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Primary hyperchylomicronemia

Yamashita, S.

Nihon Rinsho. Japanese Journal of Clinical Medicine 71(9): 1578-1583

2013

ISSN/ISBN: 0047-1852
PMID: 24205717
Document Number: 668305
Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to an increase in chylomicrons, which may cause acute pancreatitis and eruptive xanthomas. This entity includes familial lipoprotein lipase (LPL) deficiency, familial apolipoprotein C-II deficiency, primary type V hyperlipoproteinemia, and idiopathic hyperchylomicronemia. Idiopathic hyperchylomicronemia is caused by an LPL inhibitor or autoantibody against LPL. More recently, patients with primary hyperchylomicronemia caused by mutations in the gene for glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1(GPIHBP1) or lipase maturation factor 1(LMF1). For the treatment of primary hyperchylomicronemia, a strict restriction of dietary fat is essential to avoid acute pancreatitis.

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