[Molecular genetic causes of familial hypercholesterolemia]

Abstract

Familial hypercholesterolemia (FH) is characterized by autosomal dominantly inherited hypercholesterolemia, xanthomas and premature coronary heart disease. The disease is caused by defective cell surface low density lipoprotein (LDL) receptors. This paper reviews the molecular defects underlying defective LDL receptors. Studies of the molecular genetics of FH have provided important information on the structure-function relationship of the LDL receptor. This information may explain the considerable variation in levels of serum cholesterol among FH subjects, and why FH subjects respond differently to lipid lowering drugs. The diagnostic and therapeutic implications of the molecular findings are discussed.