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Mast Cell Activation Disease

MedGen UID:
1779626
Concept ID:
C4272690
Disease or Syndrome
Synonyms: Mast Cell Activation Disorders; Mast Cell Disease; Mast Cell Diseases; Mast-Cell Disease; Mast-Cell Diseases

Definition

A spectrum of primary, secondary, and idiopathic disorders involving MAST CELLS and characterized by an aberrant release of mast cell mediators which result in multiple and variable inflammatory and allergic symptoms. These disorders are associated with various mutations in tyrosine kinase KIT (PROTO-ONCOGENE PROTEINS C-KIT) and other genes, underlying conditions, and responses to allergic or non-allergic triggers of mast cell stimulation and degranulation such as local anesthetics, lactam antibiotics, muscle relaxants, specific foods, environmental toxins, physical conditions such as vibration, cold, pressure, and stress. [from MeSH]

Professional guidelines

PubMed

Wirz S, Molderings GJ
Pain Physician 2017 Sep;20(6):E849-E861. PMID: 28934791
Molderings GJ, Haenisch B, Brettner S, Homann J, Menzen M, Dumoulin FL, Panse J, Butterfield J, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2016 Jul;389(7):671-94. Epub 2016 Apr 30 doi: 10.1007/s00210-016-1247-1. PMID: 27132234Free PMC Article
Broesby-Olsen S, Dybedal I, Gülen T, Kristensen TK, Møller MB, Ackermann L, Sääf M, Karlsson MA, Agertoft L, Brixen K, Hermann P, Stylianou E, Mortz CG, Torfing T, Havelund T, Sander B, Bergström A, Bendix M, Garvey LH, Bjerrum OW, Valent P, Bindslev-Jensen C, Nilsson G, Vestergaard H, Hägglund H
Acta Derm Venereol 2016 Jun 15;96(5):602-12. doi: 10.2340/00015555-2325. PMID: 26694951

Recent clinical studies

Etiology

Molderings GJ, Dumoulin FL, Homann J, Sido B, Textor J, Mücke M, Qagish GJ, Barion R, Raithel M, Klingmüller D, Schäfer VS, Hertfelder HJ, Berdel D, Tridente G, Weinstock LB, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2020 Sep;393(9):1573-1580. Epub 2020 May 6 doi: 10.1007/s00210-020-01886-2. PMID: 32377770Free PMC Article
Afrin LB, Self S, Menk J, Lazarchick J
Am J Med Sci 2017 Mar;353(3):207-215. Epub 2016 Dec 16 doi: 10.1016/j.amjms.2016.12.013. PMID: 28262205Free PMC Article
Molderings GJ, Haenisch B, Brettner S, Homann J, Menzen M, Dumoulin FL, Panse J, Butterfield J, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2016 Jul;389(7):671-94. Epub 2016 Apr 30 doi: 10.1007/s00210-016-1247-1. PMID: 27132234Free PMC Article
Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM
PLoS One 2013;8(9):e76241. Epub 2013 Sep 30 doi: 10.1371/journal.pone.0076241. PMID: 24098785Free PMC Article

Diagnosis

Afrin LB, Ackerley MB, Bluestein LS, Brewer JH, Brook JB, Buchanan AD, Cuni JR, Davey WP, Dempsey TT, Dorff SR, Dubravec MS, Guggenheim AG, Hindman KJ, Hoffman B, Kaufman DL, Kratzer SJ, Lee TM, Marantz MS, Maxwell AJ, McCann KK, McKee DL, Menk Otto L, Pace LA, Perkins DD, Radovsky L, Raleigh MS, Rapaport SA, Reinhold EJ, Renneker ML, Robinson WA, Roland AM, Rosenbloom ES, Rowe PC, Ruhoy IS, Saperstein DS, Schlosser DA, Schofield JR, Settle JE, Weinstock LB, Wengenroth M, Westaway M, Xi SC, Molderings GJ
Diagnosis (Berl) 2021 May 26;8(2):137-152. Epub 2020 Apr 22 doi: 10.1515/dx-2020-0005. PMID: 32324159
Afrin LB, Self S, Menk J, Lazarchick J
Am J Med Sci 2017 Mar;353(3):207-215. Epub 2016 Dec 16 doi: 10.1016/j.amjms.2016.12.013. PMID: 28262205Free PMC Article
Molderings GJ, Haenisch B, Brettner S, Homann J, Menzen M, Dumoulin FL, Panse J, Butterfield J, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2016 Jul;389(7):671-94. Epub 2016 Apr 30 doi: 10.1007/s00210-016-1247-1. PMID: 27132234Free PMC Article
Afrin LB, Butterfield JH, Raithel M, Molderings GJ
Ann Med 2016;48(3):190-201. Epub 2016 Mar 25 doi: 10.3109/07853890.2016.1161231. PMID: 27012973
Afrin LB, Khoruts A
Clin Ther 2015 May 1;37(5):941-53. Epub 2015 Mar 12 doi: 10.1016/j.clinthera.2015.02.008. PMID: 25773459

Therapy

Afrin LB, Dempsey TT, Molderings GJ
Diagnosis (Berl) 2023 Nov 1;10(4):424-431. Epub 2023 Aug 14 doi: 10.1515/dx-2023-0032. PMID: 37566881
Molderings GJ, Dumoulin FL, Homann J, Sido B, Textor J, Mücke M, Qagish GJ, Barion R, Raithel M, Klingmüller D, Schäfer VS, Hertfelder HJ, Berdel D, Tridente G, Weinstock LB, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2020 Sep;393(9):1573-1580. Epub 2020 May 6 doi: 10.1007/s00210-020-01886-2. PMID: 32377770Free PMC Article
Wirz S, Molderings GJ
Pain Physician 2017 Sep;20(6):E849-E861. PMID: 28934791
Molderings GJ, Haenisch B, Brettner S, Homann J, Menzen M, Dumoulin FL, Panse J, Butterfield J, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2016 Jul;389(7):671-94. Epub 2016 Apr 30 doi: 10.1007/s00210-016-1247-1. PMID: 27132234Free PMC Article
Molderings GJ, Brettner S, Homann J, Afrin LB
J Hematol Oncol 2011 Mar 22;4:10. doi: 10.1186/1756-8722-4-10. PMID: 21418662Free PMC Article

Prognosis

Afrin LB, Weinstock LB, Molderings GJ
Int J Infect Dis 2020 Nov;100:327-332. Epub 2020 Sep 10 doi: 10.1016/j.ijid.2020.09.016. PMID: 32920235Free PMC Article

Clinical prediction guides

Afrin LB, Dempsey TT, Molderings GJ
Diagnosis (Berl) 2023 Nov 1;10(4):424-431. Epub 2023 Aug 14 doi: 10.1515/dx-2023-0032. PMID: 37566881
Afrin LB, Weinstock LB, Molderings GJ
Int J Infect Dis 2020 Nov;100:327-332. Epub 2020 Sep 10 doi: 10.1016/j.ijid.2020.09.016. PMID: 32920235Free PMC Article
Molderings GJ, Dumoulin FL, Homann J, Sido B, Textor J, Mücke M, Qagish GJ, Barion R, Raithel M, Klingmüller D, Schäfer VS, Hertfelder HJ, Berdel D, Tridente G, Weinstock LB, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2020 Sep;393(9):1573-1580. Epub 2020 May 6 doi: 10.1007/s00210-020-01886-2. PMID: 32377770Free PMC Article
Haenisch B, Fröhlich H, Herms S, Molderings GJ
Immunogenetics 2014 May;66(5):287-97. Epub 2014 Mar 14 doi: 10.1007/s00251-014-0768-3. PMID: 24622794
Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM
PLoS One 2013;8(9):e76241. Epub 2013 Sep 30 doi: 10.1371/journal.pone.0076241. PMID: 24098785Free PMC Article

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