释义 adj. 家族的；家庭的；遗传的
例句 If a disease has a genetic basis, it will occur in familial aggregates.
释义 n. 血胆固醇过多
短语 hypercholesterolemia patient 高胆固醇血症患者
primary hypercholesterolemia 原发性高胆固醇血症
例句 The familial hypercholesterolemia could increase the risk of premature coronary heart disease.
作者： Barbara Iyen
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.