[Chylomicronemia syndrome]

The chylomicronemia syndrome is a disorder characterized by severe hypertriglyceridemia and massive accumulation of chylomicrons in plasma. This hypertriglyceridemia can lead to the development of eruptive xanthomas, lipemia retinalis, and is clinically important when plasma triglyceride levels predispose to pancreatitis (above 2000 mg/dl). Three genetic disorders have been described in which chylomicrons accumulate in plasma: familial lipoprotein lipase deficiency, familial apolipoprotein C-II deficiency, and familial inhibitor to lipoprotein lipase. In addition, chylomicronemia is seen in other states with the simultaneous occurrence of familial forms of moderate hypertriglyceridemia and other acquired causes for hypertriglyceridemia such as diabetes mellitus, certain drug therapies and alcohol use. Treatment should be directed at both the familial and the acquired disorder. This review discusses the chylomicronemia syndrome presenting the pathophysiologic characteristics of triglyceride and chylomicrons metabolism, diagnosis, prevalence and treatment.