Santamarina-Fojo S
Section of Molecular Biology, Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
Endocrinol Metab Clin North Am. 1998 Sep;27(3):551-67, viii. doi: 10.1016/s0889-8529(05)70025-6.
The chylomicronemia syndrome is a disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Genetic causes of the syndrome are rare and include deficiency of lipoprotein lipase (LPL), apolipoprotein C-II, and familial inhibitor of LPL. Patients with familial forms of hypertriglyceridemia in combination with secondary acquired disorders account for most individuals presenting with chylomicronemia. The clinical manifestations--lipid and other biochemical abnormalities--as well as treatment options for chylomicronemic patients are discussed.
乳糜微粒血症综合征是一种以严重高甘油三酯血症和空腹乳糜微粒血症为特征的疾病。该综合征的遗传病因罕见，包括脂蛋白脂肪酶（LPL）缺乏、载脂蛋白C-II缺乏以及LPL家族性抑制剂。伴有继发性后天性疾病的家族性高甘油三酯血症患者占大多数出现乳糜微粒血症的个体。本文讨论了乳糜微粒血症患者的临床表现——脂质及其他生化异常——以及治疗选择。
