title: Gastrointestinal manifestations in mastocytosis: a study of 83 patients.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  We sought to assess the clinical and pathologic features of gastrointestinal manifestations in patients with mastocytosis.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service de Gastroentérologie et Nutrition, Hôpital Saint-Antoine, AP-HP, Université Pierre et Marie Curie-Paris 6, Paris, France; Equipe AVENIR, Laboratoire INSERM U1057/UMR CNRS 7203, Université Pierre et Marie Curie 6, Paris, France; Equipe Interactions des bactéries commensales et probiotiques avec l'hôte, MICALIS, INRA, Jouy en Josas, France; Centre de Référence des Mastocytoses, Faculté de Médecine et AP-HP Necker-Enfants Malades, Paris, France.
authors.forename: Harry
authors.initials: H
authors.lastname: Sokol
authors.forename: Sophie
authors.initials: S
authors.lastname: Georgin-Lavialle
authors.forename: Danielle
authors.initials: D
authors.lastname: Canioni
authors.forename: Stéphane
authors.initials: S
authors.lastname: Barete
authors.forename: Gandhi
authors.initials: G
authors.lastname: Damaj
authors.forename: Erinn
authors.initials: E
authors.lastname: Soucie
authors.forename: Julie
authors.initials: J
authors.lastname: Bruneau
authors.forename: Marie-Olivia
authors.initials: MO
authors.lastname: Chandesris
authors.forename: Felipe
authors.initials: F
authors.lastname: Suarez
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Launay
authors.forename: Achille
authors.initials: A
authors.lastname: Aouba
authors.forename: Catherine
authors.initials: C
authors.lastname: Grandpeix-Guyodo
authors.forename: Fanny
authors.initials: F
authors.lastname: Lanternier
authors.forename: Bernard
authors.initials: B
authors.lastname: Grosbois
authors.forename: Christian
authors.initials: C
authors.lastname: de Gennes
authors.forename: Pascal
authors.initials: P
authors.lastname: Cathébras
authors.forename: Olivier
authors.initials: O
authors.lastname: Fain
authors.forename: Nadia
authors.initials: N
authors.lastname: Hoyeau-Idrissi
authors.forename: Patrice
authors.initials: P
authors.lastname: Dubreuil
authors.forename: Olivier
authors.initials: O
authors.lastname: Lortholary
authors.forename: Laurent
authors.initials: L
authors.lastname: Beaugerie
authors.forename: Brigitte
authors.initials: B
authors.lastname: Ranque
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
mesh_terms: D000328:Adult; D001706:Biopsy; D016022:Case-Control Studies; D003967:Diarrhea / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D005767:Gastrointestinal Diseases / Q000276:immunology / Q000473:pathology* / Q000503:physiopathology*; D041981:Gastrointestinal Tract / Q000276:immunology / Q000473:pathology; D006801:Humans; D008297:Male; D034721:Mastocytosis, Systemic / Q000276:immunology / Q000473:pathology*; D008875:Middle Aged; D019009:Proto-Oncogene Proteins c-kit / Q000378:metabolism; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires
chemical_list: D019009:Proto-Oncogene Proteins c-kit
keywords: MC; Mast cell; Mastocytosis; SM; Systemic mastocytosis; WT; Wild-type; c-Kit; gastrointestinal tract; mast cells