Review paper
Genetics of the primary dyslipidemias

Atherosclerosis and ischemic heart disease in particular are cause of many risk factors and pathogenetic mechanisms, which may coexist and act in an additive manner. In this area very important and clinically promissive are the studies explaining the genetic, biomolecular abnormalities inducing the risk for these diseases. These studies contribute to more direct insight in the etiology of atherosclerosis, ischemic heart disease and myocardial infarction. Already, in several circumstances they could contribute to better assesment of the risk of atherosclerosis in many families with dyslipidemias in the period before the stenotic changes of the coronary arteries. It means they may give the chance for new methods of prevention. For this purposes it is useful to delineate the specific markers of the abnormal gene action or to determine the DNA structure directly. It is possible to approach in this way the primary, familiar hypercholesterolemia, E4/E3 genotype, familial decrease in HDL cholesterol, mutations of apolipoprotein CETP and other genes. The clinical application of these methods to the dyslipidemias suspected of being genetic in character is already feasible.