Familial hypercholesterolemia (FH) is the most common monogenic disorder of lipid metabolism. The total cholesterol levels begin to rise during fetal stage, which leads to premature coronary heart disease. The diagnosis of FH is based on the serum concentration of low density lipoprotein cholesterol (LDLC), xanthomas, premature coronary heart disease and genetic test. While early detection and intervention are all crucial to the prognosis, the diagnosis rate and LDLC control rates after lipid-lowering drug treatment are extremely low in China.