The diagnostic workup for systemic mastocytosis differs from consensus recommendations: results of a worldwide survey
Open accessAbstract
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 (GA 2 LEN), 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.
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Most cases of ISM present a clinical picture dominated by mediator-related symptoms, including cutaneous, gastrointestinal, musculoskeletal, and neurocognitive manifestations.
“Conversely, most cases of ISM present a clinical picture dominated by mediator-related symptoms, including cutaneous, gastrointestinal, musculoskeletal, and neurocognitive manifestations (54–56).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [54]
The Introduction describes mastocytosis affecting the skin, musculoskeletal system, and gastrointestinal tract, and the Results identify skin lesions and gastrointestinal symptoms as reasons physicians suspect mastocytosis. But these passages concern mastocytosis generally and diagnostic suspicion; they do not establish that most ISM cases are dominated by mediator-related symptoms or document neurocognitive manifestations. (LLM, conf=0.80)
Experimental — accuracy not yet measuredIn cases with less specific manifestations (gastrointestinal symptoms, fatigue, neurologic/neuropsychiatric manifestations), recommendations for testing BST are not standardized.
“In all these cases, the recommendations for testing BST are not standardized (53–55, 65).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [54]
The Results sections report that gastrointestinal symptoms less often prompted suspicion of mastocytosis and that 90.9% of surveyed physicians included serum baseline tryptase in their diagnostic workup. The Discussion describes differences between physicians’ workups and consensus recommendations, but no passage found addresses whether recommendations for testing tryptase in patients with gastrointestinal, fatigue, or neurologic symptoms are standardized. (LLM, conf=0.74)
Experimental — accuracy not yet measured
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Crupi, F., Caroprese, J., & Mannelli, F. (2025) · Frontiers in Allergy · doi:10.3389/falgy.2025.1592001 · Cited by 2 · see citing works
- Authors
- Pyatilova, P., Bernstein, J. A., Aulenbacher, F., Borges, M. S., Dimitrijević, S., Hoehn, G., Maurer, M., Kolkhir, P., & Siebenhaar, F.
- Affiliations
- Humboldt-Universität zu Berlin (DE)
- University of Cincinnati (US)
- Blueprint Medicines (United States) (US)
- Corresponding author
- Siebenhaar, Frank
- ORCID
- Venue
- World Allergy Organization Journal
- Publisher
- Elsevier BV
- Published
- 2023-11
- Volume
- 16
- Issue
- 11
- Pages
- 100838
- ISSN
- 1939-4551 (ISSN-L)
- PMC
- PMC10661596
- OpenAlex
- W4388496723
- Cited by
- 9
- References
- 31
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 3
- FWCI
- 0.99
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- World Allergy Organization Journal (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Fraunhofer-Publica (Fraunhofer-Gesellschaft) (submittedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Immunology and Allergy › Food Allergy and Anaphylaxis Research
- Health Sciences › Medicine › Rheumatology › Eosinophilic Disorders and Syndromes
- Keywords
- systemic mastocytosis, diagnostic workup, clinical practice patterns, WHO diagnostic criteria, serum tryptase, bone marrow biopsy, KIT D816V mutation, anaphylaxis, physician survey
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