Hypertriglyceridemic acute pancreatitis in an Emergency Department: the typical clinical features and genetic variants

OBJECTIVE To investigate the clinical characteristics of hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to the hypertriglyceridemia in this group of patients. METHODS Clinical data from 329 patients with AP were collected and analyzed. All the patients were divided into 1) HTGAP group (n = 40), with fasting serum triglyceride ≥ 500 mg/dL; and 2) NHTGAP group (n = 289). Next, the targeted next-generation sequencing was applied in 11 HTGAP patients to detect the genetic mutation associated with hypertriglyceridemia that included apolipoprotein A-5 (APOA5), apolipoprotein C-3 (APOC3), apolipoprotein E (APOE), BLK proto-oncogene, lipoprotein lipase (LPL), apolipoprotein C-2 (APOC2), glycosylphosphatidylinositol anchored high density lipoprotein binding protein-1(GPIHBP1), and lipase maturation factor-1(LMF1). RESULTS 1) A higher mortality rate was seen in HTGAP group (3/40, 7.5 %) than NHTGAP group (2/289, 0.69 %) (p = 0.014). The proportion of severe AP was higher in HTGAP group (7/40, 17.50%) vs. in NHTGAP group (15/289, 5.20%, p=0.004). The recurrence rate had a higher trend in HTGAP group than that in NHTGAP (12/37, 32.43 % vs.56/287, 19.51 %, p=0.070). 2) DNA sequencing showed that 2 patients carried the same compound of p.G 185C and p.V 153 M heterozygous mutations located in APOA5 gene; 2 patients carried homozygous variation of p. C 14F, in GPIHBPI gene; 1 patient had a homozygous variation of p. R176C, in APOE gene; a rare heterozygous LMF1 gene mutation of p. P562R was detected in 2 patients. CONCLUSIONS HTGAP had significantly remarkable severity and a higher trend of recurrence rate. Genetic information may be helpful for clinicians to investigate the pathogenesis of HTGAP and take interventions. Copyright © 2017 John Wiley & Sons, Ltd.