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Familial hypercholesterolaemia presenting with ACS — SCE Acute Medicine MCQ

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ModerateClinical GeneticsFamilial hypercholesterolaemia presenting with ACSSCE Acute Medicine

A 38-year-old man is admitted with NSTEMI. He has tendon xanthomata and his untreated LDL cholesterol is 7.2 mmol/L. His father died suddenly at 45. What would you advise this patient?

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Correct answer: E — Arrange specialist lipid review and cascade testing for relatives

Premature coronary disease, tendon xanthomata, very high LDL and family history suggest familial hypercholesterolaemia. Specialist lipid management and cascade testing identify affected relatives before events occur. Lifestyle advice is important but not sufficient as sole secondary prevention. The pearl is that an ACS admission can be the first opportunity to diagnose an inherited lipid disorder.

Reference: NICE CG71 Familial hypercholesterolaemia