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本文报道了我国首例家族性脂蛋白脂酶缺乏症。患者有反复发作的急性胰腺炎病史。空腹血清呈乳糜状，为典型的Ｉ型高脂蛋白血症表型。肝素化后血浆脂蛋白脂酶活性低于正常的１／１０。载脂蛋白Ｃ─Ⅱ含量增高。肝酯酶活性正常，服用多种降脂药物无效。外源性肝素化后血浆输入短时间内降低血清甘油三酯浓度。
This article reports the first case of familial lipoprotein lipase deficiency in our country. Patients have a history of recurrent acute pancreatitis. Fasting serum was chylous, a typical type I hyperlipoproteinemia phenotype. After heparin plasma lipoprotein lipase activity was lower than normal 1/10. Apolipoprotein C ─ Ⅱ content increased. Liver esterase activity is normal, taking a variety of lipid-lowering drugs ineffective. Exogenous heparinized plasma reduces short-term serum triglyceride concentrations.