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Familial chylomicronaemia syndrome — SCE Endocrinology MCQ

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HardObesity/LipidFamilial chylomicronaemia syndromeSCE Endocrinology

A 44-year-old man has recurrent pancreatitis. Fasting triglycerides are 38 mmol/L, eruptive xanthomata are present and LDL cholesterol cannot be calculated. He has no diabetes and no alcohol intake. What is the most likely diagnosis?

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Correct answer: B — Familial chylomicronaemia syndrome

Very severe fasting hypertriglyceridaemia with pancreatitis and eruptive xanthomata suggests chylomicronaemia. Familial hypercholesterolaemia primarily raises LDL and causes tendon xanthomata. Management relies on very-low-fat diet and specialist lipid care.

Reference: Endocrine Society Lipid Guideline