Abstract
The prevalence of anaphylaxis among patients with clonal mast cell disorders (MCD) is clearly higher comparing to the general population. Due to a lower frequency of symptoms outside of acute episodes, clonal MCD in the absence of skin lesions might sometimes be difficult to identify which may lead to underdiagnosis, and anaphylaxis is commonly the presenting symptom in these patients. Although the release of mast cell (MC) mediators upon MC activation might present with a wide variety of symptoms, particular clinical features typically characterize MC mediator release episodes in patients with clonal MCD without skin involvement. Final diagnosis requires a bone marrow study, and it is recommended that this should be done in reference centers. In this article, we address the main triggers for anaphylaxis, risk factors, clinical presentation, diagnosis, and management of patients with MC activation syndromes (MCASs), with special emphasis on clonal MCAS [systemic mastocytosis and mono(clonal) MC activations syndromes].
Highlights
Anaphylaxis occurs as a result of the sudden release of a wide broad of mediators from mast cells (MCs) and basophils
Mast cells are ubiquous immune cells that preferentially reside as mature cells in the connective tissue from body sites acting as natural barriers for exogenous antigens such as the skin and the gastrointestinal or respiratory tracts, among other tissues; despite this, mature MCs derive from a hematopoietic precursor in the bone marrow (BM)
The key feature that defines primary MC activation syndromes (MCASs) is the demonstration of clonal BM MCs, which results into a constitutive hyperactivity of MCs
Summary
Anaphylaxis occurs as a result of the sudden release of a wide broad of mediators from mast cells (MCs) and basophils. It may show heterogeneous symptoms involving different organs and tissues as far as it fulfils the proposed diagnostic criteria [1], but it usually presents as a serious reaction which can be life threatening or fatal [2]. The term MC activation syndrome (MCAS) encompasses a heterogeneous group of disorders characterized by the existence of clinical symptoms secondary to the systemic effects of mediators released by MCs upon their activation, including anaphylaxis. We review the main triggers, risk factors, clinical presentation, diagnosis, and management of patients with MCAS, with special emphasis on primary (clonal) MCAS (SM and MMAS)
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