摘要家族性高胆固醇血症( familial hypercholesterolemia , FH )是指由于遗传基因异常导致的血脂代谢紊乱,是早发冠心病的主要危险因素.导致 FH 的基因缺陷有多种,包括LDLR 、 APOB 、 PCSK9 等多种基因,这些基因缺陷通过影响机体低密度脂蛋白( low density lipo-protein , LDL )清除来导致高胆固醇血症,促进 LDL 颗粒在动脉内皮损伤处沉积,最终导致动脉粥样硬化性血管病变.目前已知的大部分 FH 病例呈常染色体显性遗传,但也有一部分表现为常染色体隐性遗传模式.传统调脂药物对 FH 疗效不佳,近年来,针对 APOB 基因缺陷等特异 FH 家系的治疗取得了一些进展,本文将从分子遗传学角度,对 FH 的致病基因缺陷及其干预研究进展作一综述.

abstractsFamilial hypercholesterolemia ( FH ) refers to dyslipidemia caused by genetic abnor-malities and is a major risk factor for premature coronary heart disease . There are many kinds of gene de-fects leading to FH , including LDLR , APOB , PCSK9 and other genes . These gene defects cause hyper-cholesterolemia by affecting body’s LDL clearance , promote the deposition of LDL particles in the arterial endothelial injury , and eventually lead to atherosclerosis sclerotic vascular disease . Most of the FH cases currently known are autosomal dominant inheritance , but some are also autosomal recessive inheritance . Traditional lipid-lowering drugs are not effective against FH . In recent years , some progress has been made in the treatment of specific FH families such as APOB gene defects . This review will summarize the progress in the studies on FH pathogenic gene defects and its intervention from the perspective of molecular genetics .