The diagnostic workup for systemic mastocytosis differs from consensus recommendations: Results of a worldwide survey

Polina Pyatilova; Jonathan A Bernstein; Felix Aulenbacher; Mario Sanchez Borges; Saša Dimitrijević; Gerard Hoehn; Marcus Maurer; Pavel Kolkhir; Frank Siebenhaar

doi:10.1016/j.waojou.2023.100838

The diagnostic workup for systemic mastocytosis differs from consensus recommendations: Results of a worldwide survey

World Allergy Organ J. 2023 Nov 8;16(11):100838. doi: 10.1016/j.waojou.2023.100838. eCollection 2023 Nov.

Authors

Polina Pyatilova^{1

2}, Jonathan A Bernstein³, Felix Aulenbacher^{1

2}, Mario Sanchez Borges⁴, Saša Dimitrijević⁵, Gerard Hoehn⁶, Marcus Maurer^{1

2}, Pavel Kolkhir^{1

2}, Frank Siebenhaar^{1

2}

Affiliations

¹ Institute of Allergology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
² Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Immunology and Allergology IA, Berlin, Germany.
³ Allergy Section, Division of Immunology, Department of Internal Medicine, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
⁴ Allergy and Clinical Immunology Department, Centro Médico Docente La Trinidad and Clinica El Ávila, Caracas, Venezuela.
⁵ Blueprint Medicines (Switzerland) GmbH, Zug, Switzerland.
⁶ Blueprint Medicines Corporation, Cambridge, MA, USA.

Abstract

Objective: Mastocytosis is a complex disorder affecting various organs. The diagnostic workup can be challenging and requires a multidisciplinary approach including the use of uncommon tests. To assess mastocytosis management around the globe, we conducted the first worldwide online survey for physicians.

Methods: A 21-item questionnaire was sent out to the members of the World Allergy Organization (WAO), the Global Allergy and Asthma European Network (GA²LEN), the Urticaria (UCARE) and Angioedema (ACARE) Centers of Reference and Excellence, the German Society of Allergology and Clinical Immunology (DGAKI), and the European Mast Cell and Basophil Research Network (EMBRN) in April-June 2021.

Results: Across 628 respondents from 79 countries 87.7% and 9.7% of physicians were allergists/clinical immunologists and/or dermatologists. Participating physicians were from all regions of the world (Europe, EU: 41.6%; North America, NA: 24.8%; Latin America, LA: 14.5%; Asia-Pacific, AP: 12.6%; and Africa/Middle East, AME: 6.5%). Only 2.2% of respondents worked at Specialized Mastocytosis Centers (SMCs) in North America or European Union. Physicians reported caring for 4 patients with mastocytosis per year, with higher numbers in European Union and Asia Pacific (5/year) compared to Latin America (2/year). Dermatologists and physicians who work at SMCs reported higher patient numbers (15/year and 80/year, respectively). Suspicion of mastocytosis in the allergology and dermatology community is commonly driven by anaphylaxis (82.9%), mastocytosis skin lesions (82.1%), or elevated tryptase levels (76.6%). Osteoporosis and gastrointestinal symptoms less often prompted suspicion of mastocytosis (21.4% and 49.9%, respectively). World Health Organisation (WHO)-diagnostic criteria and classification, regardless of the region, are only used by about 50% of physicians, with higher rates for SMCs (83.3%). Serum tryptase, bone marrow biopsy, and KIT D816V mutation analysis are included in the diagnostic workup by 90.9%, 61.5%, and 58.4% of physicians, respectively. The biggest challenges for the management of mastocytosis are the lack of more effective treatment options (51.1%), missing multidisciplinary networks (47.1%), and the lack of experience of specialists from other disciplines (39.0%).

Conclusions: The diagnostic workup for mastocytosis differs from consensus recommendations and varies between regions. This may be improved by establishing active multidisciplinary networks, increasing access to diagnostic procedures, consistently applying WHO criteria, and developing new Mastocytosis Centers of Reference and Excellence.

Keywords: Challenges; Management; Mastocytosis; Survey; Worldwide.