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 A. Khashab, Ayesha Kamal, Anne Marie Lennon, Christi Walsh, Martin A. Makary, David C. Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh K. Singh

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

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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