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World J Hematol. Feb 6, 2014; 3(1): 1-17
Published online Feb 6, 2014. doi: 10.5315/wjh.v3.i1.1
A concise, practical guide to diagnostic assessment for mast cell activation disease
Lawrence B Afrin, Gerhard J Molderings
Lawrence B Afrin, Division of Hematology/Oncology, Medical University of South Carolina, Charleston, SC 29425-6350, United States
Gerhard J Molderings, Institute of Human Genetics, University Hospital of Bonn, D-53127 Bonn, Germany
Author contributions: Afrin LB wrote the initial draft; Afrin LB and Molderings GJ contributed equally to the final revision processes; and Molderings GJ subsequent edits.
Correspondence to: Lawrence B Afrin, MD, BSB103, MSC635, Division of Hematology/Oncology, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425-6350, United States.
Telephone: +1-843-7924271 Fax: +1-843-7920644
Received: September 5, 2013
Revised: October 6, 2013
Accepted: November 15, 2013
Published online: February 6, 2014
Core Tip

Core tip: Mast cell activation disease (MCAD) is 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. Recent data suggest a high prevalence of MCAD. Thus, MCAD should be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity of a generally inflammatory theme or patients in whom established diagnoses do not well account for the patient’s presentation of symptoms consistent with mast cell mediator release. Mediator testing can be challenging but typically is manageable. Diagnostic efforts are worthwhile, as diagnosis often leads to effective therapy.