Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options
1 Institute of Human Genetics, University Hospital of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn, Germany
2 Department of Oncology, Hematology and Palliative Care, Kreiskrankenhaus Waldbröl, Dr.-Goldenburgen-Str. 10, D-51545 Waldbröl, Germany
3 Department of Internal Medicine, Evangelische Kliniken Bonn, Waldkrankenhaus, Waldstrasse 73, D-53177 Bonn, Germany
4 Division of Hematology/Oncology, Medical University of South Carolina, Charleston, South Carolina, USA
Journal of Hematology & Oncology 2011, 4:10 doi:10.1186/1756-8722-4-10Published: 22 March 2011
Mast cell activation disease comprises disorders characterized by accumulation of genetically altered mast cells and/or abnormal release of these cells' mediators, affecting functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing. In most cases of mast cell activation disease, diagnosis is possible by relatively non-invasive investigation. Effective therapy often consists simply of antihistamines and mast cell membrane-stabilising compounds supplemented with medications targeted at specific symptoms and complications. Mast cell activation disease is now appreciated to likely be considerably prevalent and thus should be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity or patients in whom a definitively diagnosed major illness does not well account for the entirety of the patient's presentation.