协和医学杂志

2019, v.10(04) 387-392

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纯合型家族性高胆固醇血症诊疗进展
Progress in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia

温文慧;匡泽民;吴月;王旭;武文峰;王绿娅;
WEN Wen-hui;KUANG Ze-min;WU Yue;WANG Xu;WU Wen-feng;WANG Lü-ya;Department of Arteriosclerosis,Beijing Anzhen Hospital,Capital Medical University;Beijing Institute of Heart,Lung and Blood Vessel Diseases;Department of Hypertension,Beijing Anzhen Hospital,Capital Medical University;Department of Emergency,Beijing Anzhen Hospital,Capital Medical University;

摘要(Abstract):

家族性高胆固醇血症(familial hypercholesterolemia,FH)是严重遗传代谢性疾病,临床上分为纯合和杂合两种类型,纯合型FH (homozygous FH,HoFH)发病率为1/(16万~100万),被认为是罕见病。HoFH主要特点为极高水平的低密度脂蛋白胆固醇、多部位黄色瘤及早发动脉粥样硬化性心血管疾病,如不及时诊断、早期治疗,青少年期即可发生心肌梗死甚至死亡。近年来,国际上也越来越重视FH的早期诊断和治疗,发布了多项FH指南与共识,我国亦结合国情制定了适合中国人的筛查诊断标准,为更好治疗FH提供了基础。本文就HoFH现有的诊断标准、鉴别诊断筛查和治疗方法进行综述,旨在提高医生对该病的认识。
Familial hypercholesterolemia( FH) is a serious hereditary metabolic disease. It is clinically divided into homozygous and heterozygous. The incidence of homozygous FH( Ho FH) is 1/( 160 000-1 000 000)and considered as a rare disease. Ho FH is characterized by very high levels of low density lipoprotein cholesterol,multi-sited yellow tumors,and atherosclerosis cardiovascular disease. Without prompt diagnosis and early treatment,myocardial infarction and even death can occur in adolescence. In recent years,the international community has paid more and more attention to the early diagnosis and treatment of FH,and issued a number of guidelines and consensus on FH. China has also developed a screening and diagnostic standard suitable for Chinese people in combination with national conditions,which provides bases for better treatment of FH. This article reviewed Ho FH's existing diagnostic criteria,differential diagnostic screening,and treatment methods,to improve physicians' understanding of the disease.

关键词(KeyWords): 家族性高胆固醇血症;罕见病;诊断标准;治疗
familial hypercholesterolemia;rare disease;diagnostic criteria;treatment

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作者(Author): 温文慧;匡泽民;吴月;王旭;武文峰;王绿娅;
WEN Wen-hui;KUANG Ze-min;WU Yue;WANG Xu;WU Wen-feng;WANG Lü-ya;Department of Arteriosclerosis,Beijing Anzhen Hospital,Capital Medical University;Beijing Institute of Heart,Lung and Blood Vessel Diseases;Department of Hypertension,Beijing Anzhen Hospital,Capital Medical University;Department of Emergency,Beijing Anzhen Hospital,Capital Medical University;

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