Frequency of clonal mast cell diseases among patients presenting with anaphylaxis: A prospective study in 178 patients from 5 tertiary centers in Spain

González-de-Olano, David; Esteban-López, Maria Isabel; Alonso-Díaz-de-Durana, M D; González-Mancebo, E; Gandolfo-Cano, M; Mohedano-Vicente, E; Balugo-López, V.; Fiandor, Ana; Mielgo-Ballesteros, Ruth; Vega-Castro, A; García‐Montero, Andrés C.; Órfão, Alberto; Escribano, Luís; Álvarez‐Twose, Iván

doi:10.1016/j.jaip.2019.05.027

Cited by 7 publications

(2 citation statements)

References 9 publications

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“…The term 'syndrome' and thus MCAS should be reserved for patients who demonstrably suffer from significant MCA-related events meeting MCAS criteria. There are also conditions that predispose individuals to MCA events and thus to MCAS, including hereditary alpha tryptasemia (HAT) and/or systemic mastocytosis (SM), which also can result in more severe IgE-dependent reactions, particularly to insect venoms (Supplemental Table S2) [21][22][23][40][41][42][43][44][45][46][47][48]. In SM, these patients may be labeled with the appendix SY (symptomatic) when they require continuous interventional treatment with MC stabilizers or mediator-targeting drugs, even if no MCAS is diagnosed [21].…”

Section: Diagnostic Consensus Criteria Of Mcasmentioning

confidence: 99%

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Valent

Akin

Nedoszytko

et al. 2020

IJMS

120

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Mast cell activation (MCA) is seen in a variety of clinical contexts and pathologies, including IgE-dependent allergic inflammation, other immunologic and inflammatory reactions, primary mast cell (MC) disorders, and hereditary alpha tryptasemia (HAT). MCA-related symptoms range from mild to severe to life-threatening. The severity of MCA-related symptoms depends on a number of factors, including genetic predisposition, the number and releasability of MCs, organs affected, and the type and consequences of comorbid conditions. In severe systemic reactions, MCA is demonstrable by a substantial increase of basal serum tryptase levels above the individual’s baseline. When, in addition, the symptoms are recurrent, involve more than one organ system, and are responsive to therapy with MC-stabilizing or mediator-targeting drugs, the consensus criteria for the diagnosis of MCA syndrome (MCAS) are met. Based on the etiology of MCA, patients can further be classified as having i) primary MCAS where KIT-mutated, clonal, MCs are detected; ii) secondary MCAS where an underlying IgE-dependent allergy or other reactive MCA-triggering pathology is found; or iii) idiopathic MCAS, where neither a triggering reactive state nor KIT-mutated MCs are identified. Most severe MCA events occur in combined forms of MCAS, where KIT-mutated MCs, IgE-dependent allergies and sometimes HAT are detected. These patients may suffer from life-threatening anaphylaxis and are candidates for combined treatment with various types of drugs, including IgE-blocking antibodies, anti-mediator-type drugs and MC-targeting therapy. In conclusion, detailed knowledge about the etiology, underlying pathologies and co-morbidities is important to establish the diagnosis and develop an optimal management plan for MCAS, following the principles of personalized medicine.

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Section: Diagnostic Consensus Criteria Of Mcasmentioning

confidence: 99%

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Valent

Akin

Nedoszytko

et al. 2020

IJMS

120

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“…Conversely, most adults presenting with MIS have SM, and thereby, they should undergo BM examination 2 . By contrast, only a small fraction (<10%) of adults presenting with an MC activation syndrome (MCAS) without skin lesions show BM involvement by clonal MC and SM—for example, typically BM mastocytosis (BMM) 9 . For those latter cases, diagnostic algorithms such as the REMA (Spanish Network on Mastocytosis) 10 and NICAS (National Institute for Health and Care Excellence) 11 scores have been proposed to identify patients at higher risk of SM who should undergo BM analysis. In line with recent recommendations by the ECNM‐AIM (EU‐USA) 12,13 consortium, in the NICAS score, demonstration of a somatic mutation in codon 816 of the stem cell growth factor receptor gene ( KIT D816V) in whole blood genomic DNA (gDNA) has been proposed as a strong predictor for BM involvement and SM 14–16 …”

Section: Introductionmentioning

confidence: 99%

KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes

Navarro-Navarro

Álvarez‐Twose

Pérez-Pons

et al. 2022

Allergy

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Predictors of Clonality and Underlying Mastocytosis in Mast Cell Activation Syndromes

Gonzalez-de-Olano,

Álvarez-Twose

2024

Curr Allergy Asthma Rep

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Frequency of clonal mast cell diseases among patients presenting with anaphylaxis: A prospective study in 178 patients from 5 tertiary centers in Spain

Cited by 7 publications

References 9 publications

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes

Predictors of Clonality and Underlying Mastocytosis in Mast Cell Activation Syndromes

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