Published Online: July 29, 2013
Mastocytosis is a heterogeneous disease characterized by mast cells- accumulation in one or more organs and often associated with c-KIT mutations. Clinical manifestations of mastocytosis are variable, and can be related to the release of mast cells’ mediators, such as tryptase and histamine, or to pathological mast cell infiltration. Gastro-intestinal manifestations of systemic mastocytosis have only been studied on small cohorts of patients and no specific histological description is available.
In a paper published in The Journal of Allergy & Clinical Immunology (JACI), Sokol et al aimed to assess clinical and pathological features of gastro-intestinal manifestations in mastocytosis. Firstly, the authors described the gastro-intestinal manifestations in a large cohort of mastocytosis patients (n=83) and compared these data to healthy age-matched controls. Serum tryptase level as well as c-KIT mutations were also taken into account.
Secondly, the authors analyzed the gastro-intestinal pathological features of mastocytosis patients (n=23) and compared them to control patients with inflammatory bowel disease (n=17) and healthy subjects (n=19). They notably looked at cellular infiltrate, mast cells abundance and localization.
The authors found that mastocytosis patients presented with significantly more frequent personal history of gastro-duodenal ulcer compared to healthy controls. Gastro-intestinal symptoms such as bloating, abdominal pain, nausea, vomiting and liquid stools were more frequent in mastocytosis patients than in matched healthy subjects and mimicked manifestations of irritable bowel syndrome. Severe gastro-intestinal symptoms were observed in 59% of mastocytosis patients and were associated with an altered quality of life. The authors found that wild type (WT) c-KIT was associated with diarrhea. Specific histological lesions, such as CD25 positive mast cells and mast cells aggregates, were present in mastocytosis patients but were not correlated with clinical symptoms.
The Journal of Allergy and Clinical Immunology (JACI) is an official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.