Berger G M
Am J Clin Pathol. 1987 Sep;88(3):369-73. doi: 10.1093/ajcp/88.3.369.
The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.
作者报告了一例患有不完全型家族性脂蛋白脂肪酶缺乏症的患者，该疾病与I型高脂蛋白血症相关，呈常染色体隐性遗传模式。患者表现为肝脾肿大、腹痛和空腹乳糜微粒血症。西方饮食导致血浆甘油三酯浓度急剧升高，且空腹血浆中出现漂浮的乳糜微粒，下层清亮。肝素后脂蛋白脂肪酶活性中度降低至对照值的38%。脂肪组织脂蛋白脂肪酶活性为正常的10%，而其肌肉酶活性在参考范围内。血浆载脂蛋白的二维电泳显示存在正常激活剂（载脂蛋白C-II）。这些结果证实了脂肪组织酶在清除饮食来源的血浆甘油三酯中的重要性。
