Question 1 · Hard
A 6-year-old has recurrent abdominal pain and eruptive xanthomas. Fasting triglyceride is 2,800 mg/dL (31.6 mmol/L), and refrigerated plasma has a creamy layer over a clear lower layer. The patient's post-heparin plasma hydrolyzes triglyceride normally only after normal serum is added to the assay. Which defect is most likely?
- ALipoprotein lipase deficiency
- BApo C-II deficiency
- CApo E2 homozygosity
- DLDL receptor deficiency
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Answer: B · Apo C-II deficiency
A creamy layer over a clear lower layer shows chylomicrons alone, the type I pattern of familial chylomicronemia. Heparin releases lipoprotein lipase into plasma, so its activity can be tested. Here the enzyme is present but works only when normal serum supplies the missing activator, apo C-II. In lipoprotein lipase deficiency, adding normal serum would not restore activity, because the enzyme itself is missing.
- A: Normal serum would not restore activity in lipoprotein lipase deficiency, because the enzyme is missing.
- C: Apo E2 homozygosity causes remnant build-up with a broad beta band, not chylomicronemia in childhood.
- D: LDL receptor deficiency raises LDL cholesterol, not chylomicrons.