Simon Broome Diagnostic Criteria for Familial Hypercholesterolaemia
UK criteria for diagnosing familial hypercholesterolaemia (FH). Requires total cholesterol >7.5 mmol/L (or LDL >4.9 mmol/L in adults) PLUS either tendinous xanthomata in patient/relative OR known mutation. Used by NICE CG71 for FH identification.
Score interpretation
Criteria not met — the cholesterol criterion is required. A relative found to carry the family's FH mutation by cascade testing has FH regardless (NICE CG71).
→ Assess for other causes of hypercholesterolaemia; calculate QRISK3; standard lipid-lowering therapy per cardiovascular risk; reassess if additional family history or xanthomata identified; consider Dutch Criteria for further scoring
Cholesterol criterion plus a family history of premature MI or of raised cholesterol. NICE CG71: refer for DNA testing.
→ Refer to lipid clinic; genetic testing; cascade screening first-degree relatives; high-intensity statin; lifestyle optimisation; target LDL <2.5 mmol/L; annual review of lipids, LFT, CK; HEART UK helpline and resources for patient
Cholesterol criterion plus tendon xanthomata (patient or relative) or a confirmed LDLR / APOB / PCSK9 mutation.
→ Definite FH diagnosis; lipid clinic referral mandatory; genetic testing (if not already confirmed); notify and screen all first-degree relatives; high-intensity statin + ezetimibe; PCSK9 inhibitor if LDL not at target on maximal oral therapy; Lp(a) measurement; CVD risk stratification; register at national FH register; HEART UK involvement
Interpretation bands for the Simon Broome FH. Apply clinical judgement and local guidance.
References
- Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ. 1991;303(6807):893–896.
- NICE CG71. Identification and management of familial hypercholesterolaemia. 2008 (updated 2017).
Related
Curated clinical cross-links plus same-class fallbacks.
- Simvastatin with ezetimibe · HMG-CoA reductase inhibitor + cholesterol absorption inhibitor
- Bempedoic acid with ezetimibe · ATP-citrate lyase inhibitor + cholesterol absorption inhibitor
- Fluorescein Sodium 2% Eye Drops · Diagnostic ophthalmic dye
- Indocyanine Green (Intravitreal Chromovitrectomy) · Diagnostic Dye — Vitreoretinal Surgery / ICG Angiography
- Fluorescein sodium · Ophthalmic diagnostic dye
- Fluorescein with lidocaine · Topical anaesthetic + diagnostic dye
- Peripheral Arterial Disease · NICE NG19 2012 / ESVS 2017
- Carotid Artery Disease · NICE CG68 / ESVS 2018
- Varicose Veins Management · NICE CG168 2013
- Venous Leg Ulcer Management · NICE NG204 2022
- Acute Heart Failure · ESC 2021 Heart Failure Guidelines; NICE NG106
- NSTEMI / Unstable Angina · ESC 2020 NSTEMI Guidelines; NICE NG185
Decision support only — verify against a current formulary, NICE, or your local guideline before clinical use.