Anti-AQP4 disease

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

Anti-AQP4 disease
Other namesNeuromyelitis optica spectrum of diseases

Since the discovery of AQP4 autoantibody, it has been found that it appears also in patients with NMO-like symptoms that do not fulfill the clinical requirements to be diagnosed NMO (Recurrent and simultaneous optic nerve and spinal cord inflammation).[1]

The term NMOSD (NMO Spectrum Disorders) has been designed to allow incorporation of cases associated a non-AQP4 biomarkers.[2] Therefore, it includes all the clinical variants due to anti-AQP4 plus other non-related but clinically similar syndromes like antiMOG associated encephalomyelitis. Some cases with MOG+ and AQP4+ antibodies have been found.[2]

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

Types

After the development of the NMO-IgG test, the spectrum of disorders comprising Devic's disease was expanded. The spectrum is now believed to consist of:

  • Standard Devic's disease, according to the diagnostic criteria described above
  • Limited forms of Devic's disease, such as single or recurrent events of longitudinally extensive myelitis, and bilateral simultaneous or recurrent optic neuritis
  • Asian optic-spinal MS (OSMS), or AQP4+ OSMS. This variant can present brain lesions like MS,[6] but it should not be confused with an AQP4-negative form of inflammatory demyelinating diseases of the central nervous system spectrum, sometimes called optic-spinal MS.
  • Longitudinally extensive myelitis or optic neuritis associated with systemic autoimmune disease
  • Optic neuritis or myelitis associated with lesions in specific brain areas such as the hypothalamus, periventricular nucleus, and brainstem[7]
  • NMO-IgG negative NMO: AQP4 antibody-seronegative NMO poses a diagnostic challenge.[8][9] Some cases could be related to anti-myelin oligodendrocyte glycoprotein (MOG) autoantibodies.[10]

Whether Devic's disease is a distinct disease or part of the wide spectrum of multiple sclerosis is debated.[11] Devic's disease differs in that it usually has more severe sequelae after an acute episode than standard MS, MS infrequently presents as transverse myelitis, and oligoclonal bands in the CSF, as well as white matter lesions on brain MRI, are uncommon in Devic's disease, but occur in over 90% of MS patients.[12]

Recently, AQP4 has been found to distinguish standard multiple sclerosis from neuromyelitis optica, but as MS is a heterogeneous condition,[13] and some MS cases are reported to be Kir4.1 channelopathies[14] (autoimmunity against the potassium channels) it is still possible to consider NMO as part of the MS spectrum. Besides, some NMO-AQP(−) variants are not astrocytopathic, but demyelinating.[15]

Presentation

Tumefactive lesions

Tumefactive demyelinating lesions in NMO are not usual, but they have been reported to appear in several cases mistakenly treated with interferon beta.[16]

Diagnosis

Differential diagnosis

AQP4-Ab-negative NMO presents problems for diagnosis. The behavior of the oligoclonal bands respect MS 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.[17]

It is important to notice for differential diagnosis that, though uncommon, it is possible to have longitudinal lesions in MS.[18]

Other problem for diagnosis is that AQP4ab in MOGab levels can be too low to be detected. Some additional biomarkers have been proposed.[19][20]

Treatment
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.

Attacks

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

Plasmapheresis can be an effective treatment[7] 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.[21]

Secondary prevention

No controlled trials have established the effectiveness of treatments for the prevention of attacks. Many clinicians agree that long term immunosuppression is required to reduce the frequency and severity of attacks, while others argue the exact opposite.[22] Commonly used immunosuppressant treatments include azathioprine (Imuran) plus prednisone, mycophenolate mofetil plus prednisone, mitoxantrone, intravenous immunoglobulin (IVIG), and cyclophosphamide.[7][23]

Though the disease is known to be auto-antibodies mediated, B-cell depletion has been tried[24] with the monoclonal antibody rituximab, showing good results.[25]

Several other disease modifying therapies are being tried. In 2007, Devic's disease was reported to be responsive to glatiramer acetate[26] and to low-dose corticosteroids.[27] Use of Mycophenolate mofetil is also currently under research.[28]

Hematopoietic stem cell transplantation (HSCT) is sometimes used in severe cases of NMO. Currently available data suggest that this procedure can reduce inflammatory activity in the short term, but a clear majority of the patients will relapse within 5 years.[29]

References
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  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.
  7. 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.
  8. Fujihara K, Leite MI (June 2013). "Seronegative NMO: a sensitive AQP4 antibody test clarifies clinical features and next challenges". Neurology. 80 (24): 2176–7. doi:10.1212/WNL.0b013e318296ea22. PMID 23658387.
  9. Marignier R, Bernard-Valnet R, Giraudon P, Collongues N, Papeix C, Zéphir H, Cavillon G, Rogemond V, Casey R, Frangoulis B, De Sèze J, Vukusic S, Honnorat J, Confavreux C (June 2013). "Aquaporin-4 antibody-negative neuromyelitis optica: distinct assay sensitivity-dependent entity". Neurology. 80 (24): 2194–200. doi:10.1212/WNL.0b013e318296e917. PMID 23658379.
  10. Pröbstel AK, Rudolf G, Dornmair K, Collongues N, Chanson JB, Sanderson NS, Lindberg RL, Kappos L, de Seze J, Derfuss T (March 2015). "Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype". Journal of Neuroinflammation. 12: 46. doi:10.1186/s12974-015-0256-1. PMC 4359547. PMID 25889963.
  11. Saida T (June 2008). "[Overview of MS: proposal of new MS definition/classification and review of the results of recent clinical trials]". Nihon Rinsho. Japanese Journal of Clinical Medicine (abstract). 66 (6): 1081–6. PMID 18540351.
  12. Pearce JM (November 2005). "Neuromyelitis optica". Spinal Cord. 43 (11): 631–4. doi:10.1038/sj.sc.3101758. PMID 15968305.
  13. 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.
  14. Schneider R (2013). "Autoantibodies to Potassium Channel KIR4.1 in Multiple Sclerosis". Frontiers in Neurology. 4: 125. doi:10.3389/fneur.2013.00125. PMC 3759297. PMID 24032025.
  15. Kurosawa K, Fujihara K (November 2014). "[Clinical concept, etiology and pathology of neuromyelitis optica]". Nihon Rinsho. Japanese Journal of Clinical Medicine. 72 (11): 1897–902. PMID 25518368.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. Poser CM, Brinar VV (October 2007). "Disseminated encephalomyelitis and multiple sclerosis: two different diseases – a critical review". Acta Neurologica Scandinavica. 116 (4): 201–6. doi:10.1111/j.1600-0404.2007.00902.x. PMID 17824894.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.