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首页 > 医学词汇大全 > familial hypercholesterolemia
familial hypercholesterolemia

心血管

关键词心血管 疾病 遗传病

词汇介绍

拓展阅读

解析

Familial 英 [fə'mɪljəl]  美 [fə'mɪlɪəl] 

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. 

如果一种疾病有遗传基础, 它将以家族聚集的形式发生。

 

Hypercholesterolemia[,haɪpəkə,lɛstərə'limiə] 

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. 

家族性高胆固醇血症可以增加早发冠心病的危险性。


概述

家族性高胆固醇血症(FH)是一种以血清总胆固醇(total cholesterol,TC)和低密度脂蛋白胆固醇(low-density 1ipoprotein cholesterol,LDL-C)浓度增高,皮肤或肌腱多发黄色瘤及早发冠状动脉(冠脉)粥样硬化性心脏病(冠心病)为特征的常染色体显性遗传病。患者循环系统中显著升高的LDL-C浓度引起动脉粥样硬化快速进展,进而导致冠状动脉粥样硬化性心脏病(冠心病)。临床中,未经治疗的FH患者常在年轻时以首次冠心病事件就诊。FH患者需要采取包括改善生活

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

发表时间:2019-08-01

影响因子:4.3

作者: Barbara Iyen

期刊:Atherosclerosis

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.

译文

家族性高胆固醇血症(FH)是一种常见的单基因常染色体显性疾病,从出生时就会引起低密度脂蛋白(LDL)胆固醇升高。它在英国影响多达250,000人,估计普通人群中有1/270个人具有杂合形式。未经治疗的FH与冠心病(CHD)和过早死亡的风险显着相关,但降脂治疗可改善预后,降低冠心病患者的风险,并将杂合子FH治疗患者的全因死亡率降低至少44%中等至高强度他汀类药物。在英格兰,2017年更新的国家健康和护理卓越研究所(NICE)指南建议使用Simon-Broome,荷兰脂质诊所网络(DLCN)对初级保健中胆固醇水平升高的个体进行FH临床诊断评估,或胆固醇超过> 99%。在初级保健中进行临床FH诊断后,应将这些个体转诊给脂质专家诊断,管理和筛查亲属。在专家转诊和诊断后,FH诊断可以使用特定疾病代码记录在英国初级保健电子健康记录(EHR)中。