GENETIC LIPID DISORDERS IN CARDIOVASCULAR-DISEASE

Familial lipoprotein disorders are seen in approximately half of the patients with premature coronary artery disease. The molecular basis for most of these disorders is poorly understood. Several (usually) rare genetic disorders affecting the genes for apolipoproteins AI-CIII-AIV, (a), B and E; lipoprotein receptors such as the low-density lipoprotein receptor or lipoprotein-processing enzymes (lecithin-cholesterol-acyltransferase) are associated with coronary artery disease. The characterization of these unusual extreme lipoprotein defects enables a better understanding of normal lipoprotein physiology and the role of lipoproteins and apolipoproteins in the pathophysiology of arteriosclerosis.