Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1

Zahid Ahmad, Don P. Wilson

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

BACKGROUND: Severe hypertriglyceridemia predisposes to attacks of acute pancreatitis, a serious condition complicated by multiorgan failure, pancreatic necrosis, and mortality rates up to 20% in adults and 6.5% in children.

OVERVIEW: We describe an infant who suffered from an episode of acute pancreatitis from severe hypertriglyceridemia. Two major challenges complicate the case: identifying the etiology of severe hypertriglyceridemia and finding an efficacious treatment. A thorough history, physical examination, and laboratory workup failed to identify a clear etiology, prompting a genetic workup that identified compound heterozygous mutations in the glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) gene. This patient's hypertriglyceridemia responded to an infant formula rich in medium chain triglycerides (MCTs), and she remained free of pancreatitis 6 months later.

CONCLUSIONS: This case highlights the need to pursue a genetic evaluation in the absence of secondary causes of severe hypertriglyceridemia in infants. Patients with mutations in GPIHBP1 fail to respond to currently available lipid-lowering agents so dietary management-specifically, an extremely low-fat diet and supplementation with MCT-remains the cornerstone of therapy. Treatment in infants should focus on dietary measures rather than pharmacologic agents.

Original languageEnglish (US)
Pages (from-to)635-639
Number of pages5
JournalJournal of Clinical Lipidology
Volume8
Issue number6
DOIs
StatePublished - Nov 1 2014

Keywords

  • Eruptive xanthomas
  • Familial chylomicronemia syndrome
  • GPIHBP1
  • Hypertriglyceridemia
  • Lipemia
  • Lipoprotein lipase (LPL)
  • Medium chain triglycerides
  • Triglycerides
  • Type 1 hyperlipoproteinemia

ASJC Scopus subject areas

  • Medicine(all)

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