The prevalence and etiology of extreme hypertriglyceridemia in children: Data from a tertiary children's hospital

Background: Extreme hypertriglyceridemia (eHTG; serum triglycerides ≥ 2000 mg/dL) poses a significant risk for acute pancreatitis. There is paucity of data regarding the prevalence and etiology of eHTG in children. Objective: To determine the prevalence, clinical features and etiologies of patients with eHTG at a tertiary children's hospital in the United States and in the United States National Health and Nutrition Examination Survey (NHANES). Methods: A retrospective analysis was conducted of the electronic medical records of the Children's Medical Center, Dallas, from 2000-2015, and the NHANES data from 2005-2014 for eHTG. Results: Of 30,623 children, 36 (~1 in 1000) had eHTG and one-third of them developed acute pancreatitis. They tended to be female (61%), Hispanic (39%), and nonobese (median body mass index z-score 1.60 and 1.25 in males and females, respectively). Most patients had secondary causes such as uncontrolled diabetes mellitus (30%), L-asparaginase and high-dose corticosteroid therapy for acute lymphoblastic leukemia (28%), and sirolimus/tacrolimus therapy after solid organ transplantation (14%). Five patients (14%) had type 1 hyperlipoproteinemia (T1HLP; familial chylomicronemia syndrome). The NHANES data revealed that none of the 2362 children had eHTG, and the prevalence in adults was 0.02%. Conclusions: Extreme HTG is rare in children and majority of the children had secondary causes. Patients with diabetes mellitus or receiving drugs, such as, L-asparaginase, corticosteroids, and sirolimus, should be closely monitored for eHTG. Prevalence of T1HLP is approximately 1 in 6000 at a tertiary care center with an estimated population prevalence of 1 in 3,00,000. Early neonatal screening and intervention for T1HLP can prevent life-threatening morbidities such as acute pancreatitis.