RESEARCH PAPERS – Diagnosis
Mast Cell Activation Syndrome: A Research Update
Kathleen Doheny (2023). This is a short informative article explaining the difference between clonal and non-clonal mast cell activation syndrome. It focuses on presentation of each and helpful investigations for a diagnosis. There are also useful links to scientific articles that go more in depth in the detail of the non-clonal form.
A Puzzling Mast Cell Trilogy: Anaphalaxis, MCAS, and Mastocytosis
Theo Gülen (2023). This article outlines the difficulties associated with diagnosing three interrelated conditions; anaphylaxis, MCAS, and mastocytosis. It outlines each in turn, to then discuss their overlap and clinical features of their presentation alongside other mast-cell related disorders. It concludes by calling for future research aimed at identifying new biomarkers to distinguish patients with each disorder and the treatment of patients in specialized centres due to the complexity of the conditions.
Increased Excretion of Mast Cell Mediator Metabolites During Mast Cell Activation Syndrome
Joseph H Butterfield (2023). This is a retrospective cohort study exploring biomarkers in MCAS diagnosis. While an increase in serum tryptase by 20% plus 2 ng/mL is required for an MCAS diagnosis, there is no agreement on what counts as significant rise in urinary metabolites such as prostaglandin D2, histamine, or leukotriene (which are also linked to MCAS episodes). The study finds that the measurements of all three urinary metabolites together is helpful for diagnosis.
Cluster-Analytic Identification of Clinically Meaningful Subtypes in MCAS: The Relevance of Heat and Cold
Tinus Häder, Gerhard J Molderings, Frank Klawonn, Rupert Conrad, Martin Mücke, Julia Sellin (2023). This study is the first to perform a cluster analysis of MCAS patients, classifying them into subgroups based on symptoms and triggers, which could help to personalize treatment and improve patient care. The study concludes that there is utility of a cluster analytic approach and the potential of association analysis to improve the understanding of MCAS subtypes and to personalize the therapy.
Learned cautions regarding antibody testing in mast cell activation syndrome
Lawrence B. Afrin, Tania T. Dempsey and Gerhard J. Molderings (2023). This article discusses the role and limitations of antibody testing in MCAS patients. As MCAS causes abnormal antibody production, it can mimic antibodies that can lead to diagnostic confusion and misdiagnosis of autoimmune or infectious diseases. The article suggests that healthcare professionals should exercise caution with positive antibody test results in MCAS patients. It states that the monitoring of clinical symptoms and repeated testing over time should be used to avoid misdiagnosis caused by misleading results.
KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes
Paula Navarro-Navarro, Iván Álvarez-Twose, Alba Pérez-Pons, Ana Henriques, Andrea Mayado, Andrés C. García-Montero, Laura Sánchez-Muñoz, Oscar González-López, Almudena Matito, Carolina Caldas, María Jara-Acevedo, Alberto Orfao (2022). This article discusses the potential utility of investigating KITD816V in genomic DNA to increase diagnostic sensitivity for MCAS. It states that, while KITD816V is a key marker for systemic mastocytosis, it is less detectable in blood for patients with low levels of the mutation, such as patients with c-MCAS. It suggests that tracking the KITD816V mutation over time could help identify patients at higher risk of disease progression.
Mast cell activation syndrome - anesthetic challenges in two different clinical scenarios
Brianna Lide, Shane McGuire, Hong Liu, Cristina Chandler (2022). This is a case report outlining two clinical scenarios of MCAS, aiming to identify possible factors triggering mast cell mediator release. It discusses diagnosis criteria, symptoms, triggers, treatment, premedication and anaphylaxis. It concludes that recognizing and managing MCAS with trigger avoidance and tailored treatment plans is essential for reducing morbidity and achieving optimal outcomes.
Idiopathic mast cell activation syndrome is more often suspected than diagnosed - A prospective real-life study
Thomas Buttgereit, Sophie Gu, Leonor Carneiro-Leão, Annika Gutsche, Marcus Maurer, Frank Siebenhaar (2022). This article details a prospective study of 100 patients with suspected idiopathic MCAS. It investigates the prevalence of diagnostic criteria including increased tryptase and response to MC-targeted treatment. It finds that only 2 of 79 patients had increased tryptase following an episode, and that depression and anxiety disorders were frequent comorbidities. It concludes that, as MCAS was confirmed in only 2% of patients, it is not MC activation that drives symptoms in most patients with suspected MCAS. It calls for further research on the pathogenesis of the disease.
Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal
Peter Valent, Cem Akin, Karin Hartmann, Ivan Alvarez-Twose, Knut Brockow, Olivier Hermine, Marek Niedoszytko, Juliana Schwaab, Jonathan J Lyons, Melody C Carter, Hanneke Oude Elberink, Joseph H Butterfield, Tracy I George, Georg Greiner, Celalettin Ustun, Patrizia Bonadonna, Karl Sotlar, Gunnar Nilsson, Mohamad Jawhar, Frank Siebenhaar, Sigurd Broesby-Olsen, Selim Yavuz, Roberta Zanotti, Magdalena Lange, Boguslaw Nedoszytko, Gregor Hoermann, Mariana Castells, Deepti H Radia, Javier I Muñoz-Gonzalez, Wolfgang R Sperr, Massimo Triggiani, Hanneke C Kluin-Nelemans, Stephen J Galli, Lawrence B Schwartz, Andreas Reiter, Alberto Orfao, Jason Gotlib, Michel Arock, Hans-Peter Horny, Dean D Metcalfe (2021). This article discusses Mastocytosis, and its classification into cutaneous, systemic, and MC sarcoma forms. It highlights the role of the KIT D816V mutation and other genetic markers in determining disease severity and prognosis. The article also proposes updated diagnostic criteria and a global classification system of MC disorders generally, including MCAS.
Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review
Theo Gülen, Cem Akin, Patrizia Bonadonna, Frank Siebenhaar, Sigurd Broesby-Olsen, Knut Brockow, Marek Niedoszytko, Boguslaw Nedoszytko, Hanneke N G Oude Elberink, Joseph H Butterfield, Wolfgang R Sperr, Ivan Alvarez-Twose, Hans-Peter Horny, Karl Sotlar, Juliana Schwaab, Mohamad Jawhar, Roberta Zanotti, Gunnar Nilsson, Jonathan J Lyons, Melody C Carter, Tracy I George, Olivier Hermine, Jason Gotlib, Alberto Orfao, Massimo Triggiani, Andreas Reiter, Karin Hartmann, Mariana Castells, Michel Arock, Lawrence B Schwartz, Dean D Metcalfe, Peter Valent (2021).
Mast Cell Activation Disorders
Giannetti A, Filice E, Caffarelli C, Ricci G, Pession A. Mast Cell Activation Disorders. Medicina (Kaunas). 2021;57(2):124. Published 2021 Jan 30. doi:10.3390/medicina57020124
Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review
Gülen T, Akin C, Bonadonna P, et al. Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review [published online ahead of print, 2021 Jun 22]. J Allergy Clin Immunol Pract. 2021;S2213-2198(21)00676-0. doi:10.1016/j.jaip.2021.06.011
A Challenge for Allergologist: Application of Allergy Diagnostic Methods in Mast Cell Disorders
Romantowski J, Górska A, Niedoszytko M, et al. A Challenge for Allergologist: Application of Allergy Diagnostic Methods in Mast Cell Disorders. Int J Mol Sci. 2021;22(3):1454. Published 2021 Feb 1. doi:10.3390/ijms22031454
Clinical Approach to Mast Cell Activation Syndromes: A Practical Overview
Matito A, Escribese MM, Longo N, et al. Clinical Approach to Mast Cell Activation Syndromes: A Practical Overview [published online ahead of print, 2021 Feb 4]. J Investig Allergol Clin Immunol. 2021;0. doi:10.18176/jiaci.0675
New developments in the field of mastocytosis and mast cell activation syndromes: a summary of the Annual Meeting of the European Competence Network on Mastocytosis (ECNM) 2019
Arock M, Sotlar K, Gotlib J, et al. New developments in the field of mastocytosis and mast cell activation syndromes: a summary of the Annual Meeting of the European Competence Network on Mastocytosis (ECNM) 2019. Leuk Lymphoma. 2020;61(5):1075-1083. doi:10.1080/10428194.2019.1703974
Mast Cell Activation: When the Whole Is Greater than the Sum of Its Parts
Khokhar D, Akin C. Mast Cell Activation: When the Whole Is Greater than the Sum of Its Parts. Med Clin North Am. 2020;104(1):177-187. doi:10.1016/j.mcna.2019.09.002
Mast cell activation syndromes - evaluation of current diagnostic criteria and laboratory tools in clinical practice (Review)
Leru PM, Anton VF, Ureche C, Zurac S, Bratu O, Neagoe CD. Mast cell activation syndromes - evaluation of current diagnostic criteria and laboratory tools in clinical practice (Review). Exp Ther Med. 2020;20(3):2348-2351. doi:10.3892/etm.2020.8947
Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine
Valent P, Akin C, Nedoszytko B, et al. Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine. Int J Mol Sci. 2020;21(23):9030. Published 2020 Nov 27. doi:10.3390/ijms21239030
How to diagnose mast cell activation syndrome: practical considerations
Romantowski J, Górska A, Lange M, Nedoszytko B, Gruchała-Niedoszytko M, Niedoszytko M. How to diagnose mast cell activation syndrome: practical considerations. Pol Arch Intern Med. 2020;130(4):317-323. doi:10.20452/pamw.15212
Expanding spectrum of mast cell activation disorders: monoclonal and idiopathic mast cell activation syndromes
Picard M, Giavina-Bianchi P, Mezzano V, Castells M. Expanding spectrum of mast cell activation disorders: monoclonal and idiopathic mast cell activation syndromes. Clin Ther. 2013;35(5):548-562. doi:10.1016/j.clinthera.2013.04.001
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