METABOLIC Flashcards
How is a clinical diagnosis of familial hypercholesterolaemia made?
Using the SMino Brooke criteria:
Total cholesterol (TC) > 7.5 mmol/l and LDL-C > 4.9 mmol/l plus:
for definite FH: tendon xanthoma in patients or 1st or 2nd degree relatives or DNA-based evidence of FH
for possible FH: FHx of MI below age 50 years in 2nd degree relative, below age 60 in 1st degree relative, or a FHx of raised cholesterol levels
Diabetes insipidus
Serum and urina osmolality
Water deprivation test (aka desmopressin stimulation test)
What can be used to distinguish between unilateral adenoma and bilateral hyperplasia in primary hyperaldosteronism?
Adrenal venous sampling
Primary hyperaldosteronism?
Aldosterone:renin ratio (positive if >20)
High resolution CT abdomen or, if normal, adrenal venous sampling
Renal stones
urine dipstick and culture
serum Cr and electrolytes - check renal function
FBC / CRP
calcium/urate
(clotting if percutaneous intervention planned and blood cultures if pyrexial or other signs of sepsis)
Gold standard - Non-contrast CT KUB within 14 hours
Anti-GBM disease
Renal biopsy - IgG deposits along basement membrane
Raised transfer factor secondary to pulmonary haemorrhage
Screening for autosomal dominant polycystic kidney disease
Abdominal USS
Leukaemia
Very urgent FBC (within 48 hours)
myeloma
FBC
Bone profile - Calcium
Peripheral blood film
U&Es
Very urgent protein electrophoresis
bence-jones protein urine test
Bone marrow aspiration
Whole body MRI
Lymphoma
Excision all lymph node biopsy
Paroxysmal nocturnal haemoglobinuria
Flow cytometry
Bladder cancer
Flexibility cystoscopy
Renal stones
- non-contrast CT KUB within 14 hours
Prostate cancer
MRI prostate (multiparametric MRI)
Gold standard for renal cancer?
CT abdomen/pelvis with Iv contrast
