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Disorders of lipoprotein metabolism are related to abnor-malities in the synthesis and degradation of plasma lipopro-teins. These abnormalities may result from primary inborn er-rors of metabolism or may be secondary to a variety of other disease states. Hyperlipidemia, the elevation of plasma choles-terol and/or triglyceride concentrations, is the hallmark of the lipoprotein disorders. Clinical delineation of these disorders is important because of the association of some with premature coronary artery disease and others with recurrent pancreatitis.
The classification of disorders of lipoprotein metabolism was first based on the varieties of xanthomas that occur and the appearance of plasma turbidity caused by the accumulation of large, light-scattering lipoprotein particles in plasma. With the discovery of relatively discrete lipoprotein species, classifi-cation of these disorders was based on separation of lipoproteins by ultracentrifugation or by electrophoresis. Understanding of lipoprotein physiology has allowed classification of lipoprotein disorders according to pathophysiologic defects, with specific discrete apoprotein, enzyme, or receptor abnormalities identi-fied in some disorders.