Nöromyelitis Optika ve Tedavisi
Özet
Nöromyelitis optika spektrum bozukluğu (NMOSD), optik sinirleri ve spinal kordu öncelikli olarak etkileyen, merkezi sinir sisteminin nadir ve antikor aracılı otoimmün bir hastalığıdır. Bu bölüm, hastalığın tarihsel gelişiminden başlayarak epidemiyolojisini, akuaporin-4 (AQP4) antikorlarının rolüne odaklanan immünopatogenezini ve klinik sunumlarını detaylandırmaktadır. Özellikle 2015 Uluslararası Konsensüs Tanı Kriterleri ışığında AQP4-IgG pozitif ve negatif olguların yönetimi, karakteristik görüntüleme bulguları ve Multipl Skleroz (MS) ile olan ayırıcı tanısı üzerinde durulmuştur. Bölümün odak noktası güncel tedavi stratejileridir. Akut atak yönetiminde kullanılan yüksek doz kortikosteroidler ve plazma değişiminin (plazmaferez) yanı sıra, uzun vadeli atak önleyici tedaviler kapsamlıca incelenmiştir. Klasik immünosüpresanlardan (azatioprin, mikofenolat mofetil), hastalığın seyrini değiştiren ve son yıllarda onay alan yeni nesil monoklonal antikorlara (rituksimab, ekulizumab, inebilizumab, satralizumab ve ravulizumab) kadar geniş bir yelpazedeki tedavi seçeneklerinin etkinlikleri, güvenlik profilleri ve etki mekanizmaları güncel literatür verileri eşliğinde sunulmaktadır.
Referanslar
Huda, S., Whittam, D., Bhojak, M., et al (2019). Neuromyelitis optica spectrum disorders. Clinical medicine (London, England). 19(2), 169–176. doi:10.7861/clinmedicine.19-2-169.
Lennon VA, Wingerchuk DM, Kryzer TJ, et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet. 2004 Dec 11-17;364(9451):2106-12. doi: 10.1016/S0140-6736(04)17551-X.
Hor JY, Asgari N, Nakashima I, et al. Epidemiology of Neuromyelitis Optica Spectrum Disorder and Its Prevalence and Incidence Worldwide. Frontiers in Neurology. 2020 Jun 26; 11:501. doi: 10.3389/fneur.2020.00501.
Papp V, Illes Z, Magyari M, et al. Nationwide prevalence and incidence study of neuromyelitis optica spectrum disorder in Denmark. Neurology. 2018 Dec 11;91(24):e2265-e2275. doi: 10.1212/WNL.0000000000006645.
Jonsson DI, Sveinsson O, Hakim R, et al. Epidemiology of NMOSD in Sweden from 1987 to 2013: A nationwide population-based study. Neurology. 2019 Jul 9;93(2): e181-e189. doi: 10.1212/WNL.0000000000007746.
Flanagan EP, Cabre P, Weinshenker BG, et al. Epidemiology of aquaporin-4 autoimmunity and neuromyelitis optica spectrum. Annals of Neurology. 2016 May;79(5):775-783. doi: 10.1002/ana.24617.
Holroyd KB, Aziz F, Szolics M, et al. Prevalence and characteristics of transverse myelitis and neuromyelitis optica spectrum disorders in the United Arab Emirates: A multicenter, retrospective study. Clinical and Experimental Neuroimmunology. 2018 Aug;9(3):155-161. doi: 10.1111/cen3.12458.
Siritho S, Nakashima I, Takahashi T, et al. AQP4 antibody-positive Thai cases: clinical features and diagnostic problems. Neurology. 2011 Aug 30;77(9):827-34. doi: 10.1212/WNL.0b013e31822c61b1.
Collongues N, Marignier R, Zéphir H, et al. Long-term follow-up of neuromyelitis optica with a pediatric onset. Neurology. 2010 Sep 21;75(12):1084-8. doi: 10.1212/WNL.0b013e3181f39a66.
Quek AM, McKeon A, Lennon VA, et al. Effects of age and sex on aquaporin-4 autoimmunity. Archives of Neurology. 2012 Aug;69(8):1039-43. doi: 10.1001/archneurol.2012.249.
Pandit L, Asgari N, Apiwattanakul M, et al. Demographic and clinical features of neuromyelitis optica: A review. Multiple sclerosis (Houndmills, Basingstoke, England). 2015 Jun;21(7):845-53. doi: 10.1177/1352458515572406.
Lennon VA, Kryzer TJ, Pittock SJ, et al. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. The Journal of experimental medicine. 2005; 202:473–7. doi:10.1084/jem.20050304.
Saadoun S, Papadopoulos MC. Role of membrane complement regulators in neuromyelitis optica. Multiple sclerosis (Houndmills, Basingstoke, England). 2015; 21:1644–54. doi:10.1177/1352458515571446.
Takeshita, Y., Obermeier, B., Cotleur, A. C., et al (2016). Effects of neuromyelitis optica-IgG at the blood-brain barrier in vitro. Neurolog, neuroimmunology & neuroinflammation, 4(1), e311. doi:10.1212/NXI.0000000000000311.
Hinson SR, Roemer SF, Lucchinetti CF, et al. Aquaporin-4-binding autoantibodies in patients with neuromyelitis optica impair glutamate transport by down-regulating EAAT2. The Journal of experimental medicine. 2008; 205:2473–81. doi:10.1084/jem.20081241.
Wingerchuk DM, Lennon VA, Pittock SJ, et al. Revised diagnostic criteria for neuromyelitis optica. Neurology. 2006 May 23;66(10):1485-9. doi: 10.1212/01.wnl.0000216139.44259.74.
Elsone L, Townsend T, Mutch K, et al. Neuropathic pruritus (itch) in neuromyelitis optica. Multiple sclerosis (Houndmills, Basingstoke, England). 2013 Apr;19(4):475-9. doi: 10.1177/1352458512457720.
Usmani N, Bedi G, Lam BL, et al. Association between paroxysmal tonic spasms and neuromyelitis optica. Archives of Neurology. 2012 Jan;69(1):121-4. doi: 10.1001/archneurol.2011.832.
Flanagan EP, Weinshenker BG, Krecke KN, et al. Short myelitis lesions in aquaporin-4-IgG-positive neuromyelitis optica spectrum disorders. JAMA Neurology. 2015 Jan;72(1):81-7. doi: 10.1001/jamaneurol.2014.2137.
Pittock, S. J., & Lucchinetti, C. F. (2016). Neuromyelitis optica and the evolving spectrum of autoimmune aquaporin-4 channelopathies: a decade later. Annals of the New York Academy of Sciences, 1366(1), 20–39. doi:10.1111/nyas.12794.
Kremer L, Mealy M, Jacob A, et al. Brainstem manifestations in neuromyelitis optica: a multicenter study of 258 patients. Multiple sclerosis (Houndmills, Basingstoke, England). 2014 Jun;20(7):843-7. doi: 10.1177/1352458513507822.
Kanbayashi T, Shimohata T, Nakashima I, et al. Symptomatic narcolepsy in patients with neuromyelitis optica and multiple sclerosis: new neurochemical and immunological implications. Archives of Neurology. 2009 Dec;66(12):1563-6. doi: 10.1001/archneurol.2009.264.
Juryńczyk M, Tackley G, Kong Y, et al. Brain lesion distribution criteria distinguish MS from AQP4-antibody NMOSD and MOG-antibody disease. Journal of Neurology, Neurosurgery and Psychiatry. 2017 Feb;88(2):132-136. doi: 10.1136/jnnp-2016-314005.
Wingerchuk DM, Banwell B, Bennett JL, et al. International Panel for NMO Diagnosis. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015 Jul 14;85(2):177-89. doi: 10.1212/WNL.0000000000001729.
Jarius S, Aktas O, Ayzenberg I, et al. Update on the diagnosis and treatment of neuromyelits optica spectrum disorders (NMOSD)- revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part I: Diagnosis and differential diagnosis. Journal of Neurology. 2023 Jul;270(7):3341-3368. doi: 10.1007/s00415-023-11634-0.
Kleiter I, Gahlen A, Borisow N, et al. Neuromyelitis optica: Evaluation of 871 attacks and 1,153 treatment courses. Annals of Neurology. 2016 Feb;79(2):206-16. doi: 10.1002/ana.24554.
Kümpfel T, Giglhuber K, Aktas O, et al.). Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD)- revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: Attack therapy and long-term management. Journal of Neurology. 2024 Jan;271(1):141-176. doi: 10.1007/s00415-023-11910-z.
Demuth S, Guillaume M, Bourre B, et al. Treatment regimens for neuromyelitis optica spectrum disorder attacks: a retrospective cohort study. Journal of Neuroinflammation. 2022 Mar 2;19(1):62. doi: 10.1186/s12974-022-02420-2.
Akaishi T, Nakashima I, Takahashi T, et al. Neuromyelitis optica spectrum disorders with unevenly clustered attack occurrence. Neurology Neuroimmunology & Neuroinflammation. 2019 Nov 22;7(1): e640. doi: 10.1212/NXI.0000000000000640.
Mealy MA, Mossburg SE, Kim SH, et al. Long-term disability in neuromyelitis optica spectrum disorder with a history of myelitis is associated with age at onset, delay in diagnosis/preventive treatment, MRI lesion length and presence of symptomatic brain lesions. Multiple Sclerosis and Related Disorders. 2019; 28:64–68. doi: 10.1016/j.msard.2018.12.011.
Huang W, Wang L, Zhang B, et al. Effectiveness and tolerability of immunosuppressants and monoclonal antibodies in preventive treatment of neuromyelitis optica spectrum disorders: A systematic review and network meta-analysis. Multiple Sclerosis and Related Disorders. 2019 Oct; 35:246-252. doi: 10.1016/j.msard.2019.08.009.
Ringelstein M, Ayzenberg I, Lindenblatt G, et al. Neuromyelitis Optica Study Group (NEMOS). Interleukin-6 Receptor Blockade in Treatment-Refractory MOG-IgG-Associated Disease and Neuromyelitis Optica Spectrum Disorders. Neurology Neuroimmunology & Neuroinflammation. 2021 Nov 16;9(1): e1100. doi: 10.1212/NXI.0000000000001100.
Qiu W, Kermode AG, Li R, et al. Azathioprine plus corticosteroid treatment in Chinese patients with neuromyelitis optica. Journal of Clinical Neuroscience. 2015; 22:1178–1182. doi: 10.1016/j.jocn.2015.01.028.
Stellmann JP, Krumbholz M, Friede T, et al. Immunotherapies in neuromyelitis optica spectrum disorder: efficacy and predictors of response. Journal of Neurology, Neurosurgery and Psychiatry. 2017; 88:639–647. doi: 10.1136/jnnp-2017-315603.
Montcuquet A, Collongues N, Papeix C, et al. Effectiveness of mycophenolate mofetil as first-line therapy in AQP4-IgG, MOG-IgG, and seronegative neuromyelitis optica spectrum disorders. Multiple sclerosis (Houndmills, Basingstoke, England). 2017; 23:1377–1384. Doi: 10.1177/1352458516678474.
Tahara M, Oeda T, Okada K, et al. Safety and efficacy of rituximab in neuromyelitis optica spectrum disorders (RIN-1 study): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurology. 2020; 19:298–306. doi: 10.1016/S1474-4422(20)30066-1.
Abbadessa G, Miele G, Maida E, et al. Optimal retreatment schedule of rituximab for neuromyelitis optica spectrum disorder: a systematic review. Multiple Sclerosis and Related Disorders. 2022; 63:103926. doi: 10.1016/j.msard.2022.103926.
Kim SH, Park NY, Kim KH, et al. Rituximab-induced hypogammaglobulinemia and risk of infection in neuromyelitis optica spectrum disorders: a 14-year real-life experience. Neurology Neuroimmunology & Neuroinflammation. 2022;9: e1179. Doi: 10.1212/NXI.0000000000001179.
Cree BAC, Bennett JL, Kim HJ, et al. Inebilizumab for the treatment of neuromyelitis optica spectrum disorder (N-MOmentum): a double-blind, randomised placebo-controlled phase 2/3 trial. The Lancet. 2019; 394:1352–1363. doi: 10.1016/S0140-6736(19)31817-3.
Cotzomi E, Stathopoulos P, Lee CS, et al. Early B cell tolerance defects in neuromyelitis optica favour anti-AQP4 autoantibody production. Brain. 2019; 142:1598–1615. doi: 10.1093/brain/awz106.
Wingerchuk DM, Fujihara K, Palace J, et al. Long-term safety and efficacy of eculizumab in aquaporin-4 IgG-positive NMOSD. Annals of Neurology. 2021; 89:1088–1098. doi: 10.1002/ana.26049.
Ringelstein M. ECTRIMS 2022—ePoster. Multiple Sclerosis Journal. 2022; 28:692–945. doi: 10.1177/13524585221123682.
Pittock SJ, Berthele A, Fujihara K, et al. Eculizumab in aquaporin-4-positive neuromyelitis optica spectrum disorder. The New England Journal of Medicine. 2019; 381:614–625. doi: 10.1056/NEJMoa1900866.
Pittock SJ, Barnett M, Bennett JL, et al. Ravulizumab in aquaporin-4-positive neuromyelitis optica spectrum disorder. Annals of Neurology. 2023; 93:1053–1068. doi: 10.1002/ana.26626.
McNamara LA, Topaz N, Wang X, et al. High risk for invasive meningococcal disease among patients receiving eculizumab (soliris) despite receipt of meningococcal vaccine. Morbidity and Mortality Weekly Report. 2017;66(27):734–737. doi: 10.15585/mmwr.mm6627e1.
Zhang C, Zhang M, Qiu W, et al. Safety and efficacy of tocilizumab versus azathioprine in highly relapsing neuromyelitis optica spectrum disorder (TANGO): an open-label, multicentre, randomised, phase 2 trial. Lancet Neurology. 2020; 19:391–401. doi: 10.1016/S1474-4422(20)30070-3.
Traboulsee A, Greenberg BM, Bennett JL, et al. Safety and efficacy of satralizumab monotherapy in neuromyelitis optica spectrum disorder: a randomised, double-blind, multicentre, placebo-controlled phase 3 trial. Lancet Neurology. 2020; 19:402–412. doi: 10.1016/S1474-4422(20)30078-8.
Yamamura T, Kleiter I, Fujihara K, et al. Trial of satralizumab in neuromyelitis optica spectrum disorder. The New England Journal of Medicine. (2019; 381:2114–2124. doi: 10.1056/NEJMoa1901747.
Konen FF, Schwenkenbecher P, Jendretzky KF, et al. Stem cell therapy in neuroimmunological diseases and its potential neuroimmunological complications. Cells. 2022; 11:2165. doi: 10.3390/cells11142165.