoporosis
* Juxta-articular erosions
* Narrowing of joint space
29
What is the symptomatic relief treatment in RA?
* Regular paracetamol and NSAIDs
* During flares, intra-articular or a course of oral steroids can be given
* Physiotherapy - exercise prescription to help maintain muscle strength around the joint and range of movement
* Occupational therapy - provide advice and physical aids to avoid putting stress on joints - during acute flares, splints can be appleid to joints
* Surgery is reserved for severly damaged joints and may include joint arthroplasty, fusion or synovectomy
30
What are the disease modifying anti-rheumatic drugs used in rhaematoid arthritis?
DMARDs include immunosuppresants such as methotrexate, sulfasalazine, hydroxycholoroquine and leflunomide
Give DMARDs as monotherpay first line with addition of second DMARD if remission not achieved
commence DMARDs as early as posisble after symptoms occur, ideally within 3 months
DMARDs can take seceral weeks to produce response
Can use biological agents for RA - most common are anti-TNF such as infliximab - only used when disease is severe (DAS28 \>5.1) despite long term combination DMARD and taken in addition to DMARD - usually discontinue biologics if no significant improvement seen
RA patients should receive annual infleunza vaccine and pneumococcal vaccine every 5 years as per schedule - in patients on higher dose corticos or potent biologics, zoster vaccine is not reccommended
31
What are the consideration in RA patients trying to get pregnant?
Washout period of at least three months pre-conception for methotrexate - methotrexate should be avoided during pregnancy due to the risk of tetratogenicity
if patient becomes pregnant on methotrexate, refer to foetal medicine expert - in planned pregnancy, washout procedure should also be completed for patients on leflunomide and it should be avoided in pregnancy
Common for patients to have flares during postpartum - if mild, just paracetamol with weak opiod can be suffiecint - low dose prednisolone can be added to control flares
Hydroxychloroquuine and.or sulfasalzine with concomitant folic acid can be contiuned during pregnancy but should be initated by the rheum team
32
What is Nephrotic syndrome?
Nephrotic syndrome is a clinical syndrome that arises secondary to increased permeability of serum proteins through a damaged basement membrane in the renal glomerulus
Cytokines damage podocytes causing them to fuse together and destroy charge of the glomerular basement membrane → increased permeability to plasma proteins → massive protein loss in urine therefore serum albumin levels are reduced beyond the synthetic ability of the liver → patients with marked oedema as less albumin = less oncotic pressure - this leads to fluid leaking out into the interstitium - the liver attempts to maintain oncotic pressure by increasing synthesis of lipoproteins which causes hyperlipdaemia
33
What are the clinical features of Nephrotic syndrome?
* Proteinuria (\>3-3.5g/day)
* Oedema
* Hypoalbuminaemia
* Hyperlipidaemia
* Lipiduria
* frothy appearence of urine
34
What are the causes of Nephrotic syndrome?
Most common cause is membraneous glomerulonephritis in adults. In children, the most common cause is minimal change disease
* Systemic disease
* Diabetes mellitus (glomerulosclerosis)
* SLE (membranous)
* Amyloidosis
* Minimal change glomerulonephritis
* Associated with upper resp tract infection
* Biopsy will show fusion of podocytes on electron microscope, normal under light microscopy
* Treat with steroids
* 1% go on to have end-stage renal failure
* Membranous nephropathy
* Associated with cancers (lung, colon, breast), inflammatory conditions (SLE, thyroid disease), infections (Hep B) and drugs (penicillamine and gold)
* Biopsy will show subepithelial immune complex deposits
* 40% have spontaneous remissions
* Focal segmental glomerulosclerosis
* More common in afro-carribbean populations
* associated with berger's disease, sickle cell, HIV
* On biopsy will show focal scarring, IgM deposition
* Treat with steroids or cylophosphamide/ciclosporin
* 30-50% progress to end stage renal failure
* Membranoproliferative/mesangiocapillary
* Less common - presents with both nephritic and nephrotic
* associated with hep b hep c endocarditis
* 50% progress to end-stage renal failure
35
What are the clinical investigations and presentation of nephrotic syndrome?
* Periorbital and peripheral oedema
* Urine dipstick will show proteinuria and urinalysis will show raised albumin-creatanine ratio
* Renal biposy is indicated in all adults but should only be done in children with atypical presentation (steroid unresponsive, haematuria, under 1 years old and over 12 years old)
36
What are the complications of nephrotic syndrome?
* Infection (due to urinary loss of immunoglobulins)
* Venous Thromboembolism (due to urinary loss of thrombin III)
* Hyperlipidemia (increased hepatic production of lipids)
37
What is the management of nephrotic syndrome?
High dose steroids which should be tapered according to clinical response
38
What is Nephritic syndrome?
Nephritic syndrome is a condition causing haematuria, non-nephrotic range proteinuria (mild/moderate vs severe in nephrotic) and Hypertension. It also causes Oliguria (less than 300ml per day urine) and red cell casts in urine
39
How does nephritic syndrome present?
Can be viewed as a spectrum from nephrotic to nephritic:
* Pure nephrotic syndrome - minimal change disease
* Nephrotic syndrome with some haematuria - mambraneous glomerulonephritis, focal segmental glomerulosclerosis
* Nephritic syndrome with nephrotic-range proteinuria: membrano-proliferative ( aka mesangio-capillary) glomerulonephritis
* Pure nephritic syndrome: post streptocloccal glomerulonephritis, IgA nephropathy/Henoch-schonlein purpura, infective endocarditis, goodpasture's disease, vasculitis
Can distinguish between post-streptocloccal glomerulonephritis and IgA nephropathy by the fact that post-strep glom typically presents 3-4 weeks after sore throat/skin infection where IgA nephropathy typically presents 3-4 days after mild URTI
40
What are the differntials of nephritic syndrome?
Remember SHARP AIM
* S - SLE
* H - Henoch-schonlein purpura
* A - Anti-glomerular basement membrane disease (aka goodpasture's disease)
* R - Rapidly progressive glomerulonephritis
* P - Post streptococcal GN
* A - Alport's syndrome
* I - IgA nephropathy (aka berger's disease)
* M - Membranoproliferative GN
41
What is Molar pregnancy?
Molar pregnancy (aka hydatidiform mole) is when from conception there is an imbalance in the number of chromosomes from the mother and father
Highest risk is at each end of fertility (under 16, over 45)
Can be a complete mole or patial mole
42
What are the features of a complete mole?
* Complete mole is formed from 1 sperm and an empty egg with no genetic material
* Sperm then replicates to give a normal number of chromosomes → diploid and all chromosomes are of paternal origin
* There is no foetal tissue present - just proliferation of swollen chorionic villi
43
What are the features of a partial mole?
* Partial mole is formed from 2 sperms and a normal egg
* Both paternal and maternal genetic material is present
* Variable evidence of foetal parts
44
What is the presentation of Molar Pregnancy?
* Vaginal Bleeding
* Nausea
* Hyperemesis gravidarum
* Thyrotoxicosis (because hCG is closely related to TSH and can therefore activate it's receptors)
* Uterus is larger than expected for gestational age. This enlargement is due to excessive growth of trophoblasts and retained blood
45
What are the investigations of Molar pregnancy?
* B-hCG levels are often much higher than would be expected in a normal pregnancy
* Trans-vaginal ultrasound is also used and in complete molar pregnancy shows a “snowstorm” appearance, low resistance of blood vessel flow and absence of a foetus
46
What is the management of Molar pregnancy?
* Requires urgent referral to a specialist centre for treatment as to reduce the time-frame for potential complications such as choriocarcinoma or invasion from developing
* Molar pregnancies cannot survive so managed with suction curettage to remove them from uterus - when fertility does not need to be preserved, then hysterectomy can be preformed
* Surveillance is reccommended - two weekly serum and urine hCG until back to normal - if partial mole, then repeat hCG done 4 weeks later, if normal patient is dicharged from surveillance - in complete mole have to send monthly repeat hCG samples for at least 6 months
47
What is Hyperemesis Gravidarum?
Hyperemesis gravidarum is severe vomiting with onset before 20 weeks of gestation
It is severe enough to require admission to hospital and is a diagnosis of exclusion
48
What are the differentials for Hyperemesis gravidarum?
* Infections: Gastroenteritis, UTI, hepatitis and meningitis
* Gastrointestinal problems: Appendicitis, cholecystitis, bowel obstructions
* Metabolic conditons: Diabetic ketoacidosis, thyrotoxicosis
* Drug Toxicity
* Molar pregnancy (abnormally high level of beta-hCG due to gestational trophoblastic disease can cause severe nausea and vomiting)
49
What is the management of Hyperemesis Gravidarum?
Generally supportive and includes the following:
* Fluid replacement therapy with normal saline
* Potassium chloride as excessive vomiting usually causes hypokalaemia
* Anti-emetic medications such as **cyclizine** (first line), promethazine, metoclopramide or prochlorperazine - Ondansetron or Domperidone may be used in severe cases
* Thiamine and folic acid to prevent development of Wernicke's encephalopathy
* Antacids to relieve epigastric pain
* Thromboembolic stockings and LWMH as there is increase risk of VTE - due to combination of pregnancy, immobility and dehydration
50
What are the complications of Hyperemesis Gravidarum?
* Gastrointestinal problems: Mallory-weiss tears, malnutrition and anorexia
* Dehydration related to ketosis and VTE
* Metabolic disturbance such as hyponatreamia, Wernicke's encephalopathy, kidney failure, hypoglycaemia
* Psychological sequelae such as depression, PTSD and resentment towards the pregnancy
* If condition is severe, foetus may be affected due to maternal metabolic disturbance - complications include low birth weight, intrauterine growth restriction and premature labour
51
What type of white blood cell type is elavated in strongyloides infection?
Eosinophils
52
What is Pancytopenia?
It is when full blood count shows:
* Anaemia (low RBC)
* Thrombocytopenia (low platelets)
* Leukopenia (low WBC)
53
What are the causes of Pancytopenia?
* Causes of decreased marrow haematopoetic function
* Chemo and radiotherapy (can be transient)
* Vitamin B12 and folate deficiency
* Marrow infiltration by haem malignancies (leukaemias or lymphomas)
* Myelofibrosis, in which there is progressive marrow fibrosis
* Multiple myeloma (a plasma cell dyscrasia)
* Parvovirus infection in haemolytic disease (such as sickle cell anaemia)
* Inherited causes of marrow failure
* Fanconi's anaemia (autosomal recessive condition) and dyskeratosis congenita (x-linked)
* Increased desturction/sequestration of blood cells peripherally
* seen in conditions affecting the liver (hep b/c, autoimmune hepatitis and cirrhosis)
* Immune destruction of blood cells - occurs in drug induced pancytopenia (secondary to e.g sulphonamide or rifampicin
54
What are the causes of Neutrophilia?
* Severe stress
* Trauma
* Surgery
* Necrosis
* Burns
* Haemorrhage
* Seizures
* Active inflammation
* Polyarteritis nodosa
* Myocardial infarction
* Disseminated malignancy
* Corticosteroid use (less common)
* CML(less common)
55
What are the causes of neutropenia?
* Severe Sepsis
* Viral Infection
* Drugs
* Marrow failure (due to malignancy or infiltration)
* Hypersplenism (less common)
* Fely's syndrome (less common)
* SLE (less common)
56
What are the causes of agranulocytosis?
* Drug causes:
* Carbamazepine
* Carbimazole
* Clozapine
Associated with depleted levels of basophils and eosinophils
57
What are the causes of lymphocytosis?
* Acute viral infection (especially EBV and CMV)
* Chronic atypical infection (tuberculosis, brucella, toxoplasmosis)
* Lymphoproliferative disorders (chronic lymphocytic leukaemia and lymphoma)
58
What are the causes of eosinophilia?
* Infections e.g parasitic worms
* Allergy including drug reactions
* Inflammatory diseases e.g eosinophilic granulomatosis and polyangitis
59
What are the causes of thrombocytopaenia?
Low platelet count can either be caused by decreased production (marrow disease or myelosuppresiv drugs) or increased destruction (immune-regulated, hypersplenism, consumption)
It is distinguished by functional thrombocytopenia in which platelet count is normal but platelet pattern bleeding occurs (such as Von willebrand disease and inherited platelet abnormalities)
60
What is adrenal insuffiency?
Adrenal insufficiency occurs where the destruction of the adrenal cortex leading to a reduction of glucocorticoid production
Can be primary (addison's disease) or secondary (due to insufficient pituitary or hypothalamic action on adrenal glands)
61
What are the primary causes of adrenal insufficiency (addisons)?
* Auto-immune (most common)
* Surgical removal
* Trauma
* Infections (tuberculosis; in developing world)
* Haemorrhage (waterhouse-friderichsen syndrome)
* Infarction
* less common are neoplasm, sarcoidosis, amyloidosis
62
What are the secondary causes of adrenal insufficiency?
* Congenital
* Base of skull fracture
* Surgery/radiotherapy
* Neoplasm
* Infiltration or infection of the brain
* Corticotropin-releasing hormone CRH deficiency
63
What are the clinical features of Addison's/adrenal insufficiency?
* Hypotension
* Fatigue and weakness
* GI symptoms
* Syncope
* Pigmentation (due to an increase in ACTH pre-cursors)
60% of patients have auto-immune addison's disease have vitiligo or other autoimmune endocrinopathies
64
What are the investigations for adrenal insufficiency?
* Low sodium
* High potassium
* Low glucose
* Low cortisol
* ACTH - high in primary insufficiency, low/low normal in secondary insufficiency
* Renin (high in addisons)
* Aldosterone (low in addisons)
ACTH (short synacthen test) is required to confirm the diagnosis
Establish cause using:
* Adrenal auto-antibodies
* Chest X-ray
* CT scan of the adrenal glands
* MRI brain
65
What is the management of addison's disease?
* Long term steroid medication - if they have any form of intercurrent illnes, double the regular steroid dose
* Replacement of both gluco- and mineralo-corticoids are required
* Hydrocortisone for gluco and fludrocortisone for mineralo
* Complications should be screened for including adrenal crisis and osteoperosis
Management of addisonian crisis is fluid resus and IV steroids + glucose if there is hypoglycaemia
66
What drugs should be discontinued before Contrast CT?
* Metformin
* Renin-angiotensin system blockers
* Non-steroidal anti inflammatory drugs
* Diuretics
These can increase risk of contrast induced aki
67
What are the causes of miscarriage?
Clinical features are vaginal bleeding + pain - may be reported to be worse than a usual period
Can be split into Foteal pathology or maternal pathology
* Foetal pathology
* Genetic disorder
* Abnormal development
* Placental failure
* Maternal Pathology
* Uterine abnormality
* Cervical incompetence
* Polycystic ovary syndrome
* Poorly controlled diabetes
* Poorly controlled thyroid disease
* Anti-phospholipid syndrome
Differentials for vaginal bleeding before 24 weeks gestation is an ectopic pregnancy - in ectopic pregancy, pain is often first and dominant symptom and if vaginal bleeding does occur it is minor in comparison to miscarriage
68
What is threatened miscarriage?
Mild symptoms of bleeding with the foetus retained within the uterus as the cervical OS is closed therefore “threat” of miscarriage but it is not certain. May be little or no pain - Ultrasound reveals that the foetus is present intrauterine
69
What is Inevitable miscarriage?
Often heavy bleeding and pain, where the foetus is currently intrauterine but the cervical os is open so it is inevitable that the foetus will be lost - foetus is present intrauterine
70
What is complete miscarriage?
There was an intrauterine pregnancy which has now fully miscarried, with all products of conception expelled and the uterus is now empty. The OS is usually closed - patient may be alerted to the miscarriage by pain and bleeding
71
What is missed miscarriage?
The uterus still contains foetal tissue but the foetus is no longer alive - the miscarriage is missed as often the woman is asymptomatic so does not realise something is wrong. The cervical OS is closed
72
What are the investigations for miscarriage?
* Trans-vaginal ultrasound to establish whether foetal heartbeat or any foetal components within the uterine cavity
* Serial hCG measurements can be used - take 48 hours apart - if level falls, the foetus will not develop or there has been a miscarriage, if slight increase or a plateau in hCG levels then this may indicate an ectopic pregnancy - large increase in hCG suggests the foetus is growing normally intrauterine
Management if surgical and the woman is RHD- then they should recieve anti-D prophylaxis
73
What is Intracranial venous thrombosis?
Intracranial venous thrombosis refers to occlusion of venous vessels in cranial cavity
Risk factors are the pill, pregnancy, peri-partum period, prothrombotic haem conditions, systemic disease i.e dehydration or sepsis, and local factors i.e skull abnormalities, trauma or local infection
Presentation is variable but common symptoms include headache, confusion/drowsiness, impaired vision and nause/vomiting
Other signs include seizures, reduced consiousness, focal neurological deficits, cranial nerve palsies, papilloedema
74
What are the investigations for intercranial venous thrombosis?
Non-contrast CT reveals a hyperdensity in affected sinus
CT venogram is used to look for filling defect
most common form of dural venous thrombosis affects the superior saggital sinus
Cavernous sinus thrombosis is less common - typically caused by spreading sinus infection and presents with chemosis (swelling of the eye, looks like big blister in eye), exophthalmos (aka proptosis = bulging or protuding eyeballs), and peri-orbital swelling
Management is LMWH and addressing risk factors
75
What is Croup?
Croup, AKA laryngotracheobronchitis, is an infection of the upper airway which obstructs breathing and causes a characteristic barking cough
76
What is the presentation of Croup?
Classically presents with a braking, seal like cough
There can also be stridor if the child is upset - so it is important to keep the child calm and to avoid putting in cannulas if possible
Diagnosis is clinical and most common in children aged 6 months to 2 years
77
What is the management of Croup?
Remember ODA:
* Oxygen (humidified)
* Dexamethasone PO 0.15mg/kg or Budesonide neb 2mg
* Adrenaline nebulised (5ml 1:5000)
78
What is Optic neuritis?
Optic neuritis is inflammation of the optic nerve
Occurs due to inflammatory processes which lead to activation of T-cells that cross the blood brain barrier and cause hypersentivity reaction to neuronal structures - mostly occurs in adult women and people who live in high latitude
79
What are the causes and clincal features of Optic neuritis?
* Demyelinating lesions (MS is the most common cause of demyelinating ON)
* Autoimmune disorders
* Infectious conditons
Clinical features are a classic triad of Visual Loss, Periocular pain and Dyschromatopsia (form of colour blindness where only 2 out of 3 primary colours can be distinguished)
80
What is the treatment of Optic neuritis?
First line treatment for ON is IV methylprednisolone. Oral prednisolone is contraindicated due to increased risk of second episode
Contrast sensitivity, colour vision and visual field remain impaired even after food recovery of visual acuity
81
What is Charles Bonnet Syndrome?
It is a syndrome describing the occurence of well formed, vivid elaborate and often stereotyped visual hallucinations in a partially sighted person who has insight into the unreality of what they are seeing
Common conditions leading to the syndrome are macular degeneration, glaucoma and cataract
82
What is Cytomegalovirus infection?
Cytomegalovirus belongs to herpesvirus family and majority of people have been infected at some point
Pregnant women who have been infected with CMV for the first time during pregnancy risk transmission to foetus
If vertically transmitted to developing foetus, can cause congenital CMV disease
83
What are the clinical features of congenital CMV?
Features at birth include:
* Low birth weight
* Jaundice
* Microcephaly
* Seizures
* Pneumonia
* Petechial rash
In the first few years of life the neurological consequences are:
* Hearing loss
* Visual impairment
* Learning disability often become evident
84
How do you make a diagnosis of congenital CMV?
Diagnosis can be made antenatally with ultrasound as well as using amniocentesis following confirmed maternal infection
85
What medications cause angioedema?
Angioedema is swelling underneath the skin - usually a reaction to a medication
ACE inhibitors such as enalapril, lisinopril, perindopril and ramipril
Ibuproben and NSAID painkillers
Angiotensin-II receptor Blockers such as andesartan, Irbesartan, Losartan, olmesartan and valsartan
86
What are the complications associated with blood transfusions?
Many types of blood transfusion reactions - can be categorised into acute, subacute and chronic (long-term)
87
What are acute complications of blood transfusions?
* Allergy
* Presentation ranges from urticaria to angioedema and anaphylaxis
* Management is to stop the transfusion, give saline and adrenaline (if anaphylactic)
* Acute Haemolytic transfusion reaction
* Caused by incompatible blood bag to a patient
* Early signs include fever, hypotension and anxiety
* Late signs are generalised bleeding secondary to disseminated intravascular coagulation
* Management is to stop transfusion, give saline, treat DIC (heparin + replacement of platelets, coag factors and fibrinogen)
* Febrile non-haemolytic transfusion reaction
* Presents with fever, rigors/chills, but patients are otherwise well
* Slow the transfusion, give paracetamol
* Transfusion-related acute lung injury
* Presents with pulmonary oedema and can cause ARDS
* Stop transfusion, give saline, treat ARDS
* Transfusion-associated circulatory overload
* Presents with fluid overload
* Slow transfusion, furosemide
88
What are the late complications of blood transfusion reactions?
* Delayed Haemolytic transfusion reaction
* Caused by an exaggerated response to a foreign antigen the patient has been exposed to before
* Jaundice, anaemia, and fever usually 5 days post-transfusion
* Transfusion-associated graft-verus-host disease
* Caused by donor blood lymphocytes attacking the recipient's body
* Rare but high risk of mortality
89
What is Cushing's Syndrome?
It is an endocrine disorder of glucocorticoid excess (cortisol)
90
What are the causes of Cushing's Syndrome?
* ACTH-dependent disease: Pituitary tumour, ectopic ACTH-producing tumours
* Non-ACTH dependent: adrenal adenomas, adrenal carcinomas
Cushing's disease describes glucocorticoid excess (cortisol) caused by an ACT secreting pituitary tumour
91
What are the clinical features of Cushing's syndrome?
* Proximal myopathy
* Striae
* Bruising
* Osteoporosis
* Diabetes Mellitus
* Obesity
* Hypertension
* Hypokalaemia
* Moon Face
* Acne and hirsutism
* Interscapular and supraclavicular fat pads
* Centripetal obesity
* Thin limbs
* Thin skin
* Impotence
* Psychological issues
* Osteopenia or Osteoporosis
92
What are the investigations for Cushing's Syndrome?
* To identify cortisol excess - take 24 hour urinary free cortisol - low-dose dexamethasone suppression test
* For localisation:
* Plasma ACTH
* High-dose dexamethasone suppresion test
* Inferior petrosal sinus sampling
* MRI of the pituitary
* CT Chest and abdomen (suspected tumour)
93
What is the management of Cushing's Syndrome?
Medical therapy is to reduce cortisol excess is indicated before pituitary surgery or radiotherapy in Cushing's disease in order to get the cortisol level under control, reduce the tumour size and better prepare the steroid exposed tissues for invasive treatment
* Surgical Management
* Pituitary tumour resection is treatment of choice overall but normalisation of hypercortisolaemia with medical therapy prior to operating improves outcomes
* Persisting high cortisol post-surgery is an indication for pituitary radiotherapy
* Medical managmenet
* Blockers of steroid synthesis pathway is first line, with Metyrapone the most commonly used
* Ketoconazole (adrenolytic agent), mifepristone (glucocorticoid antagonist) and pasireotide (somastostatin agonist) are other treatments
Successful treatment of cushings will lead to coritisol deficiency and subsequnetly steroid replacement post operatively is essential
94
What is Conn's syndrome?
Conn's syndrome is hyperaldestronism which is caused by an adrenal adenoma
Hyperaldestronism can be primary or secondary in origin and are classically associated with high blood pressure (which is often treatment resistant to multiple agents) and low serum potassium
95
What are the causes and features of Hyperaldestronism?
* Adrenal adenoma (conn's syndrome)
* Bilateral adrenal hyperplasia
* Familial hyperaldestronism
* Adrenal carcinoma
* Hypertension
* Hypokalaemia
* Metabolic alkalosis
* Presents with polyuria, polydipsia, lethargy and headaches - also associated with osteoporosis
96
What are the investigations for Hyperaldestronism?
* FBC/UE/LFT
* ESR
* Bone profile
* Thyroid function test
* Chest X-ray
* ECG
* Aldosterone/renin ratio
* Saline Suppresion test
* CT/MRI to locate adrenal lesions
* Selective adrenal venous sampling (gold standard)
97
What is the management of Hyperaldestronism?
Treatment of aldosterone excess is to indentify the underlying cause, using specialist imaging or adrenal venous sampling and then to surgically remove the affected adrenal gland or if bilateral adrenal disease, then to use medication such as potassium sparing diuretics (amiloride, apironolacone, eplerenone)
98
What is the management of Malignant hyperthermia?
It is managed by:
* Stopping the triggering agent
* Administring 200mg IV Dantrolene (a ryanodine receptor antagonist)
* Restoring normothermia
99
What is Haemophilia A?
It is an X-linked recessive inherited bleeding disorder caused by a deficiency in clotting factor VIII (an integral part of the intrinsic component of the coagulation cascade - measured using the APTT).
100
What is the diagnosis and clinical features of Haemophilia A?
* Presents early in life with deep and severe bleeding into soft tissues, joints and muscles
* Diagnosis is with factor VIII assay, and the severity depends on the factor VIII level (severe disease occurs if Factor VIII is \<1% of normal)
Management of a minor bleed is Desmopressin and with a major bleed is with Recombinant factor VIII
101
What is Haemophilia B?
Haemophilia is an X-linked recessive inherited bleeding disorder caused by clotting factor IX - an integral part of the intrinsic component of the coagulation cascade (measured using the APTT)
102
What are the clinical features and diagnosis of Haemophilia B?
* Typically presents early in life with deep and severe bleeding into soft tissues, joints and muscles
* Diagnosis is with a factor IX assay
* Treatment is with recombinant factor IX therapy
103
What is Von Willebrand's Disease?
Common inherited bleeding disorder - occurs in both men and women equally however women are more likely to experience symptoms of VWD because of the increased bleeding it causes during menstural periods, during pregnancy and after childbirth
104
What is the pathophysiology and clinical features of Von Willebrand Disease?
* Caused by reduced quantity or function of Von Willebrand factor which normally links platelets to the exposed endothelium and stabilises clotting factor VIII. Leads to an increased risk of bleeding - risk factors include a family history of VWD or a family history of bleeding
* Clinical features include:
* Excess or prolonged bleeding from minor wounds
* Excess or prolonged bleeding post-operatively
* Easy bruising
* Menorrhagia
* Epistaxis
* GI bleeding
Unlike in Haemophilia A and B, bleeding into joints or muscles are uncommon
105
What are the investigations in VWD?
Decreased Factor VIII activity so the PT and TT time in normal but APTT and bleeding time is prolonged (if factor VII activity is \<35% of normal). Platelet count is normal
Severity of VWD depends on type:
* Type 1 VWD caused by a partial quantative deficency in VWF
* Type 2 VWD caused by qualitative defects in VWF (decreased adhesion to platelets or Factor VIII)
* Type 3 VWD is caused by complete deficiency of VWF - in newborns presents with bleeding from umbilical cord
* Patients with type 2 or 3 present with more severe symptoms at an earlier age than patients with type 1
106
What is Giant Cell Arteritis?
Giant cell arteritis, aka Temporal arteritis is where the arteries particularly those at the side of the head become inflamed
107
How does Giant Cell Arteritis present?
Presents with a combination of the following in an elderly person:
* Temporal headaches - GCA can cause blindness and stroke therefore should be considered in any headache in an elderly person
* Jaw claudication (pain on chewing food)
* Amurosis Fugax (transient monocular blindness, often described as a dark curtain descending vertically)
* Thickened, tender temporal artery on examination. It may be pulseless
* Scalp tenderness
Onset can be acute or insidious, GCA and plymalgia rheumatica often occur together and so symmetrical proximal msucle weakness and oligoarthiritis (affects knees and can lead to anterior uveitus) may occur
Complications may include permanent monocular blindness, stroke
108
What are the investigations for Giant cell Artertis?
First line tests for GCA are for inflammatory markers (particularly ESR), FBC and LFTS - often patients have normochromic normocytic anaemia and about ⅓ have mildly abnormal LFTs
Definitive investigation is Temporal artery biopsy- if negative on the side with symptoms, the asymptomatic side may be biopsied - 3-5cm of the artery should be biopsied due to skip lesions therefore negative biopsy does not rule out disease
If large vessel involvement is suspected, this may be diagnosed by conventional angiography, magnetic resonance angiography or CT scan - often patients with large vessel involvement have normal temporal artery biopsy
109
What is the management of GCA?
Should be treated immediately with high dose steroids (60mg OD prednisolone) to prevent blindness and stroke
Once symptoms gradually resolve, prednisolone is gradually tapered usually over a long period of 1-2 years because relapses can occur when tapering too quickly
If weaning off steroid is problematic, steroid sparing agents may be used to lower the dose such as azathioprine
Since you're giving corticosteriod dose, bisphosphonates and proton pump inhibitors may be warranted to prevent osteoporosis and gastric ulcers - low dose aspirin is usually also given to further reduce the risk of stroke and blindness
110
What is an Ectopic pregnancy?
Ectopic pregnancy is a pregnancy which implants outside of the uterine cavity
Risk factors are: Pelvic inflammatory disease, pelvic surgery, IUS/IUD, assisted reproduction e.g IVF
111
What are the clinical features of Ectopic Pregnancy?
* Pelvic pain, which may be unilateral to the side of the ectopic
* Shoulder tip pain - if the ectopic bleeds, the blood can irritate the diaphragm
* Vaginal bleeding or a missed period
* Haemodynamic instability caused by blood loss if the ectopic ruptures
* Abdominal examination may reveal unilateral tenderness
* Cervical tenderness (chandelier sign) on bimanual examination. However this should not be performed as it carries a risk of rupturing the ectopic
Main differential is miscarriage - both present with pain and vaginal bleeding but in an ectopic, the pain is often first and dominant symptom and if vaginal bleeding occurs it is minor in comparison to a miscarriage
Pregnancy test will confirm the pregnancy and a trans-vaginal ultrasound can be used to try to locate the pregnancy
112
What is the management of ectopic pregnancy?
Three ways of managing - conservative, medical or surgical
Conservative management:
* option in a few women who have identified to have an ectopic but have minimal or no symptoms - will be followed closely with repeat B-hCG tests and if levels are not falling, active management is advised
Medical management
* Medical management is a one off dose of methotrexate - unless there is indications for surgical management (patient is in a significant amount of pain, adnexal mass of size ≥35mm, B-hCG levels are ≥5000IU/L, ultrasound identifies a foetal heartbeat)
* Woman is required to come to a follow-up appointment
* If initial dose of methotrexate has failed to treat the ectopic, they will require a second dose of methotrexate or surgical managmenet
Surgical Management
* Surgical management is often in the form of Salpingectomy (wehre the fallopian tube containing the ectopic is removed) - In cases wehre the ectopic is in a woman with only one functioning fallopian tube and they wish to remain fertile a salpingotomy is done where only the ectopic is removed
* Salpingotomy carries the risk that not all the tissue may be removed so the serial serum B-hCG measurement are done to exclude any trophoblastic tissue still within the fallopian tube
*
113
What is Endometriosis?
Endometriosis is a condition where endometrial tissue grows outside the uterine cavity
Presents as:
* Dysmenorrhoea (painful periods)
* Dyspareunia (painful intercourse)
* Subfertility
* Rarely, endometrial tissue can grow outside the female reproductive system such as bowel leading to cyclical rectal bleeding
* Pelvic examination may reveal tender, nodular masses on the ovaries or the ligaments surrounding the uterus
Main differentials are other causes of dysmenorrhoea - includes primary dysmenorrhoea, uterine conditions (fibroids, adenomyosis), adhesions, and PID
Investigations
* Transvaginal ultrasound is often normal - may sometimes identify ovarian endometrioma, which is a cyst made of endometrial tissue in the ovary
* Diagnostic laproscopy may be done - it is the gold standard however carries the risk of complciation so is not first line
114
What is the management of Endometriosis?
Depends on severity and symptoms
For pain, sometimes simple analgesia such as NSAIDs and Paracetamol may be all that is needed
If this is not sufficient than artificial menopause creating medications can be used such as:
* COCP
* Medroxyprogesterone acetate
* Gonadotrophin-releasing hormon agonist
Surgical management is:
* Diathermy of lesions
* Ovarian cystectomy (for endometriomas)
* Adhesiolysis
* Bilateral oophorectomy (removal of ovaries) (sometimes done with hysterectomy - removal of uterus)
* for managing infertility, menstrual suppresion would be unsuitable and so ablation or surgery is more appropraite
115
What are the clinical features of ulnar nerve injuries?
Ulnar nerve injuries are caused by elbow pathologies (fractures or dislocations) or impingement in the wrist (Guyon's canal)
Ulnar nerve lesions will lead to weakness of the intrinsic muscles of the hand and give rise to a “claw hand”
Clinical signs include finger weakness in both abduction and adduction as well as sensory loss over the fifth digit - ulnar nerve is responsible for innervating the muscles that cause the flexion of the 4th and 5th fingers at the distal interphalangeal joint
Formont's sign will be positive (flexion of the thumb when holding a piece of paper between thumb and second digit, due to weak adductor pollicis) - patients will also be unable to cross their fingers in a good luck sign
Ulnar paradox describes greater clawing in the hand when there is a lseion at the wrist compared to the elbow. Higher lesions will cause weakness of flexor digitorum profundus, hence an inability to flex the digits i.e if lesion at wrist, finger crossing less likely because hand is clawed, if lesion higher than wrist flexion difficult
116
What are the patterns of radial nerve injury?
* For very high lesions - the cause is commonly impingement e.g due to crutches, or Saturday night palsy (from placing ones arm over the backrest of a chair) - there will be wrist drop and tricep weakness
* For high lesions, normally humeral shaft fracture - there will be wrist drop, reduced sensation to anatomical snuffbox but no tricep weakness
* For low lesions, normally due to fracture in forearm e.g the head of radius, leads to finger drop with no sensory loss
117
What are Axillary nerve injuries?
Axillary nerve injuries typically occur as a result of a shoulder injury, particularly anterior dislocation and proximal humeral fractures
Symptoms include profound weakness of shoulder abduction due to disruption in the motor supply to deltoid and teres minor - there may also be weakness in shoulder flexion, extension and external rotation
The extension lag test can be used to evaluate motor deficit. To perform this, elevate patient's arms to near full extension and ask the patient to maintain the position. The test is positive if the arm drops
There may also be sensory disturbance to the lateral deltoid around the "regimental patch" - management is typically conservative, with reconstructive surgery reserved for those who do not respond to non-surgical management
118
What are Brachial Plexus injuries?
There are two prototypical brachial plexus injuries: damage to the upper roots (known as Erb's palsy) and damage to the lower roots (known as Klumpke's palsy)
Common causes of both include trauma and axillary radiotherapy (often for breast cancer)
Erb's Palsy:
* Involves the c5-c6 nerve roots with corresponding dermatomal sensory loss and the so called waiter's tip sign with shoulder adduction, elbow extension, forearm pronation and wrist flexion. It is most typically associated with shoulder dystocia and traumatic childbirth
Klumpke's palsy:
* Involves the C8-T1 nerve roots with corresponding dermatomal sensory loss, and weakness of the intrinsic muscles of the hand. Uncommonly T1 involvement may also result in an ipsilateral Horner's syndrome
119
What are C5 spinal nerve injuries?
Can present with altered sensation on the lateral aspect of the right arm, weakness of shoulder abduction and mild weakness of right elbow flexion. Her bicep tendon reflex is normally reduced
120
What is Postpartum Thyroiditis?
Postpartum thyroiditis is inflammation of the thyroid following delivery of a baby - can result in hyperthyroidism at first and ultimately produces hypothyroidism
121
How does TSH, T4 and T3 levels change in thyroid conditions?
* Primary hypothyroidism: High TSH Low T4
* Subclinical Hypothyroidism: High TSH normal T4
* Primary Hyperthyroidism: Low TSH Normal/High T4 High T3
* Central Hyperthyroidism (TSH-producing tumour): High TSH High T4 High T3
122
What are the features of hypothyroidism?
* Peripheral Features
* Dry, thick skin
* Brittle hair
* Scanty secondary sexual hair
* Head and Neck
* Macroglossia
* Puffy face
* Loss of lateral third of eyebrow
* Goitre (depending on cause)
* Cardiac
* Bradycardia
* Cardiomegaly
* Neurological features
* Carpal tunnel syndrome
* Slow relaxing reflexes
* Cerebellar ataxia
* Peripheral neuropathy
123
What are the causes of hypothyroidism?
* Hashimoto's thyroiditis
* Anti-TPO (thyroperoxidase): 90-95% of patients
* Anti-thyroglobulin: 35-60% of patients
* Anti-TSH receptor (blocking): 10% of patients
* Atrophic thyroiditis
* Autoimmune polyendocrine syndrome
124
What is the management of Hypothyroidism?
Levothyroxine is first line to replace thyroxine
Risk include osteoperosis and cardiac arrthymias
Following stabilisation of dose, TSH should be checked annually
125
What is Carpal Tunnel Syndrome?
Carpal tunnel syndrome arises from median nerve entrapment in the anatomically closed space of the carpal tunnel - more common in women
Causes can be:
* Diabetes
* Pregnancy
* Hypothyroidism
* Acromegaly
* Radial fracture
* Rheumatoid arthritis
126
What are the clinical features and management of Carpal tunnel syndrome?
* Symptoms are tingling/pain in the first three digits, worse at night and relieved by shaking/hanging out the hand at night
* There may also be clumsiness in hand movements and decreased sensation in first three digits
Management of carpal tunnel syndrome can be treated through splinting, local steroid injections and treatment of the underlying cause if it is secondary. If these fail then decompression surgery is used - performed by divigind the tunnel roof (flexor retinaculum)
127
What is Allergic Rhinitis?
Allergic Rhinitis is a common inflammatory condition of the nasal mucosa, characterised by nasal pruritis, sneezing, rhinorrhoea and nasal congestion
It can often be associated with allergic conjunctivitis with eye redness, puffiness and watery discharge
It is not uncommon for individuals with immune disorders to present with other disorders of immunity including atopy and asthma
It is IgE-mediated response to allergens within the environment may demonstrate a seasonal variation
128
What are the features of Hyperthryoidism?
* Peripheral features
* Fine tremor
* Finger clubbing
* Sweating
* Pretibial myxoedema
* Head and neck features
* Goitre (depending on cause)
* Thyroid bruit
* Eye features
* Lid retraction
* Lid lag
* Exophthalmos (graves' disease)
* Periorbital oedema (graves' disease)
* Opthalmoplegia (graves' disease)
* Cardiac
* Artrial fibrillation
* High output heat failure ( if severe and prolonged)
* Gastro
* Diarrhoea
* Neuro
* Muscle wasting
* Proximal weakness
129
What are the causes of hyperthyroidism?
* Primary causes
* Graves Disease
* Toxic thyroid adenoma
* Multinodular goitre
* Silent thyroiditis
* De Quervain's thyroiditis (painful goitre)
* Radiation
* Secondary causes
* Amiodarone
* Lithium
* TSH producing pituirary adenoma
* Choriocarcinoma (beta-hCG can activate TSH receptors)
* Gestational hyperthryoidism
* Pituitary resistance to thyroxine
* Strumi ovarii (ectopic thyroid tissue in ovarian tumours)
130
What is the management of hyperthyroidism?
* For symptomatic relief
* Propranlol
* Medical
* Carbimazole - contraindicated in early pregnancy but preferred in late
* Propylthiouracil - preferred in first trimerster/thyroid storm
* Radio-iodine
* Definitive management for multinodular goitre and adenomas
* Contraindicated in Graves eye disease because it may worsen symptoms
* Thyroidectomy
* INdicated for recurrance, goitres that obstruct other structures, potenial cancer
* May lead to hypoparathyroidism, hypocalcaemia, laryngeal nerve damage and bleeding
131
What is the management of Thyroid storm?
* IV propranlol
* IV digoxin
* Propylthiouracil through NG tube followed by lugol's iodine 6 hours later
* Prednisolone/hydrocortisone
Symptoms of thyroid storm: rapid heartbeat, high temp, diarrhoea and being sick, jaundice, severe agitation and confusion, loss of consiousness
Atrial fibrillation is also a complication of hyperthyroidism
132
What is the treatment diabetic neuropathy pain management?
Amitriptyline
133
What is the treatment for thiamine deficiency in wernicke's encethalopathy?
Pabrinex 1+2
134
What is the treatment for thiamine deficiency in wernicke's encethalopathy?
Pabrinex 1+2
135
What is multiple myeloma?
Multiple myeloma is a plasma cell dyscrasia (blood disease)
There is abnormal clonal proliferation of post-germinal B cells (plasma cells) - these cells secrete monoclonal antibodies most commonly IgG and antibody fragments into the serum and urine - also relative deficiency of functional antibodies resulting in relative hypogammaglobulinaemia
136
What are the clinical features of Multiple myeloma?
Remember the mnemonic CRAB HAI:
* Hyper(C)alcaemia - primarily due to increased osteoclast-mediated bone resorption
* (R)enal Impairment - occurs due to multiple factors
* (A)naemia: due to marrow infiltration by the tumour other cytopenias can occur (e.g thrombocytopenia and leukopenia)
* (B)one pathology: osteolytic lesions are common, can lead to pathological fractures and vertebral compression fractures
* (H)yperviscosity: can present with headache, visual disturbances and thrombosis
* (A)myloidosis: this has multiple sequelae including e.g cardiac failure and neuropathies
* (I)nfection: recurrent infection occurs secondary to leukopenia and immunoparesis (there is low levels of IgG)
137
What are the investigations for multiple myeloma?
Investigations broken down into three parts, initial work up, diagnostic tests and investigations to inform prognosis
* Work up investigations
* FBC may show anaemia, U&E may show renal impairment (particularly raised serum creatnine), hypercalcaemia is a common feature
* Skeletal survey: this is typically done with X-ray but CT/MRI is more sensitive. Findings include osteolytic bone lesions and pathological fractures
* Diagnostic investigations
* Serum and/or urine electrophoresis: will show paraprotein spike (IgG)
* Serum free light chain levels are high - used in non-secretory multiple myeloma
* Tissue diagnosis typically by bone marrow aspirate and biopsy: myeloma is confirmed if there are \>10% of plasma cells in the bone marrow
* Investigations to inform prognosis
* CRP (the higher the level, the worst the prognosis)
* LDH (the higher the level, the worse the prognosis)
* Beta-2-microglobulin (a very high over very low level confers poor prognosis)
* FISH and cytogenetic analysis (this may also inform the type of treatment used)
* High serum creatinine and low albumin are also poor prognostic markers
138
What is the management for multiple myeloma?
* For patients with minimal symptoms and no end-organ damage - give conservative management and iniate therapy when there are sings of active disease
* For young patients with minimal comorbodities - give haematopoietic stem cell transplant - patient will require induction therapy with non-chemotherapeutic (e.g bortezomib, thalidomide and dexamethasone) or chemotheraputic (e.g vincristine, doxorubican and dexamethasone) regimens
* The preferred regimen is with melphalan followed by autologous stem cell transplant
* Patients who are unsuitable for stem cell transplant are treated with MPT: Melphalan plus prednisolone plus thalidomide (lenalidomide is an alternative to thalidomide
* Erythropoetin (+/- transfusion) for anaemia
139
What is Septic Arthritis?
Septic arthritis is a joint infection caused by a bacteria or virus that spread to the fluid surrounding the joint - it needs to be treated immediately
140
What is pathophysiology of septic arthritis?
* Satph aureus (including MRSA) - 50% of cases and more so in those with rheumatoid arthritis, the elderly, IVDU and those due to orthopoedic procedures
* Streptococci - second most common cause - usually due to hamatogenous spread and may be associated with GI pathology
* Neisseria gonorrhoeae - particularly in young, sexually active patients - can be assymetric polyarticular or monoarticular. Wrists, ankles, elbows, knees and small joints of hands/feet commonly affected
* Pseudomonas aeurginosa – usually healthcare assocaited
* Salmonella - those with sickle cell anemia particularly at risk
* Gram negative bacilli
141
What are the clinical features of septic arthritis?
* Acute/subacute onset
* Joints feel hot painful and swollen
* Unsually one joint affected, multiple joints only in 20%
* Movement at the joint is restricted
* Systemic features include fever and malaise
* Chronic arthritis in those with slow growing underlying organisms e.g TB, fungi
* In patients with prosthetic joints, infection usually occurs less than 3 months after surgery - it may also occur between 3-24 months after surgery
142
What are the investigations of Septic Arthritis?
* Synovial fluid aspirate for cell counts, gram stain, culture, and microscopy (for crystals - as an important differential is gout)
* Blood cultures and tests for inflammatory markets
* Imaging: not diagnostic, can use plain X-ray and MRI (if osteomyelitis suspected)
143
What is the management of septic arthritis?
* May need aspiration for small joints or arthroscopy and arthrotomy for large joints
* Empirical antibiotics:
* Vancomycin (alternative can be clindamycin, cephalosporin) - gram-positive cocci (staph and strep)
* Ceftriaxone ( or other 3rd generation cephalosporins - alternative ciproflocaxin - give gentamicin if associated with sepsis) - gram negative infection
* Confirmed organism
* staph aureus/strep: flucloxacillin (or clindamycin
* MRSA: vancomycin
* Gonococcus: ceftriaxone
Antibiotics should be continued IV for 2 weeks or orally 4 more weeks. Gonococcal arthritis only needs treatment for 7-14 days
For septic arthritis associated with prosthetic joints: aggressive debridement, amputation, or implant replacement/revision surgery
144
What is Psoriatic arthritis?
Psoriatic arthritis is an inflammatory arthritis affecting the joints and connective tissue and is associated with psoriasis of the skin and nails
30% of patients with psoriasis also develop psoriatic arthritis
145
What are the clinical subtypes of Psoriatic arthritis?
* Asymmetrical oligoarthritis - inflammation of 5 or fewer joints
* Symmetrical polyarthritis - inflammation of more than 5 joints in a symmetrical fashion (similiar to RA)
* Spondylitis - inflammation of the joints in the spine
* Distal interphalangeal joint arthritis
* Arthritis mutilans - a severe deformity where there is destruction of bone and collapse of digits
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What is the management of Psoriatic arthritis?
Treatment of psoriatic arthritis is with NSAIDs and Disease modifying anti-rheumatic drugs such as methotrexate
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What is Osteoporosis?
Osteoporosis is an osteopaenic disease characterised by fragility fractures
RIsk factors are \>50 for women \>65 for men - female sex
Other risk factors are SHATTERED FAMILY:
* S - Steroid use
* H - Hyperthyroidism, hyperparathyroidism
* A - Alcohol and smoking
* T - Thin (BMI \<22)
* T - Testosterone deficiency
* E - Early menopause
* R - Renal/liver failure
* E - Erosive/inflammatory bone disease
* D - Diabetes
* FAMILY HISTORY
Use FRAX or QFracture to work out 10 year fracture risk (all women aged over 65 and all men over 75) - if it is high it is prudent to investigate further
Diseases associated with osteoporosis - Coeliac disease, IBD, hyperparathyroidism
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What is the investigation to confirm Osteoporosis?
* Gold standard is DEXA scan
* X-rays (wrist, heel, spine, hip) if fractures suspected
* MRI spine ( to look for vertebral fracture)
Investigations to exclude metabolic bone disease:
* Bone profile (calcium, phosphate, albumin, total protein, ALP)
* Vitamin D
* TFTs
* Urinary Free cortisol
* Testosterone
* Bence-Jones Protein
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What is the treatment of Osteoperosis?
* Lifestyle
* reduce risk factors
* Diet, adequate Vit D, calcium, protein
* Regular weight bearing exercise
* Hip protectors in nursing home patients
* Pharma
* First line - bisphosphonates, give weekly - patients should be able to tolerate sitting up for at least 30 minutes after dose and drink with glass of water to reduce risk of developing oseophageal ulcer - Vit D and calcium can also be added
* Second line - Denosumab (monoclonal antibody which inhibit receptors which when activated lead to the maturation of osteoclasts) - Raloxifene (used in postemenopausal women) - HRT - Teriparatide (a parathyroid hormone) - Strontium ranelate
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What is Osteoarthritis?
Osteoarthritis can be thought of as natural wear and tear of joints over time - typical history is of a very insidious onset (progressing over months or years) of joint pain and stiffness in the elderly. Large weight bearing joints are usually affected, such as knee, hip and lumbar spine
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How to distinguish osteoartheritis from inflammatory disease?
Pain in OA is worse with movement and towards the end of the day and morning stiffness is not prolonged usuall under 20 mins
Pain in inflammatory arthritis tends to improve with movement and morning stiffness is prolonged - useful to distinguish lower back pain of osteoarthritis from inflammatory disease i.e ankylosing spoldylitis
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What are the features of osteoarthritis?
joint architecture is damaged
joins display a reduced range of movement and may have fixed deformity. Slight swelling over the joint but shouldn't be particularly hot or red, crepitus may be felt
In hadns, hebrdens and bouchards nodes may be seen which are bony swellings on the distal and prxoimal interpahalngeal joints. respectively
LOSS on X-ray
Loss of joint space, Osteophytes, Subchondral cysts, subarticular sclerosis
