2001 Mastocytosis Complicated by Upper and Lower GI Bleeding

Abstract

INTRODUCTION: Mastocytosis is a rare disease caused by the abnormal proliferation and accumulation of mast cells in 1 or more organs of the body and is divided into cutaneous and systemic disease. Patients have increased susceptibility to urticaria, pruritis and anaphylactic shock. GI manifestations are thought to be related to direct mast cell infiltration and release of mast cell mediators. CASE DESCRIPTION/METHODS: A 39-year-old woman with a history of cutaneous mastocytosis intolerant to cromolyn sodium, Roux-en-Y gastric bypass, gastritis, celiac disease and hemorrhoids presented with melena and hematemesis following a mastocytosis flare and concurrent pneumonia. She had no prior history of GI bleeding, PUD, H. Pylori infection, NSAID or anticoagulation use, liver disease, or family history of GI malignancies. Prior EGDs and colonoscopies were unremarkable. She was on a chronic high-dose of famotidine and prednisolone taken as needed. Physical exam showed mild epigastric and left upper quadrant tenderness, bilateral rhonchi, and hemodynamic stability. Initial laboratory findings were insignificant. She was given IV pantoprazole BID and continued to have melena while remaining stable; with Hb down-trending to 11.6 gm/dL. EGD revealed a large gastric pouch with Roux-en-Y anatomy and 2 non-bleeding cratered ulcers near the congested, erythematous gastrojejunal anastomosis. The larger ulcer (9 mm) had a visible vessel and was clipped. Pathology revealed reactive gastropathy, mild chronic inflammation without H. pylori. Jejunal biopsies showed congestive mucosa and mild acute on chronic inflammation. The patient resumed IV continuous infusion of pantoprazole for 48 hours then transitioned to oral PPI with her usual famotidine. DISCUSSION: Up to 80% of patients with systemic mastocytosis can present with a variety of GI symptoms, with the most common being diarrhea and abdominal pain. Though the etiology of diarrhea is not well understood, abdominal pain is largely attributed to dyspepsia and gastroduodenal ulcers resulting from acid hypersecretion. Symptomatic treatment for GI symptoms largely depends on anti-mediator therapy where H1 and H2 receptors are typically combined. PPIs are added to treat gastric involvement. Cromolyn sodium is a highly effective treatment for GI manifestations (100-200 mg PO up to 4 times/day). Oral corticosteroids may relieve malabsorption and ascites in the rare cases of liver involvement. Lifestyle modifications include avoidance of triggers and stress management if possible.