Abstract
Background and Objectives: Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells’ degranulation with acute or chronic clinical manifestations. Materials and Methods: In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Results: Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. We tried to emphasize the diagnostic criteria, differential diagnosis, and therapeutic strategies. Another primary mast cell disorder is mastocytosis, a condition with a long-known disease, in which patients have an increased number of mast cells that accumulate in different regions of the body with different clinical evolution in pediatric age. Conclusions: Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.
Highlights
Primary mast cell disorders include monoclonal mast cell activation syndrome (MCAS)and mastocytosis
Since both MCAS and mastocytosis share a massive activation of mast cells and consequent laboratory anomalies, Theoharides et al recommended to perform a bone marrow biopsy in order to rule out a Systemic Mastocytosis (SM) before safely diagnosing a MCAS [2]
In patients suffering from repeated signs and symptoms of mast cells’ (MCs) activation, we suggest testing for laboratory levels of mediators released by MCs, according to the availability of local laboratory, tryptase being the patient shows a significant most feasible
Summary
Primary mast cell disorders include monoclonal mast cell activation syndrome (MCAS). and mastocytosis. MCs are located inside the connective tissue of vascularized organs, in mucosal tissues (respiratory and intestinal, exerting a “sentinel” function), and mostly in the skin They contain many cytoplasmic granules containing prestored mediators, including histamine and tryptase, that are massively released in the blood stream after MCs are activated, leading to clinical manifestations. These cells produce pro-inflammatory mediators and cytokines, including histamine, cysteinyl leukotrienes, and prostaglandins, and certain proteoglycans such. More than 90% of patients with mastocytosis have a somatic gain-of-function mutation in the KIT receptor tyrosine kinase, primarily an aspartic acid-to-valine substitution (D816V), which results in enhanced survival and cell autonomous growth of neoplastic mast cells (MCs). Under pathological conditions, uncontrolled proliferation and enhanced survival of MCs can contribute to the disease pathogenesis [17]
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