Mast cell activation syndrome: is anaphylaxis part of the phenotype? A systematic review.

PURPOSE OF REVIEW: Mast cell activation syndrome (MCAS) and anaphylaxis are the result of a spontaneous or triggered pathological degranulation of mast cells (MCs) and might have as substrate normal or pathological MCs (increased burden, aberrant MCs or both). RECENT FINDINGS: This review summarizes the most recent evidence on immunoglobulin E (IgE)-mediated and non IgE-mediated mechanisms underlying MC activation and degranulation and highlights the importance of standardized diagnostic criteria for MCAS. Application of these criteria implies that in most cases the clinical presentation of MCAS meets the diagnostic criteria for anaphylaxis. SUMMARY: Integrating clinical parameters and diagnostic test recognition and underlying clonal MC disease are of utmost importance for a patient-tailored approach. Hereditary alpha-tryptasemia can be encountered in context of anaphylaxis, MCAS and primary MC disorders.

Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review.

In recent years, knowledge about mechanisms underlying mast cell activation (MCA) and accumulation in various pathologic conditions increased substantially. In addition, criteria and a classification of MCA syndromes (MCASs) have been set forth. MCAS is defined by typical clinical symptoms, a substantial increase in serum tryptase level during an attack over the patient's baseline tryptase, and a response of the symptoms to drugs targeting mast cells, mediator production, and/or mediator effects. Alternative diagnostic criteria of MCAS have also been suggested, but these alternative criteria often lack specificity and validation. In this report, we critically review the contemporary literature relating to MCAS and compare the specificity, sensitivity, and strength of MCAS-related parameters within proposals to diagnose and classify MCAS and its variants. Furthermore, we highlight the need to apply specific consensus criteria in the evaluation and classification of MCAS in individual patients. This is an urgent and important medical necessity because as an increasing number of patients are being given a misdiagnosis of MCAS based on nonspecific criteria, which contributes to confusion and frustration by patients and caregivers and sometimes may delay recognition and treatment of correct medical conditions that often turn out to be unrelated to MCA.