A Rare but Important Cause of Pancreatitis: A Case of a SPINK 1 Mutation in a Young Female

The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The Serine Protease Inhibitor Kazal Type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis. This gene can have a mutation in the serine protease inhibitor Kazal Type 1, which results in trypsinogen activation that leads to auto-digestion of the pancreatic tissue and eventually pancreatitis. Patients with these genetic polymorphisms struggle with multiple bouts of pancreatitis per year, and in some cases, they even suffer from high morbidity rates. Treatment for patients with genetic predispositions is similar to those without, and typically involves supportive care. Here we present a case of a young 17-year-old female with past medical history of recurrent pancreatitis, who initially presented with severe epigastric pain radiating to her back and abdomen. She has a history of the SPINK 1 mutation and has had two attacks per year since her first diagnosis. Her family history is significant for SPINK 1 mutation in both her father and brother. In the hospital, CT scan showed dilation of the pancreatic tail with no evidence of pseudocyst. She received supportive care with IV fluids, bowel rest and pain control, and her condition improved within two days. This case illustrates the variability in conditions which can contribute to pancreatitis and the importance of identifying patients who are at risk for recurrent acute pancreatitis and/or chronic pancreatitis due to genetic polymorphisms. Additionally, recurrent episodes of pancreatitis can also lead to pancreatic cancer. This is especially common in those who are found to have ductal abnormalities or pancreatic calcifications. In order to decrease the number of acute bouts of pancreatitis and to minimize the risk of potential pancreatic cancer development, we developed a specific outpatient monitoring regimen for our patient.


Megan Sidana, Arabhi Nagasundar, Sharanpreet Kaur, Leeda Mathew, Mehrdad Asgeri 

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