Neuromyelitis optica

Andrea Dellaria MD (

Dr. Dellaria of Northwest Neurology has no relevant financial relationships to disclose.

)
Adil Javed MD PhD (

Dr. Javed of the University of Chicago has received honorariums or consulting fees from Biogen, Genetech, Genzyme, Novartis, and Serono for speaking engagements or consulting work.

)
Anthony T Reder MD, editor. (

Dr. Reder of the University of Chicago served on advisory boards and as a consultant for Bayer, Biogen Idec, Caremark Rx, Genentech, Genzyme, Novartis, Mallinckrodt, Mylan, Serono, and Teva-Marion.

)
Originally released June 16, 1997; last updated April 4, 2019; expires April 4, 2022

This article includes discussion of neuromyelitis optica, NMO, NMOSD, and Devic disease. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Neuromyelitis optica, historically known as Devic disease, is a CNS inflammatory disease. It is a devastating disease and leaves many patients with permanent vision loss and paralysis. Neuromyelitis optica is thought to be caused by abnormal activity of B cells, although studies suggest an important role of T cells as well. Most neuromyelitis optica patients have elevated levels of an IgG antibody to a water channel called aquaporin-4 (NMO-IgG). This antibody has been hypothesized to be disease-causing because it can fix complement and, thus, can cause tissue destruction. However, not all patients have the anti-aquaporin-4 antibody. Some patients identified as having a clinical phenotype consistent with a diagnosis of neuromyelitis optica who lack the AQP4 antibody are seropositive for myelin oligodendrocyte glycoprotein antibody. The presence of patients with similar clinical phenotype and different antibody status underlies the broadening of the nomenclature from neuromyelitis optica to neuromyelitis optica spectrum disorder. This allows for a neuromyelitis optica diagnosis in patients who are AQP4 seronegative and indicates that other antibodies may play a pathogenic role in these phenotypes. Patients presenting with neuromyelitis optica must be identified early and treated urgently to reduce disability. Disability in neuromyelitis optica is relapse driven, and treatment at the onset of the first relapse is important. The authors review literature regarding the pathology of neuromyelitis optica and available treatment options. They explain the diagnostic criteria, treatment, and prognosis of neuromyelitis optic spectrum disorder. New updates include 2015 IPND consensus criteria to broaden the diagnostic term to neuromyelitis optica spectrum disorder and to group patients on the basis of antibody status. Other updates include differences among patients who are seropositive and seronegative for AQP4 antibody, including the subcategory of AQP4 negative patients who are positive for myelin oligodendrocyte glycoprotein antibody, current treatments, and issues related to pregnancy.

Key points

 

• New diagnostic criteria 2015: the term neuromyelitis optica spectrum disorder (NMOSD) is used to encompass core clinical features including optic neuritis, transverse myelitis, brainstem syndrome, area postrema syndrome, diencephalic syndrome, and cerebral syndrome. A distinction is made between patients who are AQ4-positive versus patients who are AQ4-negative.

 

• The discovery of the pathogenic role of myelin oligodendrocyte antibody in patients with seronegative neuromyelitis optica spectrum disorder indicates that neuromyelitis optica spectrum disorder is a more heterogenous condition than previously thought.

 

• Pregnancy is a significant factor for consideration when treating women with neuromyelitis optica. Unlike multiple sclerosis, disease activity does not decrease during pregnancy and can leave women with severe disability. Treatment approach should be individualized.

 

• New therapies are being studied for prevention of neuromyelitis optica relapses using monoclonal antibodies that target IL-6, CD-19, CD-20, AQ4 autoantibodies, and complement. The current therapies being used for prophylactic treatment of neuromyelitis optica include rituximab, mycophenolate mofetil, and azathioprine.

 

• Aggressive treatment at the onset of a relapse, including steroids, plasma exchange, and early initiation of prophylactic therapy leads to better recovery for patients with neuromyelitis optica.

Historical note and terminology

Thomas Albutt is given credit for initially describing the syndrome now called neuromyelitis optica (Albutt 1870). Albutt observed that some patients with myelitis had co-existent funduscopic abnormalities, and these patients tended to have a more severe disease course. Eugene Devic, a French physician, was initially interested in studying typhoid fever. But Devic s eponymic distinction later emerged after he summarized the known cases of neuromyelitis optica along with his own observations in 1894 and presented them at the French Congress of Medicine in Lyon, coining the terms “neuro-myélite” and “neuroptico-myélite” (Devic 1894). In 1907, the term Devic disease was first used, and since then, Devic s name has been associated with this disease.

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