Question 1 · Hard
A 9-year-old girl in a UAE hospital has her third attack of acute pancreatitis. Her parents are first cousins. Her drawn blood looks pink and milky, and her retinal vessels look pale (lipemia retinalis). Fasting results: triglyceride 31 mmol/L (2,746 mg/dL); total cholesterol 7.2 mmol/L (278 mg/dL). After the plasma stands overnight at 4 °C, a thick creamy layer floats on a clear infranatant. Post-heparin lipoprotein lipase activity is absent, even when the assay is supplied with apolipoprotein C-II. Thyroid, kidney and liver tests and fasting glucose are normal. The most likely diagnosis is:
- AFamilial lipoprotein lipase deficiency
- BFamilial dysbetalipoproteinemia
- CFamilial type V hyperlipoproteinemia
- DInherited apolipoprotein C-II deficiency
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Answer: A · Familial lipoprotein lipase deficiency
A creamy layer over a clear infranatant after refrigeration means that chylomicrons alone are increased, the Fredrickson type I pattern. Chylomicrons are rich in triglyceride but carry little cholesterol, which fits a triglyceride of 31 mmol/L with only a moderately raised cholesterol, and such levels cause recurrent pancreatitis and lipemia retinalis. Type I disease in childhood with consanguineous parents points to a recessive defect in chylomicron clearance. Lipase activity that stays absent even when its activator, apolipoprotein C-II, is supplied shows that the enzyme itself is missing, whereas in apo C-II deficiency added C-II restores activity. Type V would leave a turbid infranatant from extra VLDL, and dysbetalipoproteinemia gives turbid plasma with a broad beta band and similar rises in cholesterol and triglyceride.
- B: Dysbetalipoproteinemia gives a broad beta band with cholesterol and triglyceride raised about equally.
- C: Type V adds VLDL, which leaves the infranatant turbid rather than clear.
- D: In apo C-II deficiency the enzyme is normal, so supplying C-II restores lipase activity.