Hereditary pancreatitis (HP) is an unusual form of pancreatitis inherited as an autosomal dominant disorder. Patients typically present with recurrent acute pancreatitis-like symptoms that eventually progress to chronic pancreatitis, resulting in pancreatic exocrine insufficiency or diabetes mellitus, and a high risk of developing pancreatic cancer. As such, early diagnosis is crucial. Herein, we present the case of an 11-year-old boy with no significant medical history, but a family history of type 1 diabetes and pancreatic cancer, who presented with intermittent epigastric pain and nausea. Imaging revealed multiple pancreatic pseudocysts, pancreatic stones, and pancreatic duct dilation, resulting in the diagnosis of acute-on-chronic pancreatitis. Genetic testing confirmed the presence of a mutation in the PRSS1 gene, ultimately resulting in the diagnosis of HP. The patient remained symptom-free for five years during follow-up post-treatment. This case highlights the importance of considering HP in young patients presenting with pseudocysts and other signs of chronic pancreatitis even during the initial acute episode.
Keywords: chronic pancreatitis; genetic testing; hereditary pancreatitis; pancreatic cysts; prss1; pseudocysts.
Copyright © 2024, Fujiwara et al.