Familial hypercholesterolemia (FH) refers to dyslipidemia caused by genetic abnormalities and is a major risk factor for premature coronary heart disease. There are many kinds of gene defects leading to FH, including LDLR, APOB, PCSK9 and other genes. These gene defects cause hypercholesterolemia 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.

Familial hypercholesterolemia; Molecular genetics; Clinical interventions