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Anti-AQP4 disease

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Anti-AQP4 disease
Other namesNeuromyelitis optica spectrum of diseases

Anti-AQP4 diseases, are a group of diseases characterized by auto-antibodies against aquaporin 4.

After the discovery of anti-AQP4 autoantibody in neuromyelitis optica, it was found that it was also present in some patients with other clinically defined diseases, including multiple sclerosis variants like optic-spinal MS.[1]

The collection of these condition has been named "anti-AQP4 disease" and "neuromyelitis optica spectrum disorders" (NMSD) and they are expected to respond to the same treatments as standard NMO.[2][failed verification] Some authors propose to use the name "autoimmune aquaporin-4 channelopathy" for these diseases,[3] while others prefer a more generic term "AQP4-astrocytopathy" that includes also problems in AQP4 with a non-autoimmune origin.[4][1][5]

Clinical Spectrum

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After finding the anti-AQP4 autoantibody in cases outside the standard Devic's disease course, the spectrum was expanded. The spectrum is now believed to consist of:

Devic's disease is currently considered a syndrome more than a disease, presenting an overlapping with the wide spectrum of multiple sclerosis in the form of Optic-Spinal MS.[10]

Causes

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The reason for the presence of anti-AQP4 autoantibodies is currently unknown. Some researchers have pointed out that it could be paraneoplastic.[11][non-primary source needed] It seems also clear that lupus can produce NMO-IgG autoantibodies sometimes, leading to some cases of lupus-derived NMO.[12][non-primary source needed]

Diagnosis

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Differential diagnosis

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AQP4-Ab-negative NMO presents problems for diagnosis. The behavior of the oligoclonal bands respect MS[clarification needed] can help to establish a more accurate diagnosis. Oligoclonal bands in NMO are rare and they tend to disappear after the attacks, while in MS they are nearly always present and persistent.[13]

It is important to notice for differential diagnosis that, though uncommon, it is possible to have longitudinal lesions in MS.[14]

Other problem for diagnosis is that AQP4ab in MOGab levels can be too low to be detected. Some additional biomarkers have been proposed.[15][16]

Treatment

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Chemical structure of methylprednisolone, which is used to treat attacks

Currently, there is no cure for Devic's disease, but symptoms can be treated. Some patients recover, but many are left with impairment of vision and limbs, which can be severe.[citation needed]

Attacks

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Attacks are treated with short courses of high dosage intravenous corticosteroids such as methylprednisolone IV.[citation needed]

Plasmapheresis can be an effective treatment[8] when attacks progress or do not respond to corticosteroid treatment. Clinical trials for these treatments contain very small numbers, and most are uncontrolled, though some report high success percentage.[17]

Secondary prevention

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Until recently, no placebo-controlled trials had established the effectiveness of treatments for the prevention of attacks. Most clinicians agree that long term immunosuppression is required to reduce the frequency and severity of attacks. Commonly used immunosuppressant treatments include azathioprine (Imuran) plus prednisone, mycophenolate mofetil plus prednisone,[18][non-primary source needed] mitoxantrone, intravenous immunoglobulin (IVIG), Rituximab, Soliris and cyclophosphamide.[8][19]

The disease is known to be auto-antibodies mediated, and (antibody-producing) B-cell depletion has been tried[20] with monoclonal antibodies showing good results.[21][non-primary source needed] Several other disease modifying therapies are being tried. In 2007, Devic's disease was reported to be responsive to glatiramer acetate[18][non-primary source needed] and to low-dose corticosteroids.[22] Use of Mycophenolate mofetil is also currently under research.[23]

Hematopoietic stem cell transplantation (HSCT) is sometimes used in severe cases of NMO. Early data suggested that then-practiced forms of HSCT were very effective only in the short term.[24] However, later study data had most patients thriving, with no relapses within 5 years.[25]

References

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  1. ^ a b Wingerchuk DM, Banwell B, Bennett JL, Cabre P, Carroll W, Chitnis T, de Seze J, Fujihara K, Greenberg B, Jacob A, Jarius S, Lana-Peixoto M, Levy M, Simon JH, Tenembaum S, Traboulsee AL, Waters P, Wellik KE, Weinshenker BG (July 2015). "International consensus diagnostic criteria for neuromyelitis optica spectrum disorders". Neurology. 85 (2): 177–89. doi:10.1212/WNL.0000000000001729. PMC 4515040. PMID 26092914.
  2. ^ Fujihara K, Sato DK (October 2013). "AQP4 antibody serostatus: Is its luster being lost in the management and pathogenesis of NMO?". Neurology. 81 (14): 1186–8. doi:10.1212/WNL.0b013e3182a6cc23. PMID 23997154. S2CID 35351168.
  3. ^ Pittock SJ, Lucchinetti CF (February 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. Bibcode:2016NYASA1366...20P. doi:10.1111/nyas.12794. PMC 4675706. PMID 26096370.
  4. ^ Masaki K (October 2015). "Early disruption of glial communication via connexin gap junction in multiple sclerosis, Baló's disease and neuromyelitis optica". Neuropathology. 35 (5): 469–80. doi:10.1111/neup.12211. PMID 26016402. S2CID 6371457.
  5. ^ Masaki K, Suzuki SO, Matsushita T, Matsuoka T, Imamura S, Yamasaki R, Suzuki M, Suenaga T, Iwaki T, Kira J (2013). "Connexin 43 astrocytopathy linked to rapidly progressive multiple sclerosis and neuromyelitis optica". PLOS ONE. 8 (8): e72919. Bibcode:2013PLoSO...872919M. doi:10.1371/journal.pone.0072919. PMC 3749992. PMID 23991165.
  6. ^ Li Y, Xie P, Lv F, Mu J, Li Q, Yang Q, Hu M, Tang H, Yi J (October 2008). "Brain magnetic resonance imaging abnormalities in neuromyelitis optica". Acta Neurologica Scandinavica. 118 (4): 218–25. doi:10.1111/j.1600-0404.2008.01012.x. PMID 18384459. S2CID 22270592.
  7. ^ Isobe, Noriko; Yonekawa, Tomomi; Matsushita, Takuya; Masaki, Katsuhisa; Yoshimura, Satoshi; Fichna, Jakub; Chen, Shu; Furmaniak, Jadwiga; Smith, Bernard Rees; Kira, Jun-ichi (2013-05-01). "Clinical Relevance of Serum Aquaporin-4 Antibody Levels in Neuromyelitis Optica". Neurochemical Research. 38 (5): 997–1001. doi:10.1007/s11064-013-1009-0. ISSN 1573-6903. PMID 23456674. S2CID 18623455.
  8. ^ a b c Wingerchuk, Dean (2006). "Neuromyelitis Optica (Devic's Syndrome)" (PDF). 2006 Rare Neuroimmunologic Disorders Symposium. Archived from the original (PDF) on 2006-09-25. Retrieved 2007-01-05.
  9. ^ Harmel J, Ringelstein M, Ingwersen J, Mathys C, Goebels N, Hartung HP, Jarius S, Aktas O (December 2014). "Interferon-β-related tumefactive brain lesion in a Caucasian patient with neuromyelitis optica and clinical stabilization with tocilizumab". BMC Neurology. 14: 247. doi:10.1186/s12883-014-0247-3. PMC 4301061. PMID 25516429.
  10. ^ Lassmann H, Brück W, Lucchinetti C (March 2001). "Heterogeneity of multiple sclerosis pathogenesis: implications for diagnosis and therapy". Trends in Molecular Medicine. 7 (3): 115–21. doi:10.1016/s1471-4914(00)01909-2. PMID 11286782.
  11. ^ Iorio R, Rindi G, Erra C, Damato V, Ferilli M, Sabatelli M (May 2015). "Neuromyelitis optica spectrum disorder as a paraneoplastic manifestation of lung adenocarcinoma expressing aquaporin-4". Multiple Sclerosis. 21 (6): 791–4. doi:10.1177/1352458515572241. PMID 25716881. S2CID 22763815.
  12. ^ Kovacs KT, Kalluri SR, Boza-Serrano A, Deierborg T, Csepany T, Simo M, Rokusz L, Miseta A, Alcaraz N, Czirjak L, Berki T, Molnar T, Hemmer B, Illes Z (August 2016). "Change in autoantibody and cytokine responses during the evolution of neuromyelitis optica in patients with systemic lupus erythematosus: A preliminary study". Multiple Sclerosis. 22 (9): 1192–201. doi:10.1177/1352458515613165. PMID 26514978. S2CID 3808843.
  13. ^ Bergamaschi R, Tonietti S, Franciotta D, Candeloro E, Tavazzi E, Piccolo G, Romani A, Cosi V (February 2004). "Oligoclonal bands in Devic's neuromyelitis optica and multiple sclerosis: differences in repeated cerebrospinal fluid examinations". Multiple Sclerosis. 10 (1): 2–4. doi:10.1191/1352458504ms988oa. PMID 14760945. S2CID 11730134.
  14. ^ Komatsu J, Sakai K, Nakada M, Iwasa K, Yamada M (August 2017). "Long spinal cord lesions in a patient with pathologically proven multiple sclerosis". Journal of Clinical Neuroscience. 42: 106–108. doi:10.1016/j.jocn.2017.03.022. PMID 28465080. S2CID 3443914.
  15. ^ Arru G, Sechi E, Mariotto S, Farinazzo A, Mancinelli C, Alberti D, Ferrari S, Gajofatto A, Capra R, Monaco S, Deiana GA, Caggiu E, Mameli G, Sechi LA, Sechi GP (2017). "Antibody response against HERV-W env surface peptides differentiates multiple sclerosis and neuromyelitis optica spectrum disorder". Multiple Sclerosis Journal: Experimental, Translational and Clinical. 3 (4): 2055217317742425. doi:10.1177/2055217317742425. PMC 5703109. PMID 29204291.
  16. ^ Jurynczyk M, Probert F, Yeo T, Tackley G, Claridge TD, Cavey A, Woodhall MR, Arora S, Winkler T, Schiffer E, Vincent A, DeLuca G, Sibson NR, Isabel Leite M, Waters P, Anthony DC, Palace J (December 2017). "Metabolomics reveals distinct, antibody-independent, molecular signatures of MS, AQP4-antibody and MOG-antibody disease". Acta Neuropathologica Communications. 5 (1): 95. doi:10.1186/s40478-017-0495-8. PMC 5718082. PMID 29208041.
  17. ^ Morgan SM, Zantek ND, Carpenter AF (June 2014). "Therapeutic plasma exchange in neuromyelitis optica: a case series". Journal of Clinical Apheresis. 29 (3): 171–7. doi:10.1002/jca.21304. PMID 24136389. S2CID 24287933.
  18. ^ a b Gartzen K, Limmroth V, Putzki N (June 2007). "Relapsing neuromyelitis optica responsive to glatiramer acetate treatment". European Journal of Neurology. 14 (6): e12–3. doi:10.1111/j.1468-1331.2007.01807.x. PMID 17539924. S2CID 24668975.
  19. ^ Weinstock-Guttman B, Ramanathan M, Lincoff N, Napoli SQ, Sharma J, Feichter J, Bakshi R (July 2006). "Study of mitoxantrone for the treatment of recurrent neuromyelitis optica (Devic disease)". Archives of Neurology. 63 (7): 957–63. doi:10.1001/archneur.63.7.957. PMID 16831964.
  20. ^ Matiello M, Jacob A, Wingerchuk DM, Weinshenker BG (June 2007). "Neuromyelitis optica". Current Opinion in Neurology. 20 (3): 255–60. doi:10.1097/WCO.0b013e32814f1c6b. PMID 17495617. S2CID 21483082.
  21. ^ Evangelopoulos ME, Andreadou E, Koutsis G, Koutoulidis V, Anagnostouli M, Katsika P, Evangelopoulos DS, Evdokimidis I, Kilidireas C (January 2017). "Treatment of neuromyelitis optica and neuromyelitis optica spectrum disorders with rituximab using a maintenance treatment regimen and close CD19 B cell monitoring. A six-year follow-up". Journal of the Neurological Sciences. 372: 92–96. doi:10.1016/j.jns.2016.11.016. PMID 28017256. S2CID 206291987.
  22. ^ Watanabe S, Misu T, Miyazawa I, Nakashima I, Shiga Y, Fujihara K, Itoyama Y (September 2007). "Low-dose corticosteroids reduce relapses in neuromyelitis optica: a retrospective analysis". Multiple Sclerosis. 13 (8): 968–74. doi:10.1177/1352458507077189. PMID 17623727. S2CID 6308153.
  23. ^ Montcuquet A, Collongues N, Papeix C, Zephir H, Audoin B, Laplaud D, Bourre B, Brochet B, Camdessanche JP, Labauge P, Moreau T, Brassat D, Stankoff B, de Seze J, Vukusic S, Marignier R (September 2017). "Effectiveness of mycophenolate mofetil as first-line therapy in AQP4-IgG, MOG-IgG, and seronegative neuromyelitis optica spectrum disorders". Multiple Sclerosis. 23 (10): 1377–1384. doi:10.1177/1352458516678474. PMID 27885065. S2CID 21685585.
  24. ^ Burman J, Tolf A, Hägglund H, Askmark H (February 2018). "Autologous haematopoietic stem cell transplantation for neurological diseases". Journal of Neurology, Neurosurgery, and Psychiatry. 89 (2): 147–155. doi:10.1136/jnnp-2017-316271. PMC 5800332. PMID 28866625.
  25. ^ Burt, Richard K.; Balabanov, Roumen; Han, Xiaoqiang; Burns, Carol; Gastala, Joseph; Jovanovic, Borko; Helenowski, Irene; Jitprapaikulsan, Jiraporn; Fryer, James P.; Pittock, Sean J. (2019). "Autologous nonmyeloablative hematopoietic stem cell transplantation for neuromyelitis optica". Neurology. 93 (18): e1732–e1741. doi:10.1212/WNL.0000000000008394. PMC 6946475. PMID 31578302.
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