ABSTRACT
Familial hypercholesterolemia (FH) is a genetic lipid metabolic disorder. Common pathogenic genes of FH include low-density lipoprotein (LDL) receptor gene, apolipoprotein B (ApoB) 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, ApoB synthesis inhibitor, et al.