Familial hypercholesterolemia: Development of a research and diagnostic approach to the disease

Background: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to life-long elevated plasma LDL cholesterol levels. FH is caused by mutations in LDLR, APOB and PCSK9 genes found in 80%, 5%, and 1%, respectively, of FH subjects. However, many subjects with primary hypercholesterolemia did not demonstrate functional mutations in any of these genes. In a substantial proportion of FH patients without a known mutation, their high LDL-C concentrations might have a polygenic cause.

Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - December 31, 2016 Category: Nutrition Authors: A. Volta, E. Sticchi, A.M. Gori, E. Grifoni, R. Marcucci, B. Giusti Source Type: research