Etiology of Extreme Hypertriglyceridemia in Children: Data from a Tertiary Children’s Hospital

Presentation Number: SAT 508
Date of Presentation: April 1st, 2017

Nivedita Patni*1 and Abhimanyu Garg2
1UT Southwestern Medical Center, Dallas, TX, 2University of Texas Southwestern Medical Center, Dallas, TX


Abstract: Very severe or extreme hypertriglyceridemia (HTG; serum TG ≥ 2000 mg/dL)(1), poses a significant risk for acute pancreatitis. 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 with 418-beds and >28,000 admissions and >173,000 emergency room visits per year. A retrospective cross sectional chart review of electronic medical records was performed for all patients admitted with any serum TG value ≥ 2000 mg/dL from January 2000 till December 2015. Forty-two patients had extreme HTG, of which 6 patients had a single anomalous laboratory value while on parenteral nutrition; these patients were excluded from further analysis. Of the remaining 36 patients (14 males and 22 females), 58% of the patients were Caucasians, 17% African-Americans, 11% Asians and 8% Hispanics. Median age of presentation in males was 15.5 years compared to 12.8 years in females. Median body mass index was 25 kg/m2 in males and 19.4 kg/m2 in females. Nine females and 3 males had also had acute pancreatitis. Five patients (14%) had type 1 hyperlipoproteinemia (2 with lipoprotein lipase deficiency, one with GPIHBP1 deficiency, and the other two so far have not had comprehensive genetic testing). Others had secondary causes including type 2 diabetes mellitus in 7 (19%), type 1 diabetes mellitus in 4 (11%), and hypothyroidism in 3 (8%) patients. Interestingly, 10 (28%) patients had acute lymphoid leukemia (ALL) and had received L-asparaginase and high dose steroids therapy. Five (14%) patients were post solid organ transplant, and 4 of them were on sirolimus or tacrolimus. End stage renal disease (ESRD), acute myeloid leukemia (AML), neonatal HIV on antiretroviral therapy including protease inhibitor, and propofol therapy was observed in one patient each. Interestingly, no patient was receiving estrogen or retinoid therapy. Seven patients died during the study period, four with ALL, one with AML, one with ESRD and one post heart transplant; and only the patient with ESRD had acute pancreatitis at the time of death. Conclusions: Extreme HTG is rare in pediatric population. 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.


Disclosure: AG: Consultant, Aegerion Pharmaceuticals, Inc., Study Investigator, Aegerion, Principal Investigator, Pfizer, Inc., Consultant, Ionis Pharmaceuticals, Inc., Principal Investigator, Ionis Pharmaceuticals, Inc., Principal Investigator, Intercept Pharmaceuticals, Inc., Principal Investigator, Kadmon Pharmaceuticals, Inc., Consultant, Akcea Pharmaceuticals, Inc.. Nothing to Disclose: NP