Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-11-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/21/23/9030 |
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| author | Peter Valent Cem Akin Boguslaw Nedoszytko Patrizia Bonadonna Karin Hartmann Marek Niedoszytko Knut Brockow Frank Siebenhaar Massimo Triggiani Michel Arock Jan Romantowski Aleksandra Górska Lawrence B. Schwartz Dean D. Metcalfe |
| author_facet | Peter Valent Cem Akin Boguslaw Nedoszytko Patrizia Bonadonna Karin Hartmann Marek Niedoszytko Knut Brockow Frank Siebenhaar Massimo Triggiani Michel Arock Jan Romantowski Aleksandra Górska Lawrence B. Schwartz Dean D. Metcalfe |
| author_sort | Peter Valent |
| collection | DOAJ |
| description | 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 <i>KIT</i>-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 <i>KIT</i>-mutated MCs are identified. Most severe MCA events occur in combined forms of MCAS, where <i>KIT</i>-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. |
| first_indexed | 2024-03-10T14:30:12Z |
| format | Article |
| id | doaj.art-0ee96c2cf07d4db3926fdc3928a4a09b |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T14:30:12Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-0ee96c2cf07d4db3926fdc3928a4a09b2023-11-20T22:39:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-11-012123903010.3390/ijms21239030Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized MedicinePeter Valent0Cem Akin1Boguslaw Nedoszytko2Patrizia Bonadonna3Karin Hartmann4Marek Niedoszytko5Knut Brockow6Frank Siebenhaar7Massimo Triggiani8Michel Arock9Jan Romantowski10Aleksandra Górska11Lawrence B. Schwartz12Dean D. Metcalfe13Department of Internal Medicine I, Division of Hematology and Hemostaseology and Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, AustriaDivision of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, MI 48106, USADepartment of Dermatology, Medical University of Gdansk, 80-211 Gdansk, PolandAllergy Unit, Verona University Hospital, 37126 Verona, ItalyDivision of Allergy, University Hospital Basel and University of Basel, 4031 Basel, SwitzerlandDepartment of Allergology, Medical University of Gdansk, 80-211 Gdansk, PolandDepartment of Dermatology and Allergy Biederstein, Technical University of Munich, D-80802 Munich, GermanyDermatological Allergology, Department of Dermatology and Allergy, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, GermanyDivision of Allergy and Clinical Immunology, University of Salerno, 84131 Salerno, ItalyDepartment of Hematological Biology, Pitié-Salpêtrière Hospital, Pierre et Marie Curie University (UPMC), 75005 Paris, FranceDepartment of Allergology, Medical University of Gdansk, 80-211 Gdansk, PolandDepartment of Allergology, Medical University of Gdansk, 80-211 Gdansk, PolandDepartment of Internal Medicine, Division of Rheumatology, Allergy & Immunology, Virginia Commonwealth University, Richmond, VA 23284, USALaboratory of Allergic Diseases, NIAID, NIH, Bethesda, MD 20852, USAMast 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 <i>KIT</i>-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 <i>KIT</i>-mutated MCs are identified. Most severe MCA events occur in combined forms of MCAS, where <i>KIT</i>-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.https://www.mdpi.com/1422-0067/21/23/9030Mast cell activation syndromeHereditary alpha tryptasemiaMastocytosisIgE |
| spellingShingle | Peter Valent Cem Akin Boguslaw Nedoszytko Patrizia Bonadonna Karin Hartmann Marek Niedoszytko Knut Brockow Frank Siebenhaar Massimo Triggiani Michel Arock Jan Romantowski Aleksandra Górska Lawrence B. Schwartz Dean D. Metcalfe Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine International Journal of Molecular Sciences Mast cell activation syndrome Hereditary alpha tryptasemia Mastocytosis IgE |
| title | Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine |
| title_full | Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine |
| title_fullStr | Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine |
| title_full_unstemmed | Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine |
| title_short | Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine |
| title_sort | diagnosis classification and management of mast cell activation syndromes mcas in the era of personalized medicine |
| topic | Mast cell activation syndrome Hereditary alpha tryptasemia Mastocytosis IgE |
| url | https://www.mdpi.com/1422-0067/21/23/9030 |
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