Acute Pancreatitis as an Initial Presentation of Hereditary Chronic Calcific Pancreatitis with Pancreatic Duct Stones: A Case Report

Background: Hereditary pancreatitis is a rare type of chronic pancreatitis that is due to an inherited germline mutation, involving pancreatic trypsin activity. This condition causes either increased trypsinogen activation or impaired trypsin inhibition/degradation, resulting in recurrent pancreatic injury and progression to chronic pancreatitis. Case presentation: We present the case of a young male who presented with acute pancreatitis in the setting of a positive family history of chronic pancreatitis. He had no prior similar episodes. Imaging revealed features consistent with chronic calcific pancreatitis, including diffuse dilation of the main pancreatic duct with intraductal stones. The patient underwent ERCP with pancreatic sphincterotomy and successful removal of multiple pancreatic stones resulting in symptomatic relief. Genetic testing confirmed the diagnosis of hereditary pancreatitis with identification of a pathogenic PRSS1 mutation. Management: Therapeutic interventions typically involve management of acute pancreatitis flares and its complications, chronic pain management, exocrine and endocrine insufficiency, and endoscopic and surgical interventions, and genetic counseling and surveillance. Conclusion: Our case report emphasizes the significance of taking hereditary pancreatitis into account in acute-on-chronic presentations. This helps in establishing a genetic diagnosis for directing treatment, long-term surveillance, and family screening.