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Familial chylomicronaemia syndrome — SCE Endocrinology MCQ

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HardObesity and lipid disordersFamilial chylomicronaemia syndromeSCE Endocrinology

A 33-year-old man has recurrent pancreatitis with fasting triglycerides 22 mmol/L despite abstaining from alcohol and improving HbA1c. He had eruptive xanthomata in childhood and both parents are unaffected. ApoB is low. What is the most likely diagnosis?

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Correct answer: C — Familial chylomicronaemia syndrome

Familial chylomicronaemia syndrome is best because childhood severe triglyceridaemia, recurrent pancreatitis, eruptive xanthomata and low apoB suggest familial chylomicronaemia syndrome. The alternatives are less appropriate because FH raises LDL; polygenic disease is often adult and multifactorial; sitosterolaemia has plant sterol accumulation; diabetes alone does not explain childhood disease after correction. The SCE teaching point is to integrate the clinical pattern, biochemistry and context rather than treating an isolated result.

Reference: Endocrine Society hypertriglyceridaemia guidance; NICE NG238