A Case of Intestinal Mastocytosis Misdiagnosed as Crohn's Disease

Abstract

Systemic mastocytosis (SM) is a rare, heterogeneous and progressive disease, characterized by the accumulation of atypical mast cells in various organs, including the gastrointestinal tract. Gastrointestinal symptoms are present in up to 80% of patients with SM, the most common being abdominal pain, diarrhea, nausea and vomiting. Up to 50% of patients with SM do not have classical skin lesions at presentation, and in these patients the diagnosis of SM can be difficult for years. Here we report a case of SM that initially mimicked inflammatory bowel disease, although the patient showed poor response to steroid therapy. The right diagnosis was made only on the surgical specimen obtained after emergency surgery for intestinal obstruction. SM should therefore be considered in the diagnostic approach in patients with gastrointestinal symptoms not attributable to other pathologies and in cases of suspected inflammatory bowel disease with unusual course.

Systemic Mastocytosis: A Rare Cause of Diarrhea

“…Endoscopy and colonoscopy should be obtained at the digression of the treating provider to rule out alternative or additional pathology. Commonly, endoscopic features in SM patients are peptic esophagitis, peptic ulcers, thickened gastric or duodenal folds, nodular mucosa, ulcerative lesions, and dilated bowel loops [13][14]. In our patient, diffuse thickening and nodular changes were seen grossly and mastocytosis was present on mucosal biopsy.…”

Mastocytosis Colitis in 54 year old woman: A rare case report

“…GI tract symptoms occur on 14-85% patients with systemic mastocytosis. (Horny et al, 2017;Reggiania et al, 2015).…”

“…GI tract symptoms include abdominal pain, diarrhea, nausea, vomiting, and bloating. (Horny et al, 2017;Hyungil et al, 2016;Reggiania et al, 2015).…”

“…Histological documentation in the small intestine may show the presence of large numbers of atypical mast cells, increased plasma cell and eosinophil content in the lamina propria; Villous fluttering and atrophy may be seen. (Reggiania et al, 2015). SM is determined by major and minor criteria, a minimum of 1 major and 1 minor criteria, or at least 3 minor criteria met.…”