Endocrinology/metabolic Flashcards
How does diabetic peripheral sensory neuropathy present?
Glove and stocking distribution
Numbness, pain, paraesthesia
Significant motor neuropathy uncommon
Most common cause of SIADH?
Other causes
-most common: IDIOPATHIC.
Others:
-CNS ie tumour, infection, GBS, MS
-Pulmonary ie tumour, pneumonia, CF
-Drugs ie vasopressin, NSAIDs, diuretics, carbamazepine, TCAs, SSRIs,
-Surgery
Older patient, has AF, has irregular, bumpy, nodular thyroid and minimal tremor. Most likely Dx?
Toxic multinodular goitre
Most common cause of hypOthyroidism in developing countries?
Hashimoto’s thyroiditis
Younger patient, with smooth diffuse goitre marked hyperthyroid symptoms, likely Dx?
Grave’s disease!
-younger age group
-smooth diffuse goitre
-more marked syx than for toxic MNG
What is Grave’s disease?
Autoimmune disorder - TSH receptor stimulating antibodies - excessive secretion & hyperplasia causing toxic diffuse goitre
Risk factors for Grave’s?
FH or personal hx of autoimmune disorders ie T1DM
What is toxic multinodural goitre caused by?
Risk factors?
2 or more autonomously functioning thyroid nodules (adeonomas) that secrete thyroid hormones
-RF: age (>60), iodine deficiency ie Denmark
TSH and T3/4 levels in hyperthyroidism?
-subclinical hyperthyroidism?
-Low TSH, raised T3/4
-Subclinical: low TSH, normal T3/4
Symptoms of hypOcalcaemia? & 2 signs?
Paraesthesia
Tetany
Carpopedal spasm (wrist flexing & fingers drawn together)
Muscle cramps
-Chvostek’s sign - twitching of face after tapping on facial nerve
-Trousseau’s sign - carpopedal spasm after compression of upper arm with BP cuff
ECG changes in hypercalcaemia?
Shortened QT
Severe: J waves may be seen
3 things that characterise DKA?
-blood glucose >11 (or known DM)
-Ketonaemia >/=3mmol or significant ketonuria (>2 on urine stick)
-acidosis: pH <7.3 or bicarbonate <15
How to calculate plasma osmolality?
How high should it be for DKA?
2Na + urea + glucose
>290 for DKA
Cut off HbA1c to diagnose diabetes mellitus?
42 (6.5%)
70 y/o woman - muscle weakness and diffuse bone pain. Reduced serum calcium. Most likely Dx?
Osteomalacia
Patient with PVD started on enalapril for HTN. Renal impairment develops 2 weeks later. Most likely Dx?
Renal artery stenosis
Treatment options for hyperhidrosis?
-Topical: 1st line = aluminium chloride. Others: Iontophorrsis, Botox, anticholinergics
-Systemic: anticholinergics, CCBs
-Surgical: Symphathectomy, surgical excision/liposuction, laser
4 aspects of SIADH?
-hyponatraemia (<125)
-elevated urine osmolality (>500)
-excess urine sodium excretion (>20)
-decreased serum osmolality (<260)
Cause of T1DM?
Loss of beta cells (which produce insulin) in the islets of Langerhans in the pancreas —>insulin deficiency
Cause of T2DM?
Insulin resistance or reduced sensitivity -most commonly related to central obesity
Most common cause of primary hyperparathyroidism?
Solitary parathyroid gland adenoma
Causes of primary hypoparathyroidism?
-Failure of the gland from autoimmune causes (ie pernicious anaemia, vitiligo, congenital)
-Removal of/trauma to the parathyroid glands ie thyroid surgery (note NOT secondary hypoparathyroidism - this is distinct state in which PTH levels are low in response to primary process that causes hypercalcaemia)
What is secondary hyperparathyroidism?
Most common causes?
-Excessive secretion of PTH by parathyroid glands in response to hypOcalcaemia
-Chronic renal failure, low Vit D
What is pseudohypoparathyroidism?
Rare autosomal dominant disorder - target cells fail to respond to PTH
Acromegaly - cause?
-not common presentation symptoms?
-other symptoms?
-Increased unregulated growth hormone production, usually from GH secreting pituitary tumour
-Headaches, visual field defects (usually bitemporal hemianopsia from pressure on optic chiasm)
-Enlargement of extremities, hyperhidrosis, coarsening facial features, frontal bossing, macroglossia, arthritis, OSA, glucose intolerance, HTN, CHF…
65 y/o, joint pain, constantly tired, polydipsia, tanned skin. Hepatomegaly on examination. Dx?
Haemachromatosis
Triad of (late onset) symptoms of haemachromatosis?
Related cancer?
-liver cirrhosis, diabetic mellitus, skin pigmentation
-hepatocellular carcinoma
Most common cause of chronic pancreatitis?
Excessive alcohol consumption
Most common cause of hypothyroidism in developed countries?
And worldwide?
-Hashimoto thyroiditis
-worldwide: iodine deficiency
What is Riedel (fibrosing) thyroiditis?
How does it present?
What does the thyroid feel like?
-Rare disease - chronic inflammation and fibrosis of thyroid.
-Presents with hypOthyroidism, and obstructive symptoms ie dyspnoea, dysphagia, and hoarseness
-thyroid feels ‘hard as wood’, non tender
What is subacute (de Quervain) thyroiditis?
-transient inflammatory thyroid disease, characterised by PAIN & TENDERNESS of gland. Result of viral infection, usually 2-8 weeks beforehand.
-presents as hypERthyroidism
Most frequent thyroid neoplasm?
How does it present?
Papillary thyroid carcinoma
Painless, hard thyroid mass, with enlargement of regional cervical lymph nodes
Symptoms of Cushing’s disease?
What conditions may they do on to have?
Weight gain with central obesity, facial rounding, thinning of skin (striae), bruising, proximal muscle weakness
-metabolic complications: diabetes mellitus, dyslipidaemia, HTN
4 tests you can do for Cushing’s (hypercortisolism)?
-late night salivary cortisol
-1mg overnight low-dose dexamethasone suppression testing
-24-hour urinary free cortisol
-48-hour 2mg dexamethasone suppression testing
25 y/o woman. New-onset headaches, fatigue, constipation. No flushing/weight changes. Dad had kidney stones
Multiple endocrine neoplasia type 1
48 y/o man. 4/12 tired all the time, reduced appetite, weight loss, increased skin pigmentation including oral mucosa. Dx?
Addison’s disease.
(NB haemochromatosis rarely involves mucosa!
Test to diagnose Addison’s?
ACTH stimulation test
What is congenital adrenal hyperplasia ?
Autosomal recessive metabolic disorder - most cases caused by 21-hydroxylase deficiency —> deficient cortisol and/or aldosterone. In response - increased ACTH secretion
Treatment for congenital adrenal hyperplasia?
Lifelong replacement of hydrocortisone. Plus salt-retaining steroid ie FLUDROCORTISONE
3 main symptoms of diabetes insipidus?
Hallmark clinical test ?
Polyurea, polydipsia, nocturia
-urine specific gravity of 1.005 or less, and urine osmolality <200
LH levels low or raised in eating disorders?
Low
Syndrome caused by Neisseria meningitidis that leads to DIC, haemorrhage into adrenal glands and shock
Waterhouse-Friderichsen syndrome
Older pt with weight gain, generalised weakness and bruising. Overnight dexamethasone suppression test fails to suppress cortisol levels. Plasma ACTH levels undetectable. Dx?
Primary Cushing’s (Adrenal Adenoma)
-often discovered incidentally
-usually presents as subclinical Cushing’s syndrome
-undetectable ACTH = very likely AA
Difference between Cushing’s syndrome and Cushing’s disease?
Cushing’s syndrome = hormone disorder caused by high levels of cortisol ie from glucocorticoid drugs, or adrenal adenomas
Cushing’s disease = PITUITARY ADENOMA, that produces large amounts of ACTH, which in turn elevates cortisol (is the most common cause of Cushing’s syndrome!)
40 y/o woman presents with muscle cramps, raised BP, high Na and low K. Dx?
Conn’s Syndrome
Symptoms of Conn’s syndrome?
-Fatigue, muscle weakness, cramps, headaches, palpitations (from HypOkalaemia)
-Polydipsia/polyuria from diabetes insipidus
What Dx should always be considered in a patient (not on diuretics) with a hypokalaemic alkalotic hypertension?
Conn’s syndrome
Main symptoms of primary hyperparathyroidism?
Vague symptoms (most minimally symptomatic): general weakness, fatigue, poor concentration, depression, kidney stones
What is pseudoparathyroidism and how does it present?
-inherited resistance to parathyroid hormone
-unusual development and skeletal defects: short stature, round face, shortened 4th metacarpals, obesity, dental hypoplasia, soft tissue calcifications
Complications of Haemaochromatosis?
Cardiomyopathy
Hypogonadism
Hypothyroidism
Hepatocellular carcinoma
Where in bowel is most common place for colorectal cancer?
Rectum (45%)
FIT test cut-off (numerical value) to refer adults using urgent suspected cancer pathway?
> /= 10ug Hb/f faeces
What is primary sclerosing cholangitis?
What disease is it strongly linked to?
Rare disease, unknown aetiology - CHRONIC INFLAMMATION & FIBROSIS OF BILE DUCT.
IBD - particularly UC.
Symptoms of primary sclerosing cholangitis ?
Early syx: pruritis, fatigue
May also present with fevers, night sweats and RUQ pain
What is primary biliary cirrhosis?
Related diseases?
Autoimmune disease of liver with destruction of bile canaliculi.
-osteoporosis, sicca syndrome
Presentation of primary biliary cirrhosis?
Commoner in women 30-65 y/o
Fatigue, pruritis, stearorhoea, jaundice, hyperpigmentation, hepatomegaly, splenomegaly
Antibodies in primary biliary cirrhosis?
Antimitochondrial antibodies
Topical treatment for anal fissure?
If very painful- topical anaesthetic for a few days
If persisting symptoms - topical GTN or diltiazem for 6-8 weeks
Conservative Mx of anal fissure? Other options if conservative and topical options fail?
-improve diet (high fibre, increase fluids)
-sitz baths
Botox toxin injections (to relax sphincter and allow fissure to heal)
How is campylobacter usually acquired?
Symptoms?
Complications
-Undercooked poultry in developed countries
-Diarrhoea - can be watery/bloody, associated crampy abdo pain
-reactive arthritis, Guillain-Barré syndrome
Yersinia enterocolitica - usual food culprit?
Symptoms?
Pork meat/intestine
Bloody diarrhoea, can mimic Crohn’s or appendicitis as causes colitis
Complications of H pylori?
-Peptic ulcer disease
-Gastric MALT lymphoma
-Gastric adenocarcinoma
-Menetrier’s disease
-Coronaritis (inflammation of coronary arteries)
-Iron deficiency anaemia
Note: NOT associated with oesophageal carcinoma
Symptoms of Glucagonoma? (Neuroendocrine tumour of pancreatic Islet cells that secrete glucagon)
‘6 Ds’ !!
Diabetes
Dermatosis (necrolytic migratory erythema)
Deep vein thrombosis
Depression
Diarrhoea
Decreased weight
How to calculate plasma osmolarity?
Normal range? Number for DKA?
2Na + Urea + Glucose
(2 salt, 1 waste, 1 sugar)
Normal range 285-295
Should be >290 in DKA
If >320 & not significant ketones, likely HHS
How does HHS present?
Hypovolaemia (grossly dehydrated)
Marked hyperglycaemia >30
No significant hyperketonaemia
Osmolality >320
(More common in elderly, present extremely unwell)
Thyroid enlargement in 30 y/o with facial flushing and diarrhoea. Likey Dx?
Medullary thyroid carcinoma
In which conditions should HbA1c not be used to screen patients for T2DM?
HIV infection (underestimates hyperglycaemia)
Pregnant/up to 2m postpartum
Acutely ill
On corticosteroids
End-stage renal disease
Azure pancreatic damage
What is pseudohyperparathyroidism caused by and how does it present?
-resistance to parathyroid hormone
-causes hypocalcaemia, hyperphosphataemia, raised PTH levels, and abnormal skeletal defects including short stature, rounded face, short metacarpals
What do loop diuretics and corticosteroids cause in terms of potassium?
Hypokalaemia
If both TSH and T4 raised, what should you be suspicious of?
A TSH-secreting pituitary adenoma
If both TSH and T4 raised, what should you be suspicious of?
A TSH-secreting pituitary adenoma
45 y/o with muscle pains, fatigue, polyuria, polydipsia. Has low potassium. Likely Dx?
CONN’S SYNDROME!
-increased aldosterone secretion from adrenal glands
-suppressed plasma renin activity
-HTN
-HypOkalaemia (causes fatigue, muscle weakness, cramping, headaches, palpitations)
-may have polydipsa and polyuria from hypokalaemia-induced nephrogenic diabetes insipidus
How is haemachromatosis inherited?
Autosomal recessive (abnormal HFE gene)
40 y/o with joint pains, impotence, increased skin pigmentation. Hepatomegaly. Dx?
Haemachromatosis - 6 Hs!
Hyperpigmentation
Hepatomegaly
Heart failure
Hypogonadotrophic hypogonadism
High sugar (diabetes)
Harthralgia!? Joint pains
What is Chvostek’s sign and what is used to look for?
Tap on facial nerve - facial muscle contractions
Hypocalcaemia
ECG changes in hypercalcaemia?
Shortened QT
If severe - may see J waves
What electrolyte abnormalities does rhabdomyolysis cause?
Hyperphosphataemia
Hyperkalaemia
HypOcalcaemia
Hypoalbuminaemia
Hyperuricaemia
34 y/o with anorexia, weight loss, nausea/vomiting and intermittent abdominal pain. Grey-brown skin tinge. Likely Dx?
Addison’s disease
-adrenocortical insufficiency affecting glucocorticoid and mineralocorticoid function
-hyperpigmentation/ vitiligo
Weakness, fatigue, poor appetite, weight loss, nausea/vomiting, myalgia, HYPOTENSION
How to calculate anion gap?
(na + K) - (HCO3 + Cl)
Young man with headaches, palpitations, diaphoresis, severe hypertension. Dx?
Phaeochromocytoma
3 ways to diagnose diabetes?
Fasting glucose >7
Random glucose >11.1
HbA1c >48
Bolus calculation for fluids for child with DKA?
10ml/kg (as bolus over 15 mins)
Treatment of HHS?
Fluid resuscitation (0.9%NaCl)
Low dose insulin 0.05units/kg/hour (only start if no longer falling with IVF, or immediately if there is significant ketonaemia)
Prophylactic anticoagulation
How to diagnose DKA?
-Significant ketonuria (>=2) or blood ketone >3
-Blood glucose >11 or know DM
-Bicarbonate <15 OR pH <7.3
NB usually T1DM but can occur in T2
What does Addison’s disease do to Na & K?
HypERkalaemia
HypOnatraemia
What is the treatment of choice for mild-moderate SIADH or chronic hyponatraemia?
FLUID RESTRICTION
How does thyroid storm present?
Volume depletion
Congestive heart failure
Confusion
N&V
Extreme agitation
Treatment of thyroid storm?
Supportive treatment
-cooling
-correct volume status
-Respiratory support
-treatment of underlying sepsis
Tests to diagnose Cushings?
OVERNIGHT dexamethason suppression test
Or
24H urinary free cortisol test
Best diagnostic investigation for acromegaly?
Insulin like growth factor-1 level
What conditions are anticardiolipin antibodies found in?
Antiphospholipid syndrome
SLE
ITP
Rheumatoid arthritis
Psoriatic arthritis
Sjögren’s syndrome
RIPASS
Insulin rate of infusion for HHS?
0.05units/kg/hour (should mostly fall with fluids, and don’t want to fall by more than 5mmol/L/hour
Triad of milk-alkali syndrome?
Cause?
Hypercalcaemia
Renal failure
Metabolic acidosis
Large amounts of calcium / antacids (absorbable alkali)
