Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants

• Published in: Journal of digestive diseases 2017-06, Vol.18 (6), p.359-368
• Main Authors: Chen, Wan Jun, Sun, Xiao Fan, Zhang, Rui Xue, Xu, Min Jie, Dou, Tong Hai, Zhang, Xiao Bin, Zhong, Min, Yang, Wei Qiang, Liu, Li, Lu, Xiao Ye, Zhu, Chang Qing
• Format: Article
• Language: English
• Subjects: Acute Disease; acute pancreatitis; Adult; Aged; Apolipoprotein A; Apolipoprotein E; Apolipoproteins - genetics; DNA sequencing; Emergency Service, Hospital; Female; gene mutation; Humans; Hypertriglyceridemia; Hypertriglyceridemia - complications; Hypertriglyceridemia - genetics; Lipoprotein Lipase - genetics; Male; Membrane Proteins - genetics; Middle Aged; Mutation; Pancreatitis; Pancreatitis - genetics; Point mutation; Receptors, Lipoprotein - genetics; Retrospective Studies; src-Family Kinases - genetics
• ISSN: 1751-2972; 1751-2980
• DOI: 10.1111/1751-2980.12490

OBJECTIVE To investigate the clinical characteristics of patients with hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to hypertriglyceridemia in such patients. METHODS Clinical data from 329 patients with acute pancreatitis (AP) were analyzed. The patients were divided into the HTGAP group, with fasting serum triglyceride (TG) levels ≥500 mg/dL (5.65 mmol/L), and the non‐HTGAP (NHTGAP) group. Targeted next‐generation sequencing was applied to 11 HTGAP patients to identify the genetic mutations associated with hypertriglyceridemia, including apolipoprotein A‐V (APOA5), APOC2, APOC3 and APOE, BLK, LPL, GPIHBP1 and LMF1. RESULTS Patients in the HTGAP group, compared with those in the NHTGAP group, had a higher mortality rate (7.5% vs 0.7%, P = 0.001), more commonly seen severe AP (17.5% vs 5.2%, P = 0.004) as well as a higher recurrence rate (32.4% vs 19.9%, P = 0.070). DNA sequencing showed that two patients carried the same compound of p.G185C and p.V153M heterozygous mutations located in the APOA5 gene. Two patients carried a homozygous variation of p.C14F, in the GPIHBP1 gene. One patient had a homozygous variation of p.R176C in the APOE gene. And a rare heterozygous LMF1 gene mutation of p.P562R was detected in two patients. CONCLUSIONS HTGAP was significantly severe than NHTGAP, with a high recurrence rate. Genetic information may be useful in the clinical setting for the investigation of the pathogenesis of HTGAP and its interventions.