Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM

Álvarez‐Twose, Iván; Zanotti, Roberta; González-de-Olano, David; Bonadonna, Patrizia; Vega, Arantza; Matito, Almudena; Sánchez‐Muñoz, Laura; Morgado, José Mário; Perbellini, Omar; García‐Montero, Andrés C.; Matteis, Giovanna De; Teodósio, Cristina; Rossini, Maurizio; Jara‐Acevedo, María; Schena, Donatella; Mayado, Andrea; Zamò, Alberto; Mollejo, Manuela; Sánchez-López, Paula; Cabañes, Nieves; Órfão, Alberto; Escribano, Luís

doi:10.1016/j.jaci.2013.06.020

Cited by 120 publications

(99 citation statements)

References 46 publications

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“…In both series, the majority of the anaphylactic episodes in mastocytosis were classified as idiopathic, non-IgE mediated, and/or triggered by hymenoptera sting, as also described by others [14,20].…”

Section: Diagnosis and Classificationsupporting

confidence: 63%

Anaphylaxis as a Manifestation of Systemic Mastocytosis: A Case Report and Review of Literature

Haddad¹,

Joukhadar²,

Chehata³

et al. 2017

J Clin Case Rep

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Introduction: Anaphylaxis is defined as "a serious, life-threatening generalized or systemic hypersensitivity reaction" and "a serious allergic reaction that is rapid in onset and might cause death". The determination of different mast cells (MC) mediators, such as serum and/or plasma histamine and tryptase, is proposed for the diagnosis of anaphylaxis. There are differences in the clinical presentation of anaphylaxis in patients with indolent systemic mastocytosis versus idiopathic anaphylaxis.

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Section: Diagnosis and Classificationsupporting

confidence: 63%

Anaphylaxis as a Manifestation of Systemic Mastocytosis: A Case Report and Review of Literature

Haddad¹,

Joukhadar²,

Chehata³

et al. 2017

J Clin Case Rep

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“…In the entire cohort, 56.3% were male, mostly represented in ISMs-(70%; P < 0.001 compared with all other subtypes), as reported [5,16]. Median age at diagnosis was 50 years (range 18-82); it was significantly lower (45 years) in the ISMs1 group compared with ISMs-, ASM and AHNMD (P < 0.001 for all comparisons), while SSM patients at diagnosis were older than ISM patients (P 5 0.003).…”

Section: Clinical Presentationmentioning

confidence: 65%

“…a Data for ISMs1, ISMs-and SSM were considered as an unique group (ISM) for comparison with aggressive subtypes, but they were also reported independently due to previously described different features of ISMs- [16].…”

Section: Research Articlementioning

confidence: 99%

Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients

et al. 2016

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Systemic mastocytosis is a rare heterogeneous myeloproliferative neoplasm characterized by abnormal proliferation and activation of mast cells. We describe a large multicentre series of 460 adult patients with systemic mastocytosis, with a diagnosis based on WHO 2008 criteria, in a "real-life" setting of ten Italian centers with dedicated multidisciplinary programs. We included indolent forms with (n 5 255) and without (n 5 165) skin lesions, smouldering (n 5 20), aggressive (n 5 28), associated with other hematological diseases mastocytosis (n 5 21) and mast cell leukemia (n 5 1). This series was uniquely characterized by a substantial proportion of patients with low burden of neoplastic mast cells; notably, 38% of cases were diagnosed using only minor diagnostic criteria according to WHO 2008 classification, underlying the feasibility of early diagnosis where all diagnostic approaches are made available. This has particular clinical relevance for prevention of anaphylaxis manifestations, that were typically associated with indolent forms. In multivariate analysis, the most important features associated with shortened overall survival were disease subtype and age at diagnosis >60 years. Disease progression was correlated with mastocytosis subtype and thrombocytopenia. As many as 32% of patients with aggressive mastocytosis suffered from early evolution into acute leukemia. Overall, this study provides novel information about diagnostic approaches and current presentation of patients with SM and underlines the importance of networks and specialized centers to facilitate early diagnosis and prevent disease-associated manifestations.

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“…The recently established REMA score is a helpful tool that can assist in defining clinical patterns and constellations suggesting the presence of SM with sufficient precision and sensitivity, which in turn may justify a BM investigation (32). As mentioned, insect venom-induced anaphylaxis may be recorded in patients with SM without MIS (35,36). Therefore, a BM examination is often recommended in these patients independent of the basal tryptase level, because a diagnosis of ISM or monoclonal MCAS modifies the insect venom immunotherapy, which should then (in case of ISM or MCAS) be lifelong (18,20,23).…”

Section: Patients With Increased Tryptase Levels But No Evidence Of Mismentioning

confidence: 99%

Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis

Valent

Escribano

Broesby‐Olsen

et al. 2014

Allergy

156

159

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Mastocytosis is an emerging differential diagnosis in patients with more or less specific mediator-related symptoms. In some of these patients, typical skin lesions are found and the diagnosis of mastocytosis can be established. In other cases, however, skin lesions are absent, which represents a diagnostic challenge. In the light of this unmet need, we developed a diagnostic algorithm for patients with suspected mastocytosis. In adult patients with typical lesions of mastocytosis in the skin, a bone marrow (BM) biopsy should be considered, regardless of the basal serum tryptase concentration. In adults without skin lesions who suffer from mediator-related or other typical symptoms, the basal tryptase level is an important parameter. In those with a slightly increased tryptase level, additional investigations, including a sensitive KIT mutation analysis of blood leucocytes or measurement of urinary histamine metabolites, may be helpful. In adult patients in whom (i) KIT D816V is detected and/or (ii) the basal serum tryptase level is clearly increased (>25-30 ng/ ml) and/or (iii) other clinical or laboratory features suggest the presence of 'occult' mastocytosis or another haematologic neoplasm, a BM investigation is recommended. In the absence of KIT D816V and other signs or symptoms of mastocytosis

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Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM

Cited by 120 publications

References 46 publications

Anaphylaxis as a Manifestation of Systemic Mastocytosis: A Case Report and Review of Literature

Anaphylaxis as a Manifestation of Systemic Mastocytosis: A Case Report and Review of Literature

Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients

Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis

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