Work

Diagnosis of Hereditary Pancreatitis Following the Initial Acute Episode With Multiple Pseudocyst Complications

Year: 2024

Type: article

Abstract: 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.

Source: Cureus

DOI: 10.7759/cureus.73653

Author: Michimasa Fujiwara

Institution: National Hospital Organization Fukuyama Medical Center

Language: English

Topic: Pancreatitis Pathology and Treatment

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4404362330