Gastrointestinal manifestations in mastocytosis: A study of 83 patients

• Published in: Journal of allergy and clinical immunology Vol. 132; no. 4; pp. 866 - 873.e3
• Main Authors: Sokol, Harry, Georgin-Lavialle, Sophie, Canioni, Danielle, Barete, Stéphane, Damaj, Gandhi, Soucie, Erinn, Bruneau, Julie, Chandesris, Marie-Olivia, Suarez, Felipe, Launay, Jean-Marie, Aouba, Achille, Grandpeix-Guyodo, Catherine, Lanternier, Fanny, Grosbois, Bernard, de Gennes, Christian, Cathébras, Pascal, Fain, Olivier, Hoyeau-Idrissi, Nadia, Dubreuil, Patrice, Lortholary, Olivier, Beaugerie, Laurent, Ranque, Brigitte, Hermine, Olivier
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.10.2013; Elsevier; Elsevier Limited
• Subjects: Abdomen; Adult; Allergy and Immunology; Biological and medical sciences; Biopsy; c-Kit; Case-Control Studies; Chemical Sciences; Diarrhea; Diarrhea - metabolism; Diarrhea - physiopathology; Disability; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gastrointestinal Diseases - immunology; Gastrointestinal Diseases - pathology; Gastrointestinal Diseases - physiopathology; gastrointestinal system; gastrointestinal tract; Gastrointestinal Tract - immunology; Gastrointestinal Tract - pathology; histology; Hospitals; Humans; Immunopathology; Inflammatory bowel disease; irritable bowel syndrome; Kinases; Male; mast cells; Mastocytosis; Mastocytosis, Systemic - immunology; Mastocytosis, Systemic - pathology; medical history; Medical sciences; Middle Aged; Mutation; Nausea; Organic chemistry; Pain; patients; Proto-Oncogene Proteins c-kit - metabolism; Questionnaires; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Severity of Illness Index; Surveys and Questionnaires; Vomiting; Mastocytosis; gastrointestinal tract; c-Kit; MC; SM; mast cells; WT; Mast cell; Wild-type; Systemic mastocytosis; Human; Immunopathology; Immunology; C-Onc gene; Gastrointestinal; kit Gene; Protooncogene; ACTIVATION; ABNORMALITIES; INVOLVEMENT; DISORDERS; SYSTEMIC MASTOCYTOSIS; MAST-CELL DISEASE; KIT MUTATION; MALABSORPTION; TRYPTASE; LEUKEMIA
• ISSN: 0091-6749; 1097-6825; 1097-6825
• DOI: 10.1016/j.jaci.2013.05.026

Mastocytosis is a heterogeneous disease characterized by mast cell accumulation in 1 or more organs. Gastrointestinal manifestations of systemic mastocytosis have been previously studied in small cohorts of patients, and no specific histologic description is available. We sought to assess the clinical and pathologic features of gastrointestinal manifestations in patients with mastocytosis. Medical history and gastrointestinal symptoms of patients with mastocytosis (n = 83) were compared with those of matched healthy subjects (n = 83) by means of patient questionnaire. Data were analyzed for epidemiologic, clinical, biological, and genetic factors associated with gastrointestinal symptoms for patients with mastocytosis. A comparative analysis of gastrointestinal histology from patients with mastocytosis (n = 23), control subjects with inflammatory bowel disease (n = 17), and healthy subjects (n = 19) was performed. The following gastrointestinal symptoms occurred more frequently and were more severe in patients with mastocytosis than in healthy subjects: bloating (33% vs 7.2%, P < .0001), abdominal pain (27.3% vs 4.8%, P < .0001), nausea (23% vs 8.4%, P = .02), and diarrhea (33.85% vs 1.2%, P < .0001). Patients with mastocytosis had a significantly higher incidence of personal history of duodenal ulcer (P = .02). Wild-type (WT) c-Kit was associated with diarrhea (P = .03). Specific histologic lesions were present in patients with mastocytosis but were not correlated with clinical symptoms. Gastrointestinal manifestations in patients with mastocytosis are highly prevalent and often severe. Clinical symptoms do not correspond to histologic findings, are nonspecific, and can simulate irritable bowel syndrome.