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Background and aims: Familial hypercholesterolaemia (FH) is a major cause of premature heart disease but remains unrecognised in most patients. This study investigated if a systematic primary care-based approach to identify and manage possible FH improves recommended best clinical practice. Methods: Pre- and post-intervention study in six UK general practices (population 45,033), which invited patients with total cholesterol >7.5 mmol/L to be assessed for possible FH. Compliance with national guideline recommendations to identify and manage possible FH (repeat cholesterol; assess family history of heart disease; identify secondary causes and clinical features; reduce total & LDL-cholesterol; statin prescribing; lifestyle advice) was assessed by calculating the absolute difference in measures of care pre- and six months post-intervention. Results: The intervention improved best clinical practice in 118 patients consenting to assessment (of 831 eligible patients): repeat cholesterol test (+75.4%, 95% CI 66.9–82.3); family history of heart disease assessed (+35.6%, 95% CI 27.0–44.2); diagnosis of secondary causes (+7.7%, 95% CI 4.1–13.9), examining clinical features (+6.0%, 95% CI 2.9–11.7). For 32 patients diagnosed with possible FH using Simon-Broome criteria, statin prescription significantly improved (18.8%, 95% CI 8.9–35.3), with non-significant mean reductions in cholesterol post-intervention (total: −0.16 mmol/L, 95% CI -0.78-0.46; LDL: −0.12 mmol/L, 95% CI -0.81-0.57). Conclusions: Within six months, this simple primary care intervention improved both identification and management of patients with possible FH, in line with national evidence-based guidelines. Replicating and sustaining this approach across the country could lead to substantial improvement in health outcomes for these individuals with very high cardiovascular risk.

More information Original publication






Publication Date





54 - 60


Project No. 361. PI: Stephen Weng


Primary health care; Familial hypercholesterolaemia; Family health; Medical genetics