An Evaluation of Factors Associated with Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients with Idiopathic Pancreatitis

Niloofar Y. Jalaly, Robert A. Moran, Farshid Fargahi, Mouen Khashab, Ayesha Kamal, Anne Marie O'Broin-Lennon, Christi Walsh, Martin A Makary, David C. Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh Singh

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives:We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis.Methods:Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis. Logistic regression analysis was used to determine the factors associated with pathogenic genetic variants.Results:Among 197 ARIP and/or ICP patients evaluated from 2010 to 2015, 134 underwent genetic testing. A total of 88 pathogenic genetic variants were found in 64 (47.8%) patients. Pathogenic genetic variants were identified in 58, 63, and 27% of patients with ARIP, an unexplained first episode of AP <35 years of age, and ICP without ARP, respectively. ARIP (OR: 18.12; 95% CI: 2.16-151.87; P=0.008) and an unexplained first episode of AP<35 years of age (OR: 2.46; 95% CI: 1.18-5.15; P=0.017), but not ICP, were independently associated with pathogenic genetic variants in the adjusted analysis.Conclusions:Pathogenic genetic variants are most likely to be identified in patients with ARIP and an unexplained first episode of AP<35 years of age. Genetic testing in these patient populations may delineate an etiology and prevent unnecessary diagnostic testing and procedures.

Original languageEnglish (US)
Pages (from-to)1320-1329
Number of pages10
JournalAmerican Journal of Gastroenterology
Volume112
Issue number8
DOIs
StatePublished - Aug 1 2017

ASJC Scopus subject areas

  • Gastroenterology

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