Zollinger Ellison Syndrome Refractory to Medical Therapy in the Setting of Multiple Endocrine Neoplasia Type I

Abstract

Multiple Endocrine Neoplasia 1 (MEN1) syndrome is a genetic condition arising from a mutation of the MEN1 gene resulting in neuroendocrine tumor formation. Patients with MEN1 are at a higher risk of developing Zollinger-Ellison syndrome (ZES) due to the growth of neuroendocrine tumors called gastrinomas that release gastrin leading to hypersecretion of acid in the stomach resulting in severe ulcerative disease of the upper GI tract. Our case is a 42-year-old female with newly diagnosed MEN1 syndrome, presenting with acute abdominal pain and dyspepsia refractory to medical management including proton pump inhibitors (PPI) and H2 antagonists. ZES was biochemically confirmed with a secretin stimulation test and dotatate positron emission tomography/computed tomography (PET/CT) revealed multiple areas of hyper-metabolic activity within the gastrinoma triangle. However, no discrete masses could be appreciated on endoscopic ultrasound (EUS) or CT imaging that could provide a target for surgical intervention. This case elucidates not only the difficulty of gastrinoma localization in medically refractory ZES but also reinforces the need to screen patients with MEN1 presenting with acute abdominal pain and dyspepsia for ZES.