Epidemiology of mastocytosis: a population-based study (Sweden)
DOI:
https://doi.org/10.2340/1651-226X.2024.31406Keywords:
Mastocytosis, epidemiology, comorbidity, population-based, register, SwedenAbstract
Background: Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood.
Objective: To estimate the incidence, prevalence, overall survival (OS) and burden of comorbidities in adult mastocytosis patients identified in Swedish population-based registries.
Methods: Individuals (≥ 20 years of age) with a mastocytosis diagnosis in the National Patient Register (NPR) and/or the Swedish Cancer Register (SCR) between 2001 and 2018, were identified. In a matched cohort design, for each case five randomly selected mastocytosis-free comparators matched on age, sex, and county of residence were chosen from the Population Register. The Kaplan-Meier method was used to compare OS between individuals with mastocytosis and comparators. Information on concomitant disease at baseline was assessed by use of the Charlson Comorbidity Index (CCI).
Results: We identified 2,040 adults with a mastocytosis diagnosis yielding an annual incidence of 1.56 per 100,000 (95% CI 1.29–1.87) and a prevalence of 23.9 per 100,000 (95% CI 22.8–25.0). The comorbidity burden was higher, and the OS lower, in patients with mastocytosis compared to comparators.
Interpretation: We found a higher incidence and prevalence of mastocytosis compared to assessments in other settings and confirmed that the prognosis generally is favorable. Of special note was evidence of a higher comorbidity burden in mastocytosis patients compared to the background population.
Limitations: Underreporting and inconsistencies in the use of diagnostic codes.
Downloads
References
Valent P, Akin C, Hartmann K, et al. Updated diagnostic criteria and classification of mast cell disorders: a consensus proposal. HemaSphere. 2021;5:11. https://doi.org/10.1097/HS9.0000000000000646 DOI: https://doi.org/10.1097/HS9.0000000000000646
Metcalfe DD. Mast cells and mastocytosis. Blood. 2008;112:946–56. https://doi.org/10.1182/blood-2007-11-078097 DOI: https://doi.org/10.1182/blood-2007-11-078097
Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017;129:1420–7. https://doi.org/10.1182/blood-2016-09-731893 DOI: https://doi.org/10.1182/blood-2016-09-731893
Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization Classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19. https://doi.org/10.1038/s41375-022-01613-1 DOI: https://doi.org/10.1038/s41375-022-01613-1
Hartmann K, Escribano L, Grattan C, et al. Cutaneous manifestations in patients with mastocytosis: consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016;137:35–45. https://doi.org/10.1016/j.jaci.2015.08.034 DOI: https://doi.org/10.1016/j.jaci.2015.08.034
Valent P, Akin C, Escribano L, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37:435–53. https://doi.org/10.1111/j.1365-2362.2007.01807.x DOI: https://doi.org/10.1111/j.1365-2362.2007.01807.x
Berezowska S, Flaig MJ, Ruëff F, et al. Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis. Mod Pathol Off J U S Can Acad Pathol Inc. 2014; 27: 19–29. https://doi.org/10.1038/modpathol.2013.117 DOI: https://doi.org/10.1038/modpathol.2013.117
van Doormaal JJ, Arends S, Brunekreeft KL, van der Wal VB, et al. Prevalence of indolent systemic mastocytosis in a Dutch region. J Allergy Clin Immunol. 2013;131:1429–31. https://doi.org/10.1016/j.jaci.2012.10.015 DOI: https://doi.org/10.1016/j.jaci.2012.10.015
Cohen SS, Skovbo S, Vestergaard H, et al. Epidemiology of systemic mastocytosis in Denmark. Br J Haematol. 2014;166:521–8. https://doi.org/10.1111/bjh.12916 DOI: https://doi.org/10.1111/bjh.12916
Kibsgaard L, Deleuran M, Flohr C, Langan S, Braae Olesen A, Verstergaard C. How ‘benign’ is cutaneous mastocytosis? A Danish registry-based matched cohort study. Int J Womens Dermatol. 2020;6:294–300. https://doi.org/10.1016/j.ijwd.2020.05.013 DOI: https://doi.org/10.1016/j.ijwd.2020.05.013
Zanotti R, Bonifacio M, Isolan C, et al. A multidisciplinary diagnostic approach reveals a higher prevalence of indolent systemic mastocytosis: 15-years’ experience of the GISM network. Cancers. 2021;13:6380. https://doi.org/10.3390/cancers13246380 DOI: https://doi.org/10.3390/cancers13246380
Ungerstedt J, Ljung C, Klimkowska M, Gülen T. Clinical outcomes of adults with systemic mastocytosis: a 15-year multidisciplinary experience. Cancers. 2022;14:3942. https://doi.org/10.3390/cancers14163942 DOI: https://doi.org/10.3390/cancers14163942
Gülen T, Akin C. Anaphylaxis and mast cell disorders. Immunol Allergy Clin North Am. 2022;42:45–63. https://doi.org/10.1016/j.iac.2021.09.007 DOI: https://doi.org/10.1016/j.iac.2021.09.007
Greene LW, Asadipooya K, Corradi PF, Akin C. Endocrine manifestations of systemic mastocytosis in bone. Rev Endocr Metab Disord. 2016;17:419–31. https://doi.org/10.1007/s11154-016-9362-3 DOI: https://doi.org/10.1007/s11154-016-9362-3
Hägglund H, Sander B, Gülen T, Lindelöf B, Nilsson G. Increased risk of malignant melanoma in patients with systemic mastocytosis? Acta Derm Venereol. 2014; 94: 583–584. https://doi.org/10.2340/00015555-1788 DOI: https://doi.org/10.2340/00015555-1788
Broesby-Olsen S, Farkas DK, Vestergaard H, et al. Risk of solid cancer, cardiovascular disease, anaphylaxis, osteoporosis and fractures in patients with systemic mastocytosis: a nationwide population-based study. Am J Hematol. 2016;91:1069–75. https://doi.org/10.1002/ajh.24490 DOI: https://doi.org/10.1002/ajh.24490
Indhirajanti S, van Daele PLA, Bos S, Mulder MT, Bot I, Roeters van Lennep JE. Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels. Atherosclerosis. 2018;268:152–6. https://doi.org/10.1016/j.atherosclerosis.2017.11.030 DOI: https://doi.org/10.1016/j.atherosclerosis.2017.11.030
Charlson ME, Pompei P, Ales KL, MacKenzie CR. A new method of classifying prognostic comorbidity in longitudinal studies: development and validation. J Chronic Dis. 1987;40:373–83. https://doi.org/10.1016/0021-9681(87)90171-8 DOI: https://doi.org/10.1016/0021-9681(87)90171-8
Quan H, Li B, Couris CM, et al. Updating and validating the Charlson comorbidity index and score for risk adjustment in hospital discharge abstracts using data from 6 countries. Am J Epidemiol. 2011;173:676–82. https://doi.org/10.1093/aje/kwq433 DOI: https://doi.org/10.1093/aje/kwq433
Valent P, Hartmann K, Bonadonna P, et al. European Competence Network on Mastocytosis (ECNM): 20-year Jubilee, updates, and future perspectives. J Allergy Clin Immunol Pract. 2023;11(6):1706–1717. https://doi.org/10.1016/j.jaip.2023.02.021 DOI: https://doi.org/10.1016/j.jaip.2023.02.021
Lim K-H, Tefferi A, Lasho TL, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009; 113: 5727–36. https://doi.org/10.1182/blood-2009-02-205237 DOI: https://doi.org/10.1182/blood-2009-02-205237
Valent P, Akin C, Gleixner KV, et al. Multidisciplinary challenges in mastocytosis and how to address with personalized medicine approaches. Int J Mol Sci. 2019;20(12):2976. https://doi.org/10.3390/ijms20122976 DOI: https://doi.org/10.3390/ijms20122976
Broesby-Olsen S, Dybedal I, Gülen T, et al. Multidisciplinary management of mastocytosis: Nordic Expert Group consensus. Acta Derm Venereol. 2016;96:602–12. https://doi.org/10.2340/00015555-2325 DOI: https://doi.org/10.2340/00015555-2325
Additional Files
Published
How to Cite
License
Copyright (c) 2024 Anna Bergström, Hans Hägglund, Anders Berglund, Gunnar Nilsson, Mats Lambe
This work is licensed under a Creative Commons Attribution 4.0 International License.
