Mastocytosis: The puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease
Open accessAbstract
Mastocytosis is a complex disorder characterized by the accumulation of abnormal mast cells (MC) in the skin, bone marrow and/or other visceral organs. The clinical manifestations result from MC-derived mediators and, less frequently, from destructive infiltration of MCs. Patients suffer from a variety of symptoms including pruritus, flushing and life-threatening anaphylaxis. Whilst mastocytosis is likely to be suspected in a patient with typical skin lesions [i.e. urticaria pigmentosa (UP)], the absence of cutaneous signs does not rule out the diagnosis of this disease. Mastocytosis should be suspected in cases of recurrent, unexplained or severe insect-induced anaphylaxis or symptoms of MC degranulation without true allergy. In rare cases, unexplained osteoporosis or unexplained haematological abnormalities can be underlying feature of mastocytosis, particularly when these conditions are associated with elevated baseline serum tryptase levels. The diagnosis is based on the World Health Organization criteria, in which the tryptase level, histopathological and immunophenotypic evaluation of MCs and molecular analysis are crucial. A somatic KIT mutation, the most common of which is D816V, is usually detectable in MCs and their progenitors. Once a diagnosis of systemic mastocytosis (SM) is made, it is mandatory to assess the burden of the disease, its activity, subtype and prognosis, and the appropriate therapy. Mastocytosis comprises seven different categories that range from indolent forms, such as cutaneous and indolent SM, to progressive forms, such as aggressive SM and MC leukaemia. Although prognosis is good in patients with indolent forms of the disease, patients with advanced categories have a poor prognosis.
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Mastocytosis was diagnosed using current World Health Organization criteria.
“A diagnosis of mastocytosis was obtained using current World Health Organization criteria.17,18”
From Low Prevalence of Idiopathic Mast Cell Activation Syndrome Among 703 Patients With Suspected Mast Cell Disorders (2024) · cites this paper as [17]
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Jensen, B., Broesby‐Olsen, S., Bindslev‐Jensen, C., & Nielsen, D. S. (2018) · Journal of Clinical Nursing · doi:10.1111/jocn.14676 · Cited by 25 · see citing works
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Self-citationGülen, T., Teufelberger, A. R., Ekoff, M., Westerberg, C. M., Lyberg, K., Dahlén, S., Dahlén, B., & Nilsson, G. P. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.02.023 · Cited by 21 · see citing works
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Non-hematologic diagnosis of systemic mastocytosis: Collaboration of radiology and pathology
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Drug-Induced Anaphylaxis Uncommon in Mastocytosis: Findings From Two Large Cohorts
Beyens, M. M. J., Sabato, V., Ebo, D. G., Zaghmout, T., & Gülen, T. (2024) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2024.03.040 · Cited by 15 · see citing works
Self-citationManagement of Mediator Symptoms, Allergy, and Anaphylaxis in Mastocytosis
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Perioperative anaphylaxis to fibrin sealants in children with Noonan Syndrome
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Modeling myeloproliferative neoplasms: From mutations to mouse models and back again
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Bone fragility in patients affected by congenital diseases non skeletal in origin
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Jarkvist, J., & Gülen, T. (2023) · Diagnostics · doi:10.3390/diagnostics13132241 · Cited by 11 · see citing works
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SYSTEMIC MASTOCYTOSIS: RADIOLOGICAL POINT OF VIEW
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Falcone, D., Uzunbajakava, N. E., Richters, R. J. H., van de Kerkhof, P. C. M., & van Erp, P. E. J. (2017) · Skin Pharmacology and Physiology · doi:10.1159/000477416 · Cited by 8 · see citing works
Multiple vertebral fractures as the first manifestation of systemic mastocytosis
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The Mastocytosis Control Test: A Patient-Reported Outcome Measure Assessing Disease Control
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Levedahl, K. H., Nilsson, A. K., Ungerstedt, J. S., & Hedström, M. (2022) · European Journal of Oncology Nursing · doi:10.1016/j.ejon.2022.102172 · Cited by 5 · see citing works
Levedahl, K. H., Nilsson, A. K., Johansson, B., & Hedström, M. (2022) · Primary Health Care Research & Development · doi:10.1017/s146342362200024x · Cited by 4 · see citing works
Exploration biologique des mastocytoses et des syndromes d’activation mastocytaire
Brun, M., Sarrat, A., & Vitte, J. (2017) · Revue française d'allergologie · doi:10.1016/j.reval.2017.08.008 · Cited by 4 · see citing works
Abdelghany, M., Shah, S., Subedi, R., & Kozman, H. (2017) · International Journal of Cardiology · doi:10.1016/j.ijcard.2017.04.008 · Cited by 4 · see citing works
Pre-emptive Evaluation of Venom Allergy in a Patient with Systemic Mastocytosis
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Self-citationMastocytosis in practice of a family doctors
Frolova, T. I., Tereshchenkova, I. I., & Стенкова, Н. Ф. (2018) · Shidnoevropejskij zurnal vnutrisnoi ta simejnoi medicini · doi:10.15407/internalmed2018.01.022 · Cited by 3 · see citing works
Gülen, T., Elberink, J. N. G. O., & Brockow, K. (2019) · Springer eBooks · doi:10.1007/978-3-030-27820-5_9 · Cited by 2 · see citing works
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Ivashkiv, B. B., Mysak, A. R., & Прицак, В. В. (2020) · Науковий вісник Львівського національного університету ветеринарної медицини та біотехнологій імені С.З. Ґжицького · doi:10.32718/nvlvet9825 · Cited by 2 · see citing works
Delayed diagnosis of adult-onset mastocytosis
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Gastrointestinal symptoms in children with mastocytosis
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Cutaneous mastocytosis: diagnostic challenges and dietary influences
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Cubero, C. C., & Carmona, E. C. (2016) · Reumatología Clínica · doi:10.1016/j.reuma.2016.02.006
Regulation of mast cell function and survival in health and disease
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Multiple Vertebral Fractures in Young Man as First Manifestation of Systemic Mastocytosis
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Mast Cell Disorders and Anaphylaxis
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A Diffuse Papular Rash in an Adult
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Mast Cell Disorders and Anaphylaxis
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Systemic mastocytosis in Croatia
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Comprehensive Review of Mastocytosis From Pathophysiology to Management Strategies
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Plasma Protein Profiling to Discern Indolent from Advanced Systemic Mastocytosis
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Skin manifestations in perioperative hypersensitivity: state of the art
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Advances in the Management of Mediator-Related Symptoms in Non-Advanced Systemic Mastocytosis
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- Authors
- Gülen, T., Hägglund, H., Dahlén, B., & Nilsson, G.
- Affiliations
- Karolinska University Hospital (SE)
- Uppsala University Hospital (SE)
- Corresponding author
- Gülen, T.
- Venue
- Journal of Internal Medicine
- Publisher
- Wiley
- Published
- 2015-09-08
- Volume
- 279
- Issue
- 3
- Pages
- 211-228
- ISSN
- 0954-6820 (ISSN-L)
- 1365-2796
- OpenAlex
- W1890209732
- Cited by
- 75
- References
- 178
- Citations by year
- 2026: 6 · 2025: 4 · 2024: 11 · 2023: 8 · 2022: 10 · 2021: 8 · 2020: 4 · 2019: 6 · 2018: 4 · 2017: 10 · 2016: 4
- FWCI
- 0.57
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Internal Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Vetenskapsrådet
- Cancerfonden
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
- Health Sciences › Medicine › Rheumatology › Eosinophilic Disorders and Syndromes
- Keywords
- mastocytosis, systemic mastocytosis, urticaria pigmentosa, mast cell degranulation, anaphylaxis, tryptase, KIT D816V mutation, mast cell infiltration, WHO classification, prognosis, diagnosis
- MeSH terms
- Diagnosis, Differential, Humans, Mastocytosis
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