Etiology of Extreme Hypertriglyceridemia in Children: Data from a Tertiary Children’s Hospital Nivedita Patni MD1, Abhimanyu Garg MD2. 1Division of Pediatric Endocrinology, 2Division of Nutrition and Metabolic Diseases UT Southwestern Medical Center, Dallas, TX, USA. Nothing to disclose: NP, AG

Introduction Very severe or extreme hypertriglyceridemia (HTG) is defined as TG value above 2000 mg/dL, and poses a significant risk for acute pancreatitis. Berglund L, et al. J Clin Endocrinol Metab 2012; 97:2969-2989

Introduction 2. Brunzell JD, et al. Med Clin North Am. 1982;66(2):455-468.

Introduction There is paucity of data regarding the prevalence and etiology of extreme HTG in children. Therefore, we determined demographics, clinical features and etiologies of patients with extreme HTG at a tertiary children’s hospital.

Methods A retrospective cross sectional chart review of electronic medical records for 15 years Inclusion criteria: All patients with laboratory analysis done at a tertiary children’s hospital with any serum TG value ≥ 2000 mg/dL Duration: January 2000 till December 2015.

Results

Results Racial distribution

Results Male Female n 14 22 Median Age of presentation in years (range) 15.5 (0.2-18) 12.8 (0.02-19.5) Median body mass index (kg/m2) 25 19.4 Pancreatitis (%) 3 (21%) 9 (40%)

Results

Results Mutations in patients with type 1 hyperlipoproteinemia: Homozygous mutation in LPL (c.662T>A; p.Ile221Asn) Compound heterozygous mutations in LPL (c.721C>T; p.P241S; and c.IVS112insT)1 Homozygous 17499 bp del that included GPIHBP1 gene2 17.9 year old AA female had with clinical features of familial partial lipodystrophy. Genotyping for candidate genes pending. Chokshi N, et al. J Clin Lipidol 2014;8(3):287-295 Rios JJ, et al. J Inherit Metab Dis. 2012;35(3):531-540

Results Medications: All patients with acute lymphoid leukemia (ALL) had received L-asparaginase and high dose steroid therapy 4 out of 5 patients with solid organ transplant were on sirolimus or tacrolimus Patient with neonatal HIV was on antiretroviral therapy including protease inhibitor One patient was receiving propofol for sedation while mechanically ventilated for acute respiratory distress syndrome of unknown etiology. No patient was receiving estrogen or retinoid therapy.

Results Mortality during the study: 4 with ALL, 1 with AML, 1 with ESRD 1 post heart transplant. Only the patient with end stage renal disease had acute pancreatitis at the time of death.

Conclusion Extreme HTG is rare in pediatric patients. Of the total of 30,626 patients who had serum TG measured during this period of 15 years, 36 had extreme HTG; thus estimated prevalence is ~1:1,000. Uncontrolled diabetes mellitus, L-asparaginase therapy for ALL and genetic disorders are the most common underlying etiologies of extreme HTG in children. In contrast to adults with extreme HTG, ethanol use, estrogen therapy and obesity do not contribute to extreme HTG in children.

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