Familial chylomicronemia syndrome

Pediatr Dermatol. 2007 May-Jun;24(3):323-5. doi: 10.1111/j.1525-1470.2007.00415.x.

Abstract

Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicron levels. We report two siblings with this rare disorder and review the literature.

Publication types

  • Case Reports

MeSH terms

  • Apolipoproteins C / deficiency
  • Child
  • Child, Preschool
  • Chylomicrons / blood*
  • Consanguinity
  • Female
  • Hepatomegaly / genetics
  • Humans
  • Hyperlipoproteinemia Type I / diagnosis*
  • Infant
  • Lipoprotein Lipase / deficiency
  • Male
  • Siblings
  • Xanthomatosis / genetics*

Substances

  • Apolipoproteins C
  • Chylomicrons
  • Lipoprotein Lipase