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FH Diagnostic Criteria — EECC MCQ

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ModerateCoronary Artery DiseaseFH Diagnostic CriteriaEECC

A 45-year-old man with a family history of premature CAD (father MI age 42, brother MI age 48) but no personal CV risk factors has total cholesterol 5.5 mmol/L, LDL-C 3.8 mmol/L. The GP suspects familial hypercholesterolaemia (FH). What diagnostic criteria are used for FH?

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Correct answer: A — The Dutch Lipid Clinic Network (DLCN) criteria or Simon Broome criteria — incorporating LDL-C levels, family history, clinical signs (tendon xanthomata, corneal arcus <45 years), and genetic testing; definite FH: DLCN score >8 or genetic confirmation

FH is an autosomal dominant disorder (LDLR, APOB, or PCSK9 mutations) affecting ~1 in 250 people. Diagnostic criteria: (1) Dutch Lipid Clinic Network (DLCN): scoring system combining family history (premature CVD in 1st-degree relatives), clinical history (premature CVD in the patient), physical signs (tendon xanthomata — pathognomonic, corneal arcus <45y), LDL-C level, and genetic testing. Score: definite >8, probable 6-8, possible 3-5. (2) Simon Broome criteria (UK): definite = tendon xanthomata + elevated LDL-C, or genetic confirmation; probable = elevated LDL-C + family history of premature CVD or elevated cholesterol. The ESC/EAS 2019 Dyslipidaemia Guidelines recommend: (1) clinical diagnosis using DLCN/Simon Broome; (2) genetic testing for confirmation and cascade screening; (3) LDL-C targets: <1.8 mmol/L for FH with ASCVD (very high risk), <2.6 mmol/L for FH without ASCVD (high risk). Cascade screening of all first-degree relatives is essential.

Reference: ESC/EAS (2019): Dyslipidaemia Guidelines; NICE FH Guideline CG71