Diagnosis, management, and monitoring of interleukin-1 mediated diseases in Central and Eastern Europe: real-world data
Jazyk angličtina Země Velká Británie, Anglie Médium electronic
Typ dokumentu časopisecké články
Grantová podpora
Project ID No 739543
This research received no external funding. The APC is funded by the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases - Project ID No 739543.
PubMed
40405263
PubMed Central
PMC12100914
DOI
10.1186/s12969-025-01105-3
PII: 10.1186/s12969-025-01105-3
Knihovny.cz E-zdroje
- Klíčová slova
- Autoinflammatory diseases, Diagnosis, Interleukin-1 mediated diseases, Monitoring, Patient-reported outcomes, Transition, Treatment,
- MeSH
- dědičné zánětlivé autoimunitní nemoci * diagnóza terapie farmakoterapie epidemiologie MeSH
- interleukin-1 * antagonisté a inhibitory MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa epidemiologie MeSH
- východní Evropa epidemiologie MeSH
- Názvy látek
- canakinumab MeSH Prohlížeč
- humanizované monoklonální protilátky MeSH
- interleukin-1 * MeSH
BACKGROUND: Global healthcare disparities, stemming from organizational differences in healthcare systems, lead to variable availability and funding, resulting in a gap between recommended and implemented practices for interleukin (IL)-1-mediated autoinflammatory diseases. We aimed to assess diagnostic, treatment and follow-up options for these diseases in Central and Eastern European countries, comparing them with the 2021 recommendations of the European Alliance of Associations for Rheumatology (EULAR)/American College of Rheumatology (ACR). METHODS: In 2023, a structured collaborative effort was organized with representatives from 10 Central and Eastern European countries to address autoinflammatory diseases. The discussion focused on potential strategies to achieve the goals mentioned above. RESULTS: Almost all the participating countries have specialized centers for the diagnosis and treatment of autoinflammatory diseases and the care is provided either by rheumatologists and/or clinical immunologists. Genetic testing is available in all countries, but there is variation in the types of tests offered. Massive parallel sequencing panels for autoinflammatory diseases are available in all countries, with waiting periods for results ranging from 3 to 6 months in most cases. The availability of disease-specific laboratory assessments, such as S100 proteins, is limited. IL-1 inhibitors are available in all countries, but there are differences in practices regarding the licensing and reimbursement of anakinra and canakinumab based on specific indications or diagnoses. The age at which the transition process begins varies, but in most countries, it typically starts around the age of 18 or beyond and in majority of the participating countries there is no structured transition program. CONCLUSIONS: Adherence to the 2021 EULAR/ACR recommendations for IL-1-mediated autoinflammatory diseases is achievable in Central and Eastern European countries. Determining the prevalence and incidence of these diseases in this region remains a persistent challenge for future research efforts, with the overarching goal of identifying new patients with autoinflammatory diseases.
Department of Immunology Children's Memorial Health Institute Warsaw Poland
Department of Pediatrics Riga Stradins University Riga Latvia
Pediatric Rheumatology Unit Schneider Children's Medical Center of Israel Petach Tikva Israel
Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
Unit of Rheumatology and Autoinflammatory Diseases IRCCS Istituto G Gaslini Genova Italy
University of Nis Faculty of Medicine University Clinical Center Clinic of Pediatrics Nis Serbia
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McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133–44. PubMed
Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded, a clinical perspective. Cell. 2010;140:784–90. PubMed PMC
Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist. Ann Rheum Dis. 2022;81:907–21. PubMed
Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75:644–51. PubMed
Hoffman HM, Wolfe F, Belomestnov P, et al. Cryopyrin-associated periodic syndromes: development of a patient-reported outcomes instrument to assess the pattern and severity of clinical disease activity. Curr Med Res Opin. 2008;24:2531–43. PubMed
Piram M, Koné-Paut I, Lachmann HJ, et al. Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes. Ann Rheum Dis. 2014;73:2168–73. PubMed PMC
De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018;378:1908–19. PubMed
Ter Haar NM, Annink KV, Al-Mayouf SM, et al. Development of the autoinflammatory disease damage index (ADDI). Ann Rheum Dis. 2017;76:821–30. PubMed
Manta AG, Badareu G, Florea IA, Staicu AL, Lepădat CVM. How Much Financial Development Accentuates Income Inequality in Central and Eastern European Countries? Sustainability. 2023;15(18):13942.
Centre for Europe Warsaw University. Central and Eastern Europe 30 Years of Capitalism 1989–2019. Available online: https://china-cee.eu/2020/12/21/central-and-eastern-europe-30-years-of-capitalism-1989-2019/ (accessed on 23 July 2023).
Thomson S, Evetovits T, Kluge H. Universal health coverage and the economic crisis in Europe. Eurohealth. 2016;22:18.
Tambor M, Klich J, Domagała A. Financing Healthcare in Central and Eastern European Countries: How Far Are We from Universal Health Coverage? Int J Environ Res Public Health. 2021;18:1382. PubMed PMC
Wittkowski H, Kuemmerle-Deschner JB, Austermann J, et al. MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2011;70:2075–81. PubMed PMC
Meyts I, Bosch B, Bolze A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol. 2016;138:957–69. PubMed PMC
Rivera-Muñoz EA, Milko LV, Harrison SM, et al. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018;39:1614–22. PubMed PMC
Pai ALH, Ostendorf HM. Treatment adherence in adolescents and young adults affected by chronic illness during the health care transition From pediatric to adult health care: A literature review. Child Health Care. 2011;40:16–33.
Hausmann JS, O’Hare K. Improving the transition from pediatric to adult care for adolescents and young adults with autoinflammatory diseases. Auto-Inflammatory Syndromes: Springer; 2019. p. 249–59.
Nagra A, McGinnity PM, Davis N, Salmon AP. Implementing transition: ready steady go. Arch Dis Child Educ Pract Ed. 2015;100:313–20. PubMed PMC
Willis ER, McDonagh JE. Transition from children’s to adults’ services for young people using health or social care services (NICE Guideline NG43). Arch Dis Child Educ Pract Ed. 2018;103:253–6. PubMed
Toplak N, Dolezalovà P, Constantin T, et al. Eastern/Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project. Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey. Pediatr Rheumatol Online J. 2010;8:29. PubMed PMC
Ozen S, Frenkel J, Ruperto N, Gattorno M. The Eurofever project: towards better care for autoinflammatory diseases. Eur J Pediatr. 2011;170:445–52. PubMed