familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant hereditary disease. The pathogenesis of this disease is the absence or abnormality of LDL receptor on the surface of cell membrane, which leads to abnormal LDL metabolism in vivo, resulting in the increase of plasma total cholesterol (TC) level and low density lipoprotein-cholesterol (LDL-C) level.