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Familial hypercholesterolaemia — RACP Adult Medicine MCQ

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HardCardiologyFamilial hypercholesterolaemiaRACP Adult Medicine

A 38-year-old man has LDL-cholesterol 7.1 mmol/L, tendon xanthomata and a father who had myocardial infarction at 45 years. He has no secondary cause and his children are being considered for cascade screening. What is the most likely cause?

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Correct answer: E — An inherited pathogenic variant affecting the LDL-receptor pathway

The phenotype strongly suggests familial hypercholesterolaemia, most often due to inherited defects in LDL receptor pathway function. Diet may modify LDL but does not explain tendon xanthomata and premature autosomal-dominant family history. The other mechanisms relate to different endocrine or cardiac disorders.

Reference: Australian Atherosclerosis Society FH guidance; AMH; PBS criteria