title: [Primary hyperchylomicronemia].
abstract: 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.
authors.affiliation: Department of Community Medicine, Osaka University Graduate School of Medicine.
authors.forename: Shizuya
authors.initials: S
authors.lastname: Yamashita
mesh_terms: D053304:Apolipoprotein C-II / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D001323:Autoantibodies / Q000097:blood / Q000235:genetics; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics / Q000628:therapy; D006953:Hyperlipoproteinemia Type IV / Q000235:genetics / Q000628:therapy; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000378:metabolism; D009154:Mutation / Q000235:genetics
chemical_list: D053304:Apolipoprotein C-II; D001323:Autoantibodies; D008071:Lipoprotein Lipase