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
Department of Emergency Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Outpatient and Emergency Department, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
J Dig Dis. 2017 Jun;18(6):359-368. doi: 10.1111/1751-2980.12490.
To investigate the clinical characteristics of patients with hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to hypertriglyceridemia in such patients.
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.
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.
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.
探讨高甘油三酯血症性急性胰腺炎（HTGAP）患者的临床特征，以及导致此类患者高甘油三酯血症的分子基础。
分析329例急性胰腺炎（AP）患者的临床资料。将患者分为HTGAP组（空腹血清甘油三酯（TG）水平≥500mg/dL（5.65mmol/L））和非HTGAP（NHTGAP）组。对11例HTGAP患者进行靶向二代测序，以鉴定与高甘油三酯血症相关的基因突变，包括载脂蛋白A-V（APOA5）、APOC2、APOC3和APOE、BLK、LPL、GPIHBP1和LMF1。
与NHTGAP组患者相比，HTGAP组患者的死亡率更高（7.5%对0.7%，P=0.001），重度AP更常见（17.5%对5.2%，P=0.004），复发率也更高（32.4%对19.9%，P=0.070）。DNA测序显示，两名患者携带位于APOA5基因的相同p.G185C和p.V153M复合杂合突变。两名患者携带GPIHBP1基因p.C14F的纯合变异。一名患者在APOE基因中有p.R176C的纯合变异。在两名患者中检测到罕见的LMF1基因p.P562R杂合突变。
HTGAP比NHTGAP严重得多，复发率高。遗传信息可能有助于临床研究HTGAP的发病机制及其干预措施。
