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- W2978432885 abstract "Introduction: Mast cells are known to have immunoregulatory function at the gastrointestinal mucosal interface. Mast cell activation disorders (MCAD) are characterized by accumulation of pathological mast cells in various organs and aberrant release of mast cell mediators. We present a case of MCAD with gastrointestinal manifestations. Case Report: A 68 year-old Caucasian female with a history of IBS, allergic rhinitis, migraines, and recurrent syncope presented with a 3-year history of episodic abdominal cramping, 3-5 loose, small-volume stools per day, and 30-pound weight loss. She also described episodic chest pain, dyspnea, recurrent episodes of loss of consciousness. She had an extensive workup including stool studies, Celiac disease testing, thyroid function tests, and serum imunoglobulins, which were nonrevealing. CT abdomen, EGD, and colonoscopy did not reveal any mucosal abnormalities or bowel thickening. The endoscopic biopsies did not reveal evidence of eosinophilic esophagitis and the duodenal biopsies showed minimal intraepithelial lymphocytosis. Due to recurrent episodes of syncope along with chronic diarrhea we obtained a tryptase level which was elevated at 18.2 ug/L (normal < 10.9 ug/L) and plasma histamine level elevated at 10 (normal < 8 nmol/L). Patient was further evaluated for C- KIT point mutation which was negative. She was subsequently given a diagnosis of MCAD. She had significant improvement in her symptoms after initiation of therapy with antihistamines, mast cell stabilizers and leukotriene inhibitor. Discussion: Diagnosis ofMCAD remains a challenge as it affects more than one organ system with waxing and waning symptoms. Gastrointestinal manifestations in patients with MCAD include abdominal pain, diarrhea, esophageal reflux, nausea, and vomiting. Our patient's recurrent syncope, weight loss, dyspnea, and migraines could all be explained by mast cell activation process. If a mast cell disorder is suspected, total tryptase levels are checked because mature tryptase is stored inside the secretory granules of mast cells and is released upon activation of mast cells. C-kit point mutations (most commonly D816V) and aberrant CD25 expression help differentiate monoclonal mast cell activation from mast cell activation disorder. Gastroenterologists must consider mast cell disorders in their differential diagnosis of chronic diarrhea, especially when patients have symptoms involving more than one organ system." @default.
- W2978432885 created "2019-10-10" @default.
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- W2978432885 date "2016-10-01" @default.
- W2978432885 modified "2023-09-25" @default.
- W2978432885 title "Mast Cell Activation Disorder: A Rare Cause of Chronic Diarrhea and Abdominal Pain" @default.
- W2978432885 doi "https://doi.org/10.14309/00000434-201610001-02116" @default.
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