A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome

J Clin Lipidol. 2018 Mar-Apr;12(2):506-510. doi: 10.1016/j.jacl.2018.01.011. Epub 2018 Jan 31.

Abstract

Familial chylomicronemia syndrome is characterized by severe elevation in serum triglycerides and an increased risk of acute pancreatitis. Although familial chylomicronemia syndrome is mainly caused by mutations in the lipoprotein lipase (LPL) gene, few causal mutations in other genes (ie, APOC2, APOA5, LMF1, and GPIHBP1) have also been reported. In this case report, we present the discovery of a novel mutation in the glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) gene and discuss its pathogenicity through a familial segregation study.

Keywords: Familial chylomicronemia syndrome; GPIHBP1; Pancreatitis; Pregnancy; Triglycerides.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Family Health
  • Female
  • Humans
  • Hyperlipoproteinemia Type I / blood
  • Hyperlipoproteinemia Type I / diagnosis
  • Hyperlipoproteinemia Type I / genetics*
  • Lipids / blood
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Receptors, Lipoprotein / genetics*
  • Young Adult

Substances

  • GPIHBP1 protein, human
  • Lipids
  • Receptors, Lipoprotein

Supplementary concepts

  • Familial hyperchylomicronemia syndrome

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