家族性高胆固醇血症(FH)是由低密度脂蛋白受体(LDLR)基因缺陷引起的一种常染色体显性遗传疾病。LDLR基因发生突变,影响LDLR与低密度脂蛋白胆固醇(LDL-C)的结合,使LDL-C不能正常代谢,造成血浆胆固醇浓度异常升高并在组织内过多积聚[1]。纯合子发病率为百万分之一,杂合子发病率为 Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused by defects in the low density lipoprotein receptor (LDLR) gene. Mutations in the LDLR gene affect the binding of LDLR to low-density lipoprotein cholesterol (LDL-C), resulting in an inability to metabolize LDL-C, resulting in an abnormally elevated plasma cholesterol concentration and excessive accumulation within the tissue [1]. The incidence of homozygotes is one millionth, the incidence of heterozygotes is