

Актуальные клинические аспекты семейной средиземноморской лихорадки
https://doi.org/10.33667/2078-5631-2023-31-8-14
Аннотация
Статья посвящена анализу современного состояния проблемы самого частого аутовоспалительного заболевания – семейной средиземноморской лихорадки (ССЛ). Авторами приведены данные по распространенности ССЛ, генетических механизмах ее развития, влияния мутаций гена MEFV на манифестацию ССЛ и ее клинические фенотипы. Обсуждается полиморфизм мутированного гена MEFV в различных этнических популяциях. Особое внимание уделено сочетанию ССЛ с другими ревматическими процессами, прежде всего со спондилоартритами. Показано, что иммуновоспалительная коморбидность характерна для раннего дебюта ССЛ, более тяжелого течения этого заболевания, и определяется спецификой генотипа пациента. В связи с этим подчеркивается важность генетического анализа не только для своевременной верификации ССЛ, но и для определения прогноза в плане риска развития спондилоартрита и амилоидоза. Анализ работ по фармакотерапии ССЛ, показал, что, хотя препаратом первой линии остается колхицин, в лечении пациентов с ССЛ активно применяются ингибиторы интерлейкина-1. Результаты мультицентровых исследований демонстрируют высокую эффективность и безопасность ингибитора интелейкина-1 канакинумаба в лечении ССЛ и других аутовоспалительных заболеваний у детей и взрослых. В связи с этим при развитии колхицин-резистентности или при плохой переносимости колхицина ингибиторы интерлейкина-1 рассматриваются как оптимальная терапевтическая опция.
Об авторах
А. Р. БабаеваРоссия
Бабаева Аида Руфатовна - д.м.н., проф., зав. кафедрой факультетской терапии.
Волгоград
Е. В. Калинина
Россия
Калинина Елена Валерьевна - к.м.н., доцент, доцент кафедры факультетской терапии.
Волгоград
Список литературы
1. Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum 2009; 16: 1447–1453.
2. S. Ozen et al. Familial Mediterranean fever (FMF) and beyond: A new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6–10 November 2005. Annals of the Rheumatic Diseases Jul 2006, 65 (7) 961–964. DOI: 10.1136/ard.2006.052688.
3. Федоров ЕС, Салугина СО, Кузьмина НН. Развитие учения об аутовоспалительных заболеваниях в XXI в. Научно-практическая ревматология. 2018; 56 (Прил. 4): 5–18.
4. Ozen S. Familial Mediterranean Fever: recent developments in pathogenesis and new recommendations for management. Frontiers in Immunology 2017; 8: 253.
5. Насонов ЕЛ, Елисеев МС. Роль интерлейкина 1 в развитии заболеваний человека. Научно-практическая ревматология. 2016; 54 (1): 60–77.
6. Ozen S. et al. EULAR recommendations for management of familial Mediterranean fever. Ann Rheum Dis 2016; 75: 644–651.
7. Federici S. et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015; 74: 799–805.
8. Gattorno M, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis 2019; 78: 1025–1032.
9. Giancane G et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Pediatr Rheumatol Online J. (2014) 12 (Suppl.1): 241.
10. A. Repa et al. Familial Mediterranean Fever (FMF): A Single Center Clinical-Genetic Study. Annals of the Rheumatic Diseases 2014,73 Suppl 309. DOI: 10.1136/annrheumdis-2014-eular.3363.
11. A. Tanatar et al. Familial mediterranean fever (fmf): a single centerexperience from Turkey. Annals of the Rheumatic Diseases Jun 2019, 78 (Suppl 2) 962. DOI: 10.1136/annrheumdis-2019-eular.6558ю
12. T. Ishizuka et al. Clinical features and analysis of MEFV gene in 31 patients with familial mediterranean fever (FMF). Annals of the Rheumatic Diseases Jun 2020, 79 (Suppl 1) 1787–1788; DOI: 10.1136/annrheumdis-2020-eular.1364.
13. F. Cosan, S. Arda, O. M. Gedar Totuk The frequency of exon-10 mutations in MEFV gene in ‘probable’ diagnosed FMF patients according to tel hashomer criteria. Annals of the Rheumatic Diseases Jun 2018, 77 (Suppl 2) 507; DOI: 10.1136/annrheumdis-2018-eular.7449.
14. S Yilmaz, E Tekgoz, FI Cinar, M Cinar The importance of R 202Q polymorphism in clinical expression of FMF: A single center cross-sectional study. Annals of the Rheumatic Diseases Jun 2017, 76 (Suppl 2) 412–413. DOI: 10.1136/annrheumdis-2017-eular.4294.
15. Demirkaya E, Erer B, Ozen S, et al. Efficacy and safety of treatments in Familial Mediterranean Fever: A systematic review. Rheumatol Int 2015. DOI: 10.1007.
16. Benedetti FD et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med 2018; 378: 1908–19.
17. T. Ishizuka et al. The association between clinical features and analysis of MEFV gene in 20 japanese patients with familial mediterranean fever (FMF). Annals of the Rheumatic Diseases. Jun 2019, 78 (Suppl 2) 1960; DOI: 10.1136/annrheumdis-2019-eular.1327.
18. O. Zhogova, U. Kaya Akca et al. Comparison of fmf clinical features between turkish and crimean tatar children. Annals of the Rheumatic Diseases. Jun 2021, 80 (Suppl 1) 930–931. DOI: 10.1136/annrheumdis-2021-eular.817
19. A. Giese et al. Familial mediterranean fever (FMF) – disease activity and quality of life in adult patients of turkish ancestry living in Turkey or Germany. Annals of the Rheumatic Diseases Jun 2013, 71 (Suppl 3) 284–285. DOI: 10.1136/annrheumdis-2012-eular.2347.
20. N.A. Ayaz et al. Are children and adults having different phenotype and genotype of FMF? Annals of the Rheumatic Diseases Jun 2019, 78 (Suppl 2) 553. DOI: 10.1136/annrheumdis-2019-eular.7202.
21. Okan Aydin, Serdal Ugurlu, Huri Ozdogan. Comparison of FMF patients with age of onset before 20 versus 40 years and over. Annals of the Rheumatic Diseases Jun 2019, 78 (Suppl 2) 586. DOI: 10.1136/annrheumdis-2019-eular.6560.
22. H. Babaoglu, et al. Annals of the Rheumatic Diseases Jun 2019, 78 (Suppl 2) 571–572. DOI: 10.1136/annrheumdis-2019-eular.4766.
23. M.E. Tezcan et al. The severity of FMF may be associated with co-morbidities. Annals of the Rheumatic Diseases Jun 2020, 79 (Suppl 1) 1227–1228. DOI: 10.1136/annrheumdis-2020-eular.801.
24. K. Ayar, E. K. Ozturk, O. Yesiloz. The association of common MEFV gene mutations with axial spondylarthritis in fmf patients: a retrospective study Annals of the Rheumatic Diseases Jun 2018, 77 (Suppl 2) 1677–1678. DOI: 10.1136/annrheumdis-2018-eular.6721.
25. Ummusen Kaya Akca et al. Comorbidities in in Familial Mediterranean fever. DOI: 10.1136/annrheumdis-2019-eular.1976.
26. H. Ozdogan, S. Ugurlu, B. Ergezen. The Pregnancy Outcomes in FMF Patients Who are Exposed to IL-1 Blockade with Anakinra Annals of the Rheumatic Diseases Jun 2015, 74 (Suppl 2) 400–401. DOI: 10.1136/annrheumdis-2015-eular.5788.
27. S. Yildrim et al. Is there increase in the frequency of inflammatory diseases in the families of patients with FMF? DOI:10.1136/annrheumdis-2020-eular.6263.
28. M. Kiraci et al. Comparison of demographic and clinical features Of FMF patients and patients with axial spondyloarthritis accompanying FMF. DOI: 10.1136/annrheumdis-2021-eular.3738.
29. N. Ziade, A Nassar. Association of Spondyloarthritis and FMF and impact on disease phenotype: A systematic review of the literature. DOI: 10.1136/annrheumdis-2020-eular.6009.
30. R. Gallizzi et al. Adherence to colchicine treatment and colchicine resistance in a multicentric FMF national cohort. Annals of the Rheumatic Diseases Jun 2020, 79 (Suppl 1) 170–171. DOI: 10.1136/annrheumdis-2020-eular.1402.
31. T. Klein et al. The coexistence of FMF in Systemic Lupus Erythematosus patients – a cross sectional study. DOI: 10.1136/annrheumdis-2020-eular.2305.
32. E. Ozer et al. The frequency of Juvenile Spondyloarthropathies in childhood FMF. DOI: 10.1136/annrheumdis-2018-eular.3419.
33. O. Alsparian et al. In FMF prevalent region are FMF and Behcet’s disease associated? DOI: 10.1136/annrheumdis-2019-eular.3896.
34. C. Kokmaz et al. Coexistence of demyelination disease and FMF. DOI: 10.1136/annrheumdis-2020-eular.6273.
35. S. Tiosano et al. Increased risk of ischaemic heart disease and mortality among FMF patients – perspective from a big database. Annals of the Rheumatic Diseases Jun 2018, 77 (Suppl 2) 94. DOI: 10.1136/annrheumdis-2018-eular.4768.
36. Yin X, Wu B, Xu t. Interventions for reducing inflammation in Familial Mediterranean fever. Cochrane Database of systematic reviews 2022, Issue3. Art. No: CD10893. DOI: 10.1002/14651858.CD10893.Pub4.
37. H. Babaoglu et al. On demand use of anakinra for the attacks of familial mediterranean fever (FMF). Annals of the Rheumatic Diseases Jun 2018, 77 (Suppl 2) 507–508. DOI: 10.1136/annrheumdis-2018-eular.7198.
38. E. Sag et al. Anti-il1 treatment in colchicine resistant pediatric FMF patients-real life data from the HELIOS registry. Annals of the Rheumatic Diseases Jun 2020, 79 (Suppl 1) 179–180. DOI: 10.1136/annrheumdis-2020-eular.1313.
39. J. Henes. Long-term efficacy and safety of canakinumab in patients with familial mediterranean fever (FMF) – interim analysis of the reliance registry. Annals of the Rheumatic Diseases Jun 2021, 80 (Suppl 1) 971–972. DOI: 10.1136/annrheumdis-2021-eular.3756.
40. J. Henes et al. Long-term efficacy and safety of canakinumab in patients with familial mediterranean fever (FMF) – interim analysis of the reliance registry. Annals of the Rheumatic Diseases Jun 2022, 81 (Suppl 1) 29–30. DOI: 10.1136/annrheumdis-2022-eular.4839.
41. J. Henes et al. Long-term safety and effectiveness of canakinumab in familial mediterranean fever (FMF) – 36-month data from the reliance registry. Annals of the Rheumatic Diseases Jun 2023, 82 (Suppl 1) 1160–1161. DOI: 10.1136/annrheumdis-2023-eular.6123.
42. F. De Benedetti et al. Long-term efficacy and safety of canakinumab in patients with colchicine-resistant FMF (CRFMF), traps and hids/mkd: Results from the pivotal phase 3 cluster trial. Annals of the Rheumatic Diseases Jun 2018, 77 (Suppl 2) 486–487. DOI: 10.1136/annrheumdis-2018-eular.5246.
43. K. Shehadeh et al. On demand canakinumab therapy for colchicine resistant familial mediterranean fever (FMF) paediatric patients – a multicenter study. Annals of the Rheumatic Diseases Jun 2023, 82 (Suppl 1) 670–671. DOI: 10.1136/annrheumdis-2023-eular.6147.
Рецензия
Для цитирования:
Бабаева А.Р., Калинина Е.В. Актуальные клинические аспекты семейной средиземноморской лихорадки. Медицинский алфавит. 2023;(31):8-14. https://doi.org/10.33667/2078-5631-2023-31-8-14
For citation:
Babaeva A.R., Kalinina E.V. Current clinical aspects of familial Mediterranean fever. Medical alphabet. 2023;(31):8-14. (In Russ.) https://doi.org/10.33667/2078-5631-2023-31-8-14