Abstract
Mastocytosis is a spectrum of neoplastic, clonal cell disorders that are characterized by mast cell hyperplasia and accumulation. Disease and clinical presentation can vary depending on the extent of spread, ranging from skin-limited cutaneous mastocytosis to systemic mastocytosis that can mimic other disease processes. Symptoms may include pruritus, flushing, hypotension, headaches, abdominal pain, nausea, vomiting, and diarrhea. Although gastrointestinal (GI) symptoms are present in a majority of patients with systemic disease, the actual percentage of gut mast cell infiltration remains unknown. Here we describe a case of diarrhea secondary to GI involvement of systemic mastocytosis. A 55-year-old woman with a known history of systemic mastocytosis and medical noncompliance complained of persistent chronic diarrhea for one year. She was evaluated for other causes of diarrhea but all additional testing was unrevealing. She ultimately underwent upper endoscopy and colonoscopy in which biopsy and histologic analysis confirmed the presence of mastocyte infiltration. She was restarted on her medical therapy and her symptoms resolved. In conclusion, systemic mastocytosis is an uncommon cause of chronic diarrhea. However, in select patients, it is important to obtain a thorough medical history and exclude other potential causes.
Highlights
Mastocytosis refers to a group of disorders characterized by excessive mast cell accumulation in one or multiple tissues [1]
Mastocytosis is a spectrum of neoplastic, clonal cell disorders that are characterized by mast cell hyperplasia and accumulation
A 55-year-old woman with a known history of systemic mastocytosis and medical noncompliance complained of persistent chronic diarrhea for one year
Summary
Mastocytosis refers to a group of disorders characterized by excessive mast cell accumulation in one or multiple tissues [1]. These GI symptoms including abdominal pain, diarrhea, nausea, vomiting, peptic ulcer disease, and GI bleed can be precipitated by the same triggers that cause systemic symptoms. The patient admitted to fatigue, loss of appetite, weight loss, and itching She denied fevers or chills, diaphoresis, dysphagia, jaundice, excessive belching or flatulence, hematemesis, hematochezia, or melena. Past medical history included hepatitis C treated successfully with sofosbuvir-velpatasvir, liver cirrhosis, esophageal varices, Barrett esophagus, systemic mastocytosis, pancytopenia, medical therapy noncompliance, and alcoholism.
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