S3220 Hereditary Chronic Pancreatitis in a Guatemalan Adolescent: Genetic Diagnosis in a Resource-Limited Setting

Introduction: Hereditary chronic pancreatitis (HCP) is a rare form of chronic pancreatitis associated with PRSS1 gene mutations, typically presenting in childhood. Timely genetic confirmation is challenging in low-resource countries, where limited access to molecular testing may delay diagnosis. Case Description/Methods: A 14-year-old girl from Guatemala presented to our public tertiary gastroenterology clinic with recurrent episodes of acute pancreatitis since early adolescence. She reported epigastric pain radiating to the back, nausea, and vomiting. Physical examination was unremarkable. Initial lab testing revealed lipase 207 U/L, normal triglycerides and calcium, and no evidence of infection or autoimmune markers. Prior abdominal ultrasound and magnetic resonance cholangiopancreatography (MRCP) were normal. Esophagogastroduodenoscopy showed hiatal insufficiency and mild gastritis. Cross-sectional imaging ruled out structural causes. Endoscopic ultrasound revealed parenchymal pseudolobulation, hyperechoic strands and foci, and hyperechoic main duct margins—meeting 4 Rosemont criteria for chronic pancreatitis. Genetic consultation recommended testing for hereditary pancreatitis. A panel revealed a PRSS1 gene mutation, confirming the diagnosis of hereditary chronic pancreatitis. The patient is currently asymptomatic and is under outpatient surveillance for long-term complications. Discussion: This case demonstrates the diagnostic complexity of HCP in resource-limited settings. Despite the rarity of PRSS1 mutations, high clinical suspicion guided the appropriate use of EUS and genetic testing. Early identification allows for monitoring of endocrine and exocrine insufficiency and pancreatic cancer risk. This report underscores the need to increase awareness of HCP and to improve access to genetic testing in developing countries. It also highlights the role of sequential, cost-effective diagnostic steps to reach definitive diagnoses even when high-end resources are scarce.