[A case of hyper-HDL-cholesterolemia presenting peculiar lipoprotein patterns in agarose gel electrophoresis].

Lipoprotein metabolism was analyzed in a patient with marked hyper-HDL-cholesterolemia. A 50 year old male with no symptom of ischemic heart disease or xanthoma had a serum cholesterol level between 293 and 410 mg/dl, and a markedly elevated, HDL-cholesterol level (160-190 mg/dl). The cholesterol content of ultracentrifugally separated HDL2 was exclusively increased, while it was normal in the HDL3 fraction. Analytical ultracentrifugation and HPLC revealed that HDL particles became remarkably larger than the control and, on the contrary, LDL particles became smaller. LPL and LCAT activities were higher in this case, but H-TGL activity was normal. Agarose gel electrophoresis of lipoproteins showed an abnormal broad band which was located between alpha and pre beta band. Serum levels of apolipoprotein A-I, A-II, C-II, C-III and E were higher, while apolipoprotein B level was slightly lower than the control. Cholesteryl ester transfer protein (CETP) activity was demonstrated to be completely deficient in this case, as determined in 10 microliters serum using [3H] CE-labeled HDL3 as donor and VLDL + LDL fraction as acceptor. Since CETP was considered to catalyze the cholesteryl ester transport from HDL to VLDL and LDL, the deficiency of this activity might be the cause of the marked hyper-HDL-cholesterolemia in this patient.