Risk of cardiovascular disease outcomes in primary care subjects with familial hypercholesterolaemia: A cohort study复制标题

家族性高胆固醇血症的初级保健受试者的心血管疾病预后风险: 一项队列研究

Familial hypercholesterolemia (FH) is a common monogenic autosomal dominant disorder causing raised low-density lipoprotein (LDL) cholesterol from birth. It affects up to 250,000 individuals in the UK, with an estimated prevalence of 1/270 individuals in the general population with the heterozygous form. Untreated FH is associated with a substantially higher risk of coronary heart disease (CHD) and premature death, but lipid-lowering therapy improves prognosis, reducing risk of coronary heart disease and all-cause mortality by at least 44% in patients with heterozygous FH treated with moderate-to high-intensity statins.In England, the National Institute for Health and Care Excellence (NICE) guidelines, updated in 2017, recommend that individuals with raised cholesterol levels in primary care are assessed for a clinical diagnosis of FH using Simon-Broome, Dutch Lipid Clinic Network (DLCN), or cholesterol above > 99th percentile. Following a clinical FH diagnosis in primary care, these individuals should be referred for lipid specialist diagnosis, management and screening relatives. The FH diagnosis can be recorded in UK primary care electronic health records (EHRs) using specific disease codes, following specialist referral and diagnosis.

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