家族性高胆固醇血症的药物治疗现状和进展

Current status and advances in the pharmacotherapy of familial hypercholesterolemia

家族性高胆固醇血症(FH)是基因突变所致血脂紊乱,常见的致病基因有低密度脂蛋白(LDL)受体基因、载脂蛋白B(Apo B)基因、前蛋白转换酶枯草溶菌素9型(PCSK9)基因等。FH是早发冠心病的重要原因。诊断主要根据血清LDL-C升高、早发冠心病、黄色瘤、基因检查结果等。目前,治疗FH的药物主要是他汀类,可联合胆固醇吸收抑制剂或胆汁酸螯合剂。近年,多种新型降胆固醇药物已被批准用于FH的治疗,包括PCSK9抑制剂、微粒体甘油三酯转运蛋白(MTTP)抑制剂和Apo B合成抑制剂等。

Familial hypercholesterolemia（FH）is a genetic lipid metabolic disorder. Common pathogenic genes of FH include low-density lipoprotein（LDL）receptor gene,apolipoprotein B（Apo B）gene,proprotein convertase subtilisin/kexin type 9（PCSK9）gene,etc. FH is a major cause of premature coronary artery disease. The diagnosis of FH is based on an increase in serum LDL cholesterol（LDL-C）,premature cardiovascular diseases,xanthomas and genetic test results. Statins are the mainstay of the treatment of FH.The combination of statin and cholesterol absorption inhibitor or bile acid sequestrant is recommended. Recently,several novel cholesterol-lowering drugs have been approved for the treatment of FH,including PCSK9 inhibitor,microsomal triglyceride transfer protein（MTTP）inhibitor,Apo B synthesis inhibitor,et al.