Familial hypercholesterolemia(FH) is an autosomal dominant inherited disease caused by a mutation in the low density lipoprotein (LDL) receptor gene that reduces the catabolism of plasma LDL cholesterol(LDL-C).Because exposure to high level of LDL-C from birth, patients significantly increasesed risk of premature coronary heart disease.Therefore,early diagnosis and early treatment of FH can reduces risk of premature coronary heart diseased and normalize life expectancy. LDL-C is a major intervention targets of lipid-lowering therapy, a series of clinical studies confirmed that the effectiveness of statins lower plasma LDL-C concentrations in the past 20 years. Statins are first choice therapy for reducing LDL-C levels in patients with FH. Emerging drugs PCSK9 inhibitors and anacetrapib will provide more choices for statin-intolerant patients. Lomitapide and mipomersen are effective in the treatment of homozygous FH because their efficacy independence on the upregulation of functional LDL receptors in the liver. |