Epigastric Pain & A Hidden Syndrome

A 75-year-old man presents with epigastric pain, diarrhea, and weight loss. Explore the diagnosis of Zollinger-Ellison syndrome and its key genetic association.

Multiple endocrine neoplasia type 1


A 75-year-old man presented to the emergency department with a 6-month history of epigastric pain, watery diarrhea, and weight loss. Esophagogastroduodenoscopy revealed severe esophagitis, antral erosions, and duodenal ulcers (left). The gastric pH was below 2, and a fasting serum gastrin level was above 1000 pg per milliliter (reference range, 13-115). Cross-sectional imaging identified a single tumor along the distal duodenum that was resected (right). Histopathological analysis showed a well-differentiated neuroendocrine tumor that was positive for gastrin on immunohistochemical staining. The diagnosis in this case is most closely associated with which of the following syndromes?

What is the most likely diagnosis?

Li–Fraumeni syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Von Hippel–Lindau syndrome

Endocrinology, Gastrinoma, Hypergastrinemia, Multiple endocrine neoplasia type 1, Zollinger-Ellison syndrome

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