References

mrj

Современная ревматология

Modern Rheumatology Journal

1996-70122310-158X

IMA-PRESS, LLC

10.14412/1996-7012-2016-2-4-11

mrj-677

Research Article

КЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИ

CLINICAL GUIDELINES

Современные подходы к диагностике , лечению и мониторингу пациенто в с криопирин-ассоциированными периодическими синдромами (CAPS)

Current approaches to diagnosis, treatment, and monitoring in patients with cryopyrin-associated periodic syndromes (CAPS)

Салугина

С. О.

Salugina

S. O.

pafon1@yandex.ru

Федоров

Е. С.

Fedorov

E. S.

Кузьмина

Н. Н.

Kuzmina

N. N.

ФГБНУ Научно-исследовательский институт ревматологии им. В.А. Насоновой, Москва, Россия 115522, Москва, Каширское шоссе, 34АРоссияV.A. Nasonova Research Institute of Rheumatology, Moscow, Russia 34A, Kashirskoe Shosse, Moscow 115552Russian Federation

2016

05062016

102411

2016

Салугина С.О., Федоров Е.С., Кузьмина Н.Н.

Salugina S.O., Fedorov E.S., Kuzmina N.N.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://mrj.ima-press.net/mrj/article/view/677

Криопирин-ассоциированные периодические синдромы (Cryopyrin-Associated Periodic Syndromes, CAPS) являются наиболее яркими представителями моногенных аутовоспалительных заболеваний (АВЗ). Они характеризуются сочетанием лихорадки, сыпи и других симптомов, сопровождающихся формированием потенциально инвалидизирующих или жизнеугрожающих осложнений. На основе современных рекомендаций по ведению пациентов с АВЗ, а также нашего собственного опыта разработан алгоритм диагностики CAPS, позволяющий оптимизировать их дифференциальную диагностику с системным ювенильным артритом и другими АВЗ, раннее назначение эффективной терапии, а также тактику ведения пациентов. Ингибиторы интерлейкина 1 являются таргетными средствами, с помощью которых можно контролировать активность и предупреждать развитие осложнений. Представленный алгоритм позволит улучшить своевременную диагностику CAPS, оптимизировать лечение и ведение пациентов в рамках стратегии «Treat to target».

Cryopyrin-associated periodic syndromes (CAPS) are the most prominent representatives of monogenic autoinflammatory diseases (AIDs). They are characterized by a concurrence of fever, rash, and other symptoms that are accompanied by disabling or life-threatening complications. Based on the current guidelines for the management of patients with AIDs and on their own experience, the authors have elaborated a diagnostic algorithm for CAPS, which can optimize their differential diagnosis with systemic juvenile arthritis and other AIDs and the early use of effective therapy and management tactics. Interleukin-1 inhibitors are target agents, by which one can monitor activity and prevent complications. The given algorithm will be able to improve the timely diagnosis of CAPS and to optimize treat-to-target treatment and management in patients.

криопирин-ассоциированные периодические синдромы (CAPS)рекомендациилечениемониторингингибиторы интерлейкина 1канакинумаб

cryopyrin-associated periodic syndromes (CAPS)guidelinestreatmentmonitoringinterleukin-1 inhibitorscanakinumab

References1

Гатторно М. Аутовоспалительные заболевания у детей. Вопросы современной педиатрии. 2014;(13):55-64. [Gattorno M. Autoinflammatory diseases in children. Voprosy sovremennoi pediatrii. 2014;(13): 55-64. (In Russ.)].

Caso F, Rigante D, Vitale A, et al. Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. Int J Rheumatol. 2013;2013:513782. doi: 10.1155/2013/513782. Epub 2013 Oct 24.

Yu JR, Leslie KS. Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response. Curr Allergy Asthma Rep. 2011 Feb;11(1):12-20. doi: 10.1007/ s11882-010-0160-9.

Гатторно М. Криопирин-ассоциированный периодический синдром. Вопросы современной педиатрии. 2013; 12(1):57-62. [Gattorno M. Cryopyrin-associated periodic syndrome. Voprosy sovremennoi pediatrii. 2013;12(1):57-62. (In Russ.)].

Kuemmerle-Deschner JB, Samba SD, Tyrrell PN, et al. Challenges in diagnosing Muckle-Wells Syndrome: identifying two dictinct phenotypes. Arthritis Care Res (Hoboken). 2014 May;66(5):765-72. doi: 10.1002/acr.22206.

Cantarini L, Vitale A, Lucherini OM, et al. Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined. Reumatismo. 2013 Jun 12;65(2): 55-62. doi: 10.4081/reumatismo.2013.55.

Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012 Jul;71(7):1177-82. doi: 10.1136/annrheumdis-2011-200549. Epub 2012 Feb 29.

Gattorno M, Sormani NP, D’Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008 Jun;58(6):1823-32. doi: 10.1002/art.23474.

Federici S, Sormani M, Ozen S, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis. 2015 May;74(5): 799-805. doi: 10.1136/annrheumdis-2014-206580. Epub 2015 Jan 30.

Shinar Y, Obici L, Aksentijevich I, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/ annrheumdis-2011-201271. Epub 2012 Jun 1.

Ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24.

Tilson H, Primatesta P, Kim D, et al. Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry. Orphanet J Rare Dis. 2013 Sep 10;8:139. doi: 10.1186/1750-1172-8-139.

Federici S, Gattorno M. A practical approach to the diagnosis of autoinflammatory diseases in childhood. Best Pract Res Clin Rheumatol. 2014 Apr;28(2):263-76. doi: 10.1016/j.berh.2014.05.005.

Federici S, Martini A, Gattorno M. The central role of anti-IL-1 blockade in the treatment of monogenic and multi-factorial autoinflammatory diseases. Front Immunol. 2013 Oct 31;4:351. doi: 10.3389/fimmu. 2013.00351.

FDA Approval labels. http://www.accesdata.fda.gov/scripts/cder/drugsatfda/index.cfm

European public assessment reports.http://www.ema.europa.eu/ema/index.jsp

Kone-Paut I, Lachmann HJ, Kuemmerle-Deschner JB, et al. Sustained remission of symptoms and improved healthrelated quality of life in patients with cryopyrin- associated periodic syndrome treated with canakinumab: results of a double-blind placebo- controlled randomized withdrawal study. Arthritis Res Ther. 2011;13(6):R202. doi: 10.1186/ar3535. Epub 2011 Dec 9.

Lachmann H, Kone-Paut I, Kuemmerle-Deschner GB, et al.; Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009 Jun 4;360(23):2416-25. doi: 10.1056/NEJMoa0810787.

Kuemmerle-Deschner J, Haug I. Canakinumab in patients with cryopyrinassociated periodic syndrome: an update for clinicians. Ther Adv Musculoskelet Dis. 2013 Dec;5(6):315-29. doi: 10.1177/ 1759720X13502629..

Toker O, Hashkes PJ. Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS). Biologics. 2010 May 25;4:131-8.

Kuemmerle-Deschner JB, Hachulla E, Gartwright R, et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of Canakinumab in pts with cryopyrin associated periodic syndrome across different severity phenotypes. Ann Rheum Dis. 2011 Dec;70(12):2095-102. doi: 10.1136/ard.2011.152728. Epub 2011 Aug 21.

Russo RA, Melo-Gomes S, Lachmann HJ, et al. Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience. Rheumatology (Oxford). 2014 Apr;53(4): 665-70. doi: 10.1093/rheumatology/ket415. Epub 2013 Dec 17.

Hoffman H, Kuemmerle-Deschner J, Hawkins P, et al. Safety of canacinumab in a large cohort of patients with cryopirinassociated periodic syndrome: results from the confident registry. Arthritis Rheum. 2012; 64(10): S78.

Kuemmerle-Deschner J, Koitschev A, Ummenhofer K, et al. Hearing loss in Muckle-Wells syndrome. Arthritis Rheum. 2013 Mar;65(3):824-31. doi: 10.1002/ art.37810.

Koitschev A, Gramlich K, Hansmann S, et al. Progressive familial hearing loss in Muckle-Wells syndrome. Acta Otolaryngol. 2012 Jul;132(7):756-62. doi: 10.3109/ 00016489.2012.656321. Epub 2012 Apr 12.

Sibley CH, Chioato A, Felix S, et al. A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease. Ann Rheum Dis. 2015 Sep;74(9): 1714-9. doi: 10.1136/annrheumdis-2013-204877. Epub 2014 Jun 6.

Goldbach-Mansky R, Sibley C, Felix S, et al. Efficacy and safety of canacinumab in patients with NOMID/CINCA. Ann Rheum Dis. 2012; 71(suppl.3):291.

Caorsi R, Lepore L, Zulian F, et al. The schedule of administration of Canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. Arthritis Res Ther. 2013 Feb 26;15(1):R33. doi: 10.1186/ar4184.

The authors declare that there are no conflicts of interest present.