A 40-year-old man comes to the office due to recurrent epigastric abdominal pain, nausea, and watery diarrhea for the past several months. The patient has had similar burning pain previously and was treated for peptic ulcer disease. He has been taking over-the-counter antacids but with no significant symptom relief. The patient does not use tobacco, alcohol, or illicit drugs. Vital signs are within normal limits. Abdominal examination shows mild epigastric tenderness and increased bowel sounds. Testing for stool occult blood is positive, and laboratory studies show microcytic hypochromic anemia. Serum gastrin level is markedly elevated. Upper gastrointestinal endoscopy reveals prominent gastric folds and multiple ulcers in the duodenum and proximal jejunum. Given these findings, this patient should be assessed for a personal or family history of which of the following conditions?

Question

A 40-year-old man comes to the office due to recurrent epigastric abdominal pain, nausea, and watery diarrhea for the past several months.  The patient has had similar burning pain previously and was treated for peptic ulcer disease.  He has been taking over-the-counter antacids but with no significant symptom relief.  The patient does not use tobacco, alcohol, or illicit drugs.  Vital signs are within normal limits.  Abdominal examination shows mild epigastric tenderness and increased bowel sounds.  Testing for stool occult blood is positive, and laboratory studies show microcytic hypochromic anemia.  Serum gastrin level is markedly elevated.  Upper gastrointestinal endoscopy reveals prominent gastric folds and multiple ulcers in the duodenum and proximal jejunum.  Given these findings, this patient should be assessed for a personal or family history of which of the following conditions?

Quizplus · Accepted Answer

11ec160b_3916_80d5_9249_e3ea0cdfc421_MD0001_00 This patient's recurrent peptic ulcer disease, associated with chronic blood loss (iron deficiency) anemia and an elevated gastrin level, is likely due to a gastrin-secreting pancreatic tumor (Zollinger-Ellison syndrome). Although most gastrinomas are sporadic, 20%-30% occur in association with multiple endocrine neoplasia type 1 (MEN1). This autosomal dominant disorder is most often due to mutations of the MEN1 gene (menin protein) and is characterized by parathyroid adenomas, pituitary tumors, and pancreatic endocrine tumors (the 3 Ps). Patients with Zollinger-Ellison syndrome or other pancreatic neuroendocrine tumors should be assessed for symptoms or family history of other MEN1 manifestations. Potential associated conditions include primary hyperparathyroidism (eg, hypercalcemia, constipation, kidney stones) and pituitary adenomas (eg, headaches, visual field defects). (Choices A and C) Von Hippel-Lindau disease (VHL) is an autosomal dominant disorder characterized by multiple tumors, including hemangioblastomas, pheochromocytoma, and renal cell carcinoma. Plexiform neurofibromas are large aggregates of neuronal cells, supporting cells, and connective tissue that are seen in approximately 30% of patients with neurofibromatosis type 1 (NF1). Although an increased incidence of pancreatic endocrine tumors has been reported in both VHL and NF1, these associations are much less frequent than in MEN1. (Choices B and E) MEN2A consists of medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. MEN2B (also known as MEN3) is associated with medullary thyroid cancer, pheochromocytoma, mucosal neuromas, and a marfanoid habitus. The MEN2 syndromes are not associated with pancreatic endocrine tumors. Educational objective: Multiple endocrine neoplasia type 1 consists of hyperparathyroidism (eg, hypercalcemia, constipation, kidney stones), pituitary tumors, and pancreatic endocrine tumors (eg, gastrinoma). The genetic defect involves mutations of the MEN1 gene. __________ References: Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). (http://www.ncbi.nlm.nih.gov/pubmed/22723327)

A 40-Year-Old Man Comes to the Office Due to Recurrent