Pathology > presentation

Question 1

sitosterolemia

Answer 1

mutation of ABCG5 and ABCG8

over absorption of of plant sterols, failure to secret sterols into bile

tendon+subQ xanthomas, increased risk of CHD

Question 2

abetalipoporteinemia

Answer 2

mutations in MTP > no apoB containing lipoproteins (chylomicrons, VLDL, LDL)

vitamin def. fat in stool, developmental delays

Question 3

Tangier Diseasee

Answer 3

Loss of fxn mutation in ABCA1

low HDL > cholesterol CE accumulation oin liver, spleen, tonsils, neurons of periph nerves

enlarged spleens+tonsils, low plasma cholesterol

Question 4

Type I Severe hypertriglyceridemia

Answer 4

Childhood with trigs >2000s

chylomicrons in ecesss due to LPL, apoC2 or C3 defect

cannot offload trigs to peripheral cells

Question 5

Type IIa familiar hypercholesterolemia

Answer 5

CAD at age<60

LDL-R defect leads to increased LDL-C, high TC

Question 6

Type IIb FH (or with metabolic syndrome)

Answer 6

overproduction of ApoB100, VLDL,

Question 7

Type Iv hypertriglyceridemia

Answer 7

often pancreatitis

LPL or apoC3 defect leads to high VLDL, high Trigs

Question 8

Type v hypertriglyceridemia

Answer 8

pancreatitis, usually diabetic

LPL or apoC3 defect leads to excess VLDL AND increased chylo,

Trigs >1000