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News

Genetic variants in patients with idiopathic pancreatitis

The latest American Journal of Gastroenterology evaluates factors associated with pathogenic PRSS1, SPINK1, CTFR, and/or CTRC genetic variants in patients with idiopathic pancreatitis.

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Dr Vikesh Singh and colleagues from Maryland, USA evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis.

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, including acute recurrent idiopathic pancreatitis with or without underlying chronic pancreatitis, and idiopathic chronic pancreatitis without a history of acute recurrent pancreatitis.

The team also classified patients into an unexplained first episode of acute pancreatitis less than 35 years of age, and family history of pancreatitis.

A total of 88 pathogenic genetic variants were found in 48% of patients
American Journal of Gastroenterology

The researchers noted that among 197 acute recurrent idiopathic pancreatitis and/or idiopathic chronic pancreatitis patients evaluated from 2010 to 2015, 134 underwent genetic testing.

A total of 88 pathogenic genetic variants were found in 48% of patients.
 
Pathogenic genetic variants were identified in 58%, 63%, and 27% of patients with acute recurrent idiopathic pancreatitis, an unexplained first episode of acute pancreatitis less than 35 years of age, and idiopathic chronic pancreatitis without acute recurrent pancreatitis, respectively.

The researchers found that acute recurrent idiopathic pancreatitis and an unexplained first episode of acute pancreatitis less than 35 years of age, but not idiopathic chronic pancreatitis, were independently associated with pathogenic genetic variants in the adjusted analysis.

Dr Singh's team concludes, "Pathogenic genetic variants are most likely to be identified in patients with acute recurrent idiopathic pancreatitis, and an unexplained first episode of acute pancreatitis less than 35 years of age."

"Genetic testing in these patient populations may delineate an etiology and prevent unnecessary diagnostic testing and procedures."

Am J Gastroenterol 2017; 112: 1320–1329
15 August 2017

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