# A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis

## TL;DR

A 29-year-old man with acute pancreatitis had two rare genetic mutations that both increase pancreatitis risk, highlighting the value of genetic testing.

## Contribution

First reported case of PRSS1 and UGT1A1 mutations co-occurring in a single patient with acute pancreatitis.

## Key findings

- The patient had both PRSS1 and UGT1A1 mutations, each known to cause acute pancreatitis.
- This case suggests a potential synergistic effect between the two mutations.
- The findings emphasize the importance of genetic testing in diagnosing acute pancreatitis.

## Abstract

Acute pancreatitis (AP) is a multifactorial disease. Genetic predisposition as the etiology of AP is rare. We report the case of a 29-year-old male patient who presented with symptoms suggestive of AP. A complete workup, including genetic analysis, revealed the presence of both protease serine 1 (PRSS1) and UDP Glucuronosyltransferase family 1 member A1 (UGT1A1) mutations. Both PRSS1 and UGT1A1 mutations can cause AP by different mechanisms. This case has been reported because of the novelty of the two different genetic mutations in the same individual that could independently increase pancreatitis risk. The possible synergistic effect has not been reported previously. Understanding this interaction emphasizes the importance of genetic testing in AP.