Rapid Communication Clinical and Biochemical Characteristics of Familial Hyperalphalipoproteinemia Associated with Complete Deficiency of Cholesteryl Ester Transfer Activity*

Introduction Many epidemiological studies have demonstrated that elevated levels of high density lipoprotein (HDL)-cholesterol are negatively correlated with the incidence of coronary heart disease1-3), suggesting a role of HDL in preventing the development of atherosclerotic lesions4). Familial hyperalphalipoproteinemia has been considered to be a genetic disorder characterized by elevated levels of serum HDL-cholesterol5). We found two families of familial hyperalphalipoproteinemia with corneal opacification and coronary heart disease6,7). These probands showed very low activity of hepatic triglyceride lipase and abnormal cholesteryl ester net transfer. In addition, we reported three probands with familial hyperalphalipoproteinemia due to complete deficiency of cholesteryl ester transfer activity (CETA)8). These data suggest that familial hyperalphalipoproteinemia may include several disease entities which are different in their pathogenesis. Recently, we also found two other unrelated