家族性高胆固醇血症的治疗研究现状及进展  

Treatment of familial hypercholesterolemia:current status and progress

作　　者：杨恩普 刘曦 邓辉胜(综述)[1] 晋军 余洋(审校) YANG Enpu;LIU Xi;DENG Huisheng;JIN Jun;YU Yang(Department of General Medicine,First Affiliated Hospital of Chongqing Medical University,Chongqing 400016,China;Department of Cardiovascular Medicine,Dianjiang County People’s Hospital,Chongqing 408399,China;Department of Cardiovascular Medicine,the Second Affiliated Hospital of Army Medical University,Chongqing 400037,China)

机构地区：[1]重庆医科大学附属第一医院全科医学科,400016 [2]重庆市垫江县人民医院心血管内科,408399 [3]陆军军医大学第二附属医院心血管内科,400037

出　　处：《重庆医学》2023年第8期1230-1235,1241,共7页Chongqing medicine

基　　金：国家自然科学基金青年科学基金项目(82000295)。

摘　　要：家族性高胆固醇血症(FH)是一种常见的遗传代谢性疾病,其最主要的特征为低密度脂蛋白胆固醇(LDL-C)水平从出生之后就较正常水平明显升高,从而提高了动脉粥样硬化性心血管疾病早发的风险。这极大影响了患者的生活质量及寿命。目前,在传统的降脂疗法(LLT)基础上,随着前蛋白转化酶枯草溶菌素9(PCSK9)单克隆抗体在临床上的应用,FH患者血浆LDL-C水平得到进一步控制。尽管近年对该疾病的治疗取得了一定进展,但仍有大量患者无法达到治疗目标。本文从FH的特征、国内外指南及患者治疗现状入手,围绕PCSK9、血管生成素样蛋白3(Angptl3)等其他潜在的治疗靶点,对FH患者目前应用及尚在进行研发的降脂疗法和最新进展进行综述。Familial hypercholesterolemia(FH)is a common genetic metabolic disease.Its main feature is that the level of low density lipoprotein cholesterol(LDL-C)is significantly higher than the normal level after birth,thus increasing the risk of early onset of atherosclerotic cardiovascular disease.It has been shown to greatly affect both the quality of life and the survival of patients.Currently,on the basis of traditional lipid-lowering therapy(LLT),with the clinical application of the monoclonal antibodies of pro-protein convertase subtilisin/kexin type 9(PCSK9),the plasma LDL-C levels of FH patients have been further controlled.Although some progress has been made in the treatment of this disease in recent years,a substantial proportion of patients still cannot achieve the treatment targets.Starting with the characteristics of FH,domestic and foreign guidelines and the treatment status of patients,and surrounding the potential therapeutic targets such as PCSK9,Angptl3 and others,this article reviewed the effect and latest progress of LH therapy currently applied and still under development in FH patients.

关 键 词：家族性高胆固醇血症 低密度脂蛋白-胆固醇 降脂治疗 综述 

分 类 号：R589.2[医药卫生—内分泌]