Bijvoet S M, Bruin T, Kastelein J J
Centre for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, Amsterdam, Netherlands.
Neth J Med. 1993 Feb;42(1-2):36-44.
The familial hyperchylomicronaemia syndrome is a hereditary disorder of lipoprotein metabolism caused by lipoprotein lipase (LPL) deficiency, apolipoprotein(apo) CII deficiency or LPL inhibition. This syndrome, which is characterized by hyperchylomicronaemia, attacks of epigastric pain, recurrent pancreatitis and the presence of eruptive xanthomas, may ultimately lead to necrotizing pancreatitis or pancreatic insufficiency. Treatment consists of lifelong adherence to a low-fat diet to prevent hyperchylomicronaemia and its sequelae. We describe here the clinical course of a patient with acute pancreatitis due to hyperchylomicronaemia based on hereditary LPL deficiency. The different causes of the familial hyperchylomicronaemia syndrome and its therapy will be discussed and an update is presented of our knowledge concerning the basic molecular defects of this hereditary disorder.
家族性高乳糜微粒血症综合征是一种脂蛋白代谢的遗传性疾病，由脂蛋白脂肪酶（LPL）缺乏、载脂蛋白（apo）CII缺乏或LPL抑制引起。该综合征以高乳糜微粒血症、上腹部疼痛发作、复发性胰腺炎和发疹性黄瘤为特征，最终可能导致坏死性胰腺炎或胰腺功能不全。治疗包括终身坚持低脂饮食以预防高乳糜微粒血症及其后遗症。我们在此描述了一名因遗传性LPL缺乏导致高乳糜微粒血症而患急性胰腺炎患者的临床病程。将讨论家族性高乳糜微粒血症综合征的不同病因及其治疗方法，并介绍我们关于这种遗传性疾病基本分子缺陷的知识更新情况。
