skip to main content

Familial hypercholesterolaemia — SCE Endocrinology MCQ

Instant feedback + full explanation. One question, done properly.

HardObesity/LipidFamilial hypercholesterolaemiaSCE Endocrinology

A 28-year-old man has untreated LDL cholesterol 7.8 mmol/L, Achilles tendon xanthomata and a father with myocardial infarction aged 42. What is the next diagnostic-family step?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: E — Refer to an FH specialist for DNA and mutation-led cascade testing

Explanation lettering: E = shown as B · B = shown as E

B is correct. Cholesterol elevation plus tendon xanthomata meets definite Simon Broome clinical criteria. NICE recommends specialist DNA testing for possible or definite FH; if a pathogenic variant is found, cascade testing uses that variant rather than general population risk scoring. QRISK should not determine treatment in FH, Achilles ultrasound is not recommended, and normal triglycerides support rather than exclude the phenotype.

Reference: https://www.nice.org.uk/guidance/cg71/chapter/recommendations