The Role of Genetics in Pancreatitis - 20/09/18

Doi : 10.1016/j.giec.2018.06.001

Aws Hasan, MD ^a, Dagmara I. Moscoso, MS ^b, Fay Kastrinos, MD, MPH ^c,^⁎
^a Department of Internal Medicine, Columbia University Medical Center, 630 West 168 Street, New York, NY, 10032, USA
^b Division of Digestive and Liver Diseases, Columbia University Medical Center, 630 West 168 Street, New York, NY, 10032, USA
^c Division of Digestive and Liver Diseases, Columbia University Medical Center, Herbert Irving Comprehensive Cancer Center, 161 Fort Washington Avenue, Suite 862, New York, NY 10032, USA

^∗Corresponding author.

Résumé

Individuals with acute recurrent and chronic pancreatitis may have an inherited predisposition to the development of the disease. Pancreatitis in the setting of a significant family history of the disease can be classified as hereditary or familial pancreatitis. In this article, the authors closely examine the specific genes implicated in pancreatitis, investigate the role of genetic testing for diagnosis, and describe the impact of genetic testing results on clinical management.

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Keywords : Hereditary pancreatitis, Familial pancreatitis, Genetic evaluation, Genetic variants associated with pancreatitis, PRSS1, SPINK1, CFTR