Location
Suwanee, GA
Start Date
6-5-2025 1:00 PM
End Date
6-5-2025 4:00 PM
Description
Introduction: Multiple Endocrine Neoplasia Type 1 (MEN1) is a hereditary syndrome characterized by tumors of the parathyroid, pancreas, and pituitary gland. Among its gastrointestinal manifestations, gastrinomas are particularly concerning due to their association with Zollinger-Ellison syndrome (ZES), which leads to excessive gastric acid secretion and peptic ulcer disease (PUD). These symptom overlaps can lead to misdiagnosis of MEN1 as peptic ulcer disease and gastroenteritis. Additionally, while ulcers are a well-recognized consequence of gastrinomas and MEN1, perforation remains a rare but life-threatening complication.
Case Presentation: A 36-year-old female initially presented with diffuse abdominal pain, nausea, vomiting, and diarrhea. She had a history of peptic ulcer disease and H. Pylori overgrowth and was initially treated for both, but her worsening symptoms led to further evaluation. CT imaging of her abdomen later revealed free intraperitoneal air, and an exploratory laparotomy confirmed a 3-mm perforated duodenal ulcer distal to the Ligament of Treitz. The ulcer was surgically resected with primary stapled intestinal anastomosis, and the patient was managed postoperatively with intravenous proton pump inhibitors and broad-spectrum antibiotics. Upon further questioning, the patient disclosed a family history of MEN1—her mother had undergone a Whipple procedure for a pancreatic tumor. Genetic testing confirmed MEN1 in the patient. Although the patient had no prior clinical manifestations of MEN1, her history of PUD and H. Pylori overgrowth prompted serum gastrin testing, which revealed significantly elevated levels of 327 pg/mL (reference range: < 100 pg/mL), confirming gastrinoma-associated hypergastrinemia. The delayed diagnosis, initially attributed to benign peptic ulcer disease and gastroenteritis, underscores the need for early recognition of MEN1-associated gastrointestinal pathology.
Discussion: This case highlights the importance of a proactive diagnostic approach in MEN1 patients with gastrointestinal symptoms. Key management considerations can include early serum gastrin testing, a lower threshold for abdominal imaging in high-risk patients, routine endoscopic surveillance for ulcer detection, and acid suppression therapy with dietary modifications. Multidisciplinary coordination among endocrinologists, gastroenterologists, and surgeons is essential for timely intervention and improved patient outcomes. By implementing these measures, clinicians can significantly reduce the morbidity and mortality associated with peptic ulcer complications in MEN1 patients.
Embargo Period
5-28-2025
Included in
Perforated Duodenal Ulcer in a Patient with Multiple Endocrine Neoplasia Type 1: A Case Report
Suwanee, GA
Introduction: Multiple Endocrine Neoplasia Type 1 (MEN1) is a hereditary syndrome characterized by tumors of the parathyroid, pancreas, and pituitary gland. Among its gastrointestinal manifestations, gastrinomas are particularly concerning due to their association with Zollinger-Ellison syndrome (ZES), which leads to excessive gastric acid secretion and peptic ulcer disease (PUD). These symptom overlaps can lead to misdiagnosis of MEN1 as peptic ulcer disease and gastroenteritis. Additionally, while ulcers are a well-recognized consequence of gastrinomas and MEN1, perforation remains a rare but life-threatening complication.
Case Presentation: A 36-year-old female initially presented with diffuse abdominal pain, nausea, vomiting, and diarrhea. She had a history of peptic ulcer disease and H. Pylori overgrowth and was initially treated for both, but her worsening symptoms led to further evaluation. CT imaging of her abdomen later revealed free intraperitoneal air, and an exploratory laparotomy confirmed a 3-mm perforated duodenal ulcer distal to the Ligament of Treitz. The ulcer was surgically resected with primary stapled intestinal anastomosis, and the patient was managed postoperatively with intravenous proton pump inhibitors and broad-spectrum antibiotics. Upon further questioning, the patient disclosed a family history of MEN1—her mother had undergone a Whipple procedure for a pancreatic tumor. Genetic testing confirmed MEN1 in the patient. Although the patient had no prior clinical manifestations of MEN1, her history of PUD and H. Pylori overgrowth prompted serum gastrin testing, which revealed significantly elevated levels of 327 pg/mL (reference range: < 100 pg/mL), confirming gastrinoma-associated hypergastrinemia. The delayed diagnosis, initially attributed to benign peptic ulcer disease and gastroenteritis, underscores the need for early recognition of MEN1-associated gastrointestinal pathology.
Discussion: This case highlights the importance of a proactive diagnostic approach in MEN1 patients with gastrointestinal symptoms. Key management considerations can include early serum gastrin testing, a lower threshold for abdominal imaging in high-risk patients, routine endoscopic surveillance for ulcer detection, and acid suppression therapy with dietary modifications. Multidisciplinary coordination among endocrinologists, gastroenterologists, and surgeons is essential for timely intervention and improved patient outcomes. By implementing these measures, clinicians can significantly reduce the morbidity and mortality associated with peptic ulcer complications in MEN1 patients.