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Simon Broome diagnostic criteria for familial hypercholesterolemia
Classifies adults as definite, possible, or unlikely FH using cholesterol thresholds plus clinical/family findings.
Simon Broome diagnostic criteria for familial hypercholesterolemia
Total cholesterol
LDL cholesterol
Tendon xanthomata in patient or a 1st/2nd-degree relative
DNA-confirmed LDLR, APOB, or PCSK9 mutation (patient or relative)
Family history of MI: <60y in 1st-degree relative, or <50y in 2nd-degree relative
Family history of total cholesterol >7.5 mmol/L in a 1st- or 2nd-degree relative
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When to use
- Clinical diagnosis of heterozygous FH in adults presenting with hypercholesterolemia, particularly in the UK/European setting.
Formula
Definite FH: TC >7.5 mmol/L or LDL >4.9 mmol/L, PLUS tendon xanthomata (patient or 1st/2nd-degree relative) or DNA-confirmed mutation. Possible FH: same cholesterol threshold PLUS family history of premature MI or of high total cholesterol in a 1st/2nd-degree relative.
Pearls and pitfalls
- Adult cholesterol thresholds are used here; the original criteria use lower thresholds (TC >6.7, LDL >4.0 mmol/L) for children under 16.
- Designed primarily for use before starting lipid-lowering therapy.