ホモ接合型家族性高αリポ蛋白血症の1家系

Abstract

Lipoprotein patterns and cholesteryl-ester transfer activity (CETA) were examined in the patient with familial hyperalphalipoproteinemia (FHALP). The proband was a 41-year-old Japanese male who was working as a plumber. He was found to have hypercholesterolemia, with serum total cholesterol level of 9.93mmol/l (382mg/dl) and HDL-cholesterol level of 4.60mmol/l (177mg/dl). HDL showed a high cholesterol/apo A-I ratio and appeared to have a larger-sized particle than normal HDL on agarose gel column chromatography. His father, two of the proband's siblings and one of the children showed higher HDL-cholesterol levels (91, 100, 75, 98mg/dl, respectively). Neither had cutaneous and tendinous xanthomas nor any clinical signs of atherosclerosis. Apo A-I isoforms of the proband was not different from that of controls.Cholesteryl-ester transfer activity was studied by Dr. Albers et al. The proband appears to have only one-tenth the normal level of cholesteryl-ester transfer. However, the levels of lipid-transfer protein-I (LTP-I) activity were near normal. Thus this patient most likely has an exaggerated level of LTP-I inhibitor (s). The above mentioned data in the patient with FHALP presumably accounted for the increase in particle size and cholesterol enrichment of HDL.