title: [Primary hyperchylomicronemia and gene defects].
abstract: Primary Hyperchylomicronemia is known as a syndrome in which the accumulation of chylomicron occurs in the circulation. The main clinical symptoms of this disorder are the huge increase in plasma trigriceride and cholesterol, and the presence of xanthomatous eruption, lipemia retinalis, hepatosplenomegaly, and the complication of acute pancreatitis. With gene analysis, a deficiency of lipopreteinlipase (LPL) or apolipoprotein C-II is revealed as a main cause of primary chylomicronemia. Furthermore, in some cases, abnormalities of remnant receptors, the presence of antibody against LDL, apolipoprotein C-II, and LDL receptor are reported as causes of chylomicronemia syndrome. In the present paper, we summarized the major gene polymorphism and characteristics of clinical symptom of these disease.
authors.affiliation: Jikei Medical University, Internal Medicine 4(Aoto).
authors.forename: M
authors.initials: M
authors.lastname: Iwasaki
authors.forename: N
authors.initials: N
authors.lastname: Tada
mesh_terms: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000235:genetics; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D008071:Lipoprotein Lipase