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Primary dyslipidemias as risk factor for coronary heart disease

Abstract:

Cardiovascular disease is the leading cause of death around the World. The Framingham's study was the first trial to associate that some conditions are related with a progressive increase in cardiovascular events incidence, showing that genetic dyslipidemias are an important determinant in atherosclerosis development. Primary dyslipidemias involved genetic defects in any of lipoprotein components and enzymes involved in their synthesis, transport and metabolism, causing alterations like hypertriglyceridemia, hypercholesterolemia or α-hypolipoproteinemia. Primary hypercholesterolemia is caused by a number of family disorders that cause elevated levels of LDL-cholesterol like defects in LDL receptor or ApoB-100. Primary Hypertriglyceridemia is due to overproduction of VLDL- cholesterol and hyperapobetalipoproteinemia or apo E, lipoprotein lipase, apo CII, or apo CIII mutations. Mixed Hyperlipidemia is represented by Familiar dysbetalipoproteinemia as a result of Apo E defect. α-Hypolipoproteinemias are characterized by low HDL- cholesterol levels as the result of Apo A-1 mutation or lecitin-cholesterol aciltrasferase deficit. Finally, others α-Hypolipoproteinemias like hypolipoproteinemia and abetalipoprotenemia are characterized by low levels of LDL-c or absent of Apo B.