抄録
A case of familial lipoprotein lipase (LPL) deficiency is reported. The patient was a 34 year-old man of Japanese, whose parents were first cousins. In 1977 at his age of 29, he was diagnosed as primary idiopathic hypogonadism and hyperlipemia. Plasma concentration of triglyceride (TG) was 2000mg/dl, in spite of the medication of clofibrate and clinofibrate. In 1982 he was admitted because of severe epigastralgia after excessive drinking and eating. On physical examination there was neither skin xanthomas, hepatosplenomegaly, nor lipemia retinalis. The serum taken after an overnight fast was turbid. On standing overnight at 4 C, a creamy layer of chylomicrons appeared on the top. The serum TG concentration varied from 577 to 3704mg/dl, according to dietary fat intake. The serum cholesterol level was moderately elevated, the range being from 132 to 436mg/dl. Lipoprotein electrophoresis and ultracentrifugation showed the presence of excessive ammounts of chylomicrons in the fasting serum. The concentration of the VLDL was also elevated, but LDL and HDL levels were depressed. Postheparin plasma LPL activity was 0.8μmoles FFA/ml/hour (Normal control; 6.4±2.1). The level was less than 20% of normal controls, so it was diagnostic for LPL deficiency. The LPL activity of his elder sister at the age of 38 was alsolow, being 1.2μmoles FFA/ml/hour (Serum TG; 675mg/dl). The LPL activity of his abdominal addipose tissue was 0.20μmoles FFA/hr/gm wet tissue. It was lower than the level of normolipemic controls of similar age and sex. Immunochemical measurement of apoproteins showed that the levels of apoproteins C-II, B and E were elevated. But the levels of apo A-I and A-II decreased. Restriction of dietary fat to 10 gm or less has been useful to reduce serum TG levels and keep him free of symptoms. Available lipidl-owering drugs were not effective.
