Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia

Metabolism. 1981 Sep;30(9):919-26. doi: 10.1016/0026-0495(81)90072-x.

Abstract

The underlying pathophysiological defect was studied in four siblings with familial hyperchylomicronemia. Deficiency of apolipoprotein C-II and E-3 was identified. In addition, these subjects had markedly decreased LPL activity in postheparin plasma. Addition of normal plasma to the assay as source for apoC-II enhanced LPL activity only to a limited extent. In contrast with previously reported patients with apoC-II deficiency, a far less pronounced effect of intravenous infusion of normal plasma was seen in one of the siblings, probably due to the combined deficiency of apoC-II and LPL. Plasma VLDL-TG turnover rate was not decreased in one of the siblings with apoC-II and LPL deficiency, suggesting different metabolic pathways for chylomicrons and VLDL. Family study confirmed an autosomal recessive mode of inheritance both for apoC-II and for apoE-3 deficiency. The mode of inheritance for LPL deficiency could not be established exactly.

MeSH terms

  • Adult
  • Apolipoprotein C-II
  • Apolipoproteins / blood
  • Apolipoproteins / deficiency*
  • Apolipoproteins C*
  • Fasting
  • Female
  • Humans
  • Hyperlipoproteinemia Type I / blood*
  • Hyperlipoproteinemia Type I / enzymology
  • Hyperlipoproteinemia Type I / genetics
  • Hyperlipoproteinemias / blood*
  • Lipase / blood
  • Lipoprotein Lipase / blood
  • Lipoprotein Lipase / deficiency*
  • Lipoproteins / blood
  • Liver / enzymology
  • Male
  • Pedigree
  • Triglycerides / blood

Substances

  • Apolipoprotein C-II
  • Apolipoproteins
  • Apolipoproteins C
  • Lipoproteins
  • Triglycerides
  • Lipase
  • Lipoprotein Lipase