title: Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1.
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.
  
  
  BACKGROUND
  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.
authors.affiliation: Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: zahid.ahmad@utsouthwestern.edu.
authors.forename: Zahid
authors.initials: Z
authors.lastname: Ahmad
authors.affiliation: Department of Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX, USA.
authors.forename: Don P
authors.initials: DP
authors.lastname: Wilson
mesh_terms: D000208:Acute Disease; D004252:DNA Mutational Analysis; D018572:Disease-Free Survival; D005247:Feeding Behavior; D005260:Female; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D007223:Infant; D041943:Infant Formula / Q000008:administration & dosage*; D008487:Medical History Taking; D009154:Mutation / Q000235:genetics*; D010195:Pancreatitis / Q000178:diet therapy / Q000209:etiology / Q000235:genetics*; D018110:Receptors, Lipoprotein / Q000235:genetics*; D014280:Triglycerides / Q000008:administration & dosage*
chemical_list: C523701:GPIHBP1 protein, human; D018110:Receptors, Lipoprotein; D014280:Triglycerides
keywords: Eruptive xanthomas; Familial chylomicronemia syndrome; GPIHBP1; Hypertriglyceridemia; Lipemia; Lipoprotein lipase (LPL); Medium chain triglycerides; Triglycerides; Type 1 hyperlipoproteinemia