Chylomicronemia syndrome

Alternative names:

hyperchylomicronemia; hypertriglyceridemia, sporadic

Definition:

A group of symptoms and signs associated with abnormal lipid metabolism; including an enlarged liver and spleen, inflammation of the pancreas, fatty deposits under the skin, and deposits in the retina of the eye.

Causes, incidence, and risk factors:

Chylomicronemia syndrome is usually associated with lipid disorders such as lipoprotein lipase deficiency or hypertriglyceridemia. It may also occur in the presence of other risk factors of hyperlipidemia such as increased fat intake, diabetes, excessive alcohol use, use of estrogens, steroids, beta-blockers, and other medications, and obesity in people at risk. It is associated with the following diseases: diabetes mellitus, hypothyroidism, Cushing's syndrome, severe azotemia, and nephrotic syndrome. A layer of chylomicrons is present when blood is centrifuged and the triglyceride level is extremely elevated. Risk factors are a history of familial lipoprotein lipase deficiency, familial dysbetalipoproteinemia, familial combined hyperlipidemia, dietary factors, and associated diseases. The incidence is 5 out of 10,000 people.