家族性高胆固醇血症:指南和疗法  

Familial hypercholesterolemia:guidelines and therapies

作　　者：张禾 干伟[1] ZHANG He;GAN Wei(Department of Laboratory Medicine,West China Hospital of Sichuan University,Chengdu,610041,China)

机构地区：[1]四川大学华西医院实验医学科,成都610041

出　　处：《临床心血管病杂志》2021年第4期293-298,共6页Journal of Clinical Cardiology

基　　金：四川省科技厅项目(No:2019YJ0061)。

摘　　要：家族性高胆固醇血症(FH)是一种主要由编码低密度脂蛋白代谢相关蛋白的基因突变所引起的遗传性疾病,主要特征为低密度脂蛋白胆固醇升高以及早发性心血管疾病。FH的发病率较高,诊断率相对较低,早期诊断和药物干预对预防和延缓FH患者心血管事件的发生尤为重要。Familial hypercholesterolemia(FH)is a genetic disease mainly caused by mutations in genes encoding proteins related to low-density lipoprotein metabolism.It is characterized by elevated low-density lipoprotein cholesterol and early-onset cardiovascular disease.The incidence rate of FH is relatively high whereas the diagnosis rate is relatively low.Early diagnosis and drug intervention are particularly important for preventing and delaying the occurrence of cardiovascular events in FH patients.

关 键 词：家族性高胆固醇血症 指南 治疗方法 

分 类 号：R589.2[医药卫生—内分泌]