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家族性高胆固醇血症（ FH）是一种常染色体单基因显性遗传性疾病，其主要的临床特征为血浆低密度脂蛋白胆固醇（ LDL－C）水平明显升高、肌腱或皮肤黄色瘤、早发冠状动脉粥样硬化和冠状动脉粥样硬化性心脏病等。人类枯草溶菌素转化酶9（ PCSK9）基因是 FH 的致病基因之一。PCSK9通过调节低密度脂蛋白受体在肝脏降解，从而间接调节LDL－C水平。 PCSK9基因突变可分为失功能性突变和功能获得性突变，是目前降脂药物的研究热点。“,”Familial hypercholesterolemia(FH) is an autosomal monogenic dominant genetic disease,the main clinical features of which are significant plasma low-density lipoprotein cholesterol ( LDL-C ) levels increase,tendon or yellow skin tumor,early coronary atherosclerosis and coronary heart disease,etc.Propro-tein convertase subtilin/kexin type 9(PCSK9) is one of the virulence genes of FH.PCSK9 regulates the LDL-C degradation in liver,thus indirectly regulates LDL-C level.PCSK9 gene mutation includes function losing mutation and function acquiring mutation,which is currently a hotspot of lipid-lowering drugs research.