Systemic Mastocytosis in Medical Practice

Mastocytosis is a heterogeneous group of diseases characterized by excessive accumulation of mast cells in various organs or tissues (skin, bone marrow, digestive tract, bones) and which, through degranulation reactions, release histamine, being cells with an essential role in inflammation and allergic reactions anaphylaxis type. They secrete various chemical mediators, which being released by the mast cell can induce symptoms, without a direct relationship between total mast cell mass and the appearance of symptoms. The pathogenic mechanisms of mastocytosis are represented by the existence of somatic mutations, activators at the level of the c-kit molecule and by the presence of specific immunophenotypic aberrations at the level of mast cells. Serum tryptase, bone marrow biopsy and KIT D186V detection in peripheral leukocytes are the main approaches to patients with systemic mastocytosis. Therapeutic principles include symptom control, administration of antimediator therapy and tyrosine kinase inhibitors.