University of Washington, Seattle, Washington (A.C.).
University of Colorado Anschutz Medical Campus, Aurora, Colorado (R.H.E.).
Ann Intern Med. 2019 May 7;170(9):626-634. doi: 10.7326/M19-0203. Epub 2019 Apr 30.
The chylomicronemia syndrome occurs when triglyceride levels are severely elevated (usually >16.95 mmol/L [1500 mg/dL]) and is characterized by such clinical features as abdominal pain, acute pancreatitis, eruptive xanthomas, and lipemia retinalis. It may result from 1 of 3 conditions: the presence of secondary forms of hypertriglyceridemia concurrent with genetic causes of hypertriglyceridemia, termed multifactorial chylomicronemia syndrome (MFCS); a deficiency in the enzyme lipoprotein lipase and some associated proteins, termed familial chylomicronemia syndrome (FCS); or familial partial lipodystrophy. Most chylomicronemia syndrome cases are the result of MFCS; FCS is very rare. In all these conditions, triglyceride-rich lipoproteins accumulate because of impaired plasma clearance. This review describes the 3 major causes of the chylomicronemia syndrome; their consequences; and the approaches to treatment, which differ considerably by group.
乳糜微粒血症综合征发生于甘油三酯水平严重升高时（通常 >16.95mmol/L [1500mg/dL]），其特征性临床表现为腹痛、急性胰腺炎、发疹性黄色瘤和脂血症视网膜病变。该病可由以下 3 种情况引起：继发于遗传因素的高甘油三酯血症时存在高甘油三酯血症的继发形式，称为多因素乳糜微粒血症综合征（MFCS）；脂蛋白脂肪酶和一些相关蛋白缺乏，称为家族性乳糜微粒血症综合征（FCS）；或家族性部分脂肪营养不良。大多数乳糜微粒血症综合征病例是 MFCS 的结果；FCS 非常罕见。在所有这些情况下，由于血浆清除受损，富含甘油三酯的脂蛋白会积聚。这篇综述描述了乳糜微粒血症综合征的 3 种主要病因；它们的后果；以及治疗方法，这些方法因组别而异，差异很大。
