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Biochemistry · Lipoproteins: familial dysbetalipoproteinaemia
Sample itemA 40-year-old man has orange-yellow creases in the palms, tuberoeruptive xanthomas over the elbows, total cholesterol 420 mg/dL and triglycerides 450 mg/dL. Lipoprotein electrophoresis shows a broad beta band, and he is homozygous for apoE2. Which lipoproteins accumulate?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Chylomicron remnants and IDL, because apoE2 binds poorly to hepatic remnant receptors
ApoE on chylomicron remnants and IDL is the ligand for hepatic remnant uptake. The E2 isoform binds receptors poorly, so remnants accumulate, raising cholesterol and triglyceride in similar proportions. Palmar xanthomas (xanthoma striata palmaris) are almost characteristic, and the condition is Fredrickson type III.
Option by option
A. Chylomicrons, because lipoprotein lipase is absent
Absent lipoprotein lipase raises chylomicrons and causes eruptive xanthomas and pancreatitis, not a broad beta band.
B. LDL, because the LDL receptor is absent
LDL receptor absence causes familial hypercholesterolaemia with raised LDL and tendon xanthomas but normal triglyceride.
C. Chylomicron remnants and IDL, because apoE2 binds poorly to hepatic remnant receptors (correct)
Impaired remnant clearance with apoE2 explains the raised cholesterol and triglyceride and the broad beta band.
D. HDL, because apoA-I is deficient
ApoA-I deficiency lowers HDL and does not cause remnant accumulation.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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