Neuromyelitis optica

Tiffani Stroup DO (Dr. Stroup of the University of Chicago has no relevant financial relationships to disclose.)
Adil Javed MD PhD (Dr. Javed of the University of Chicago has received consultant fees from Teva, Bayer, Novartis, Questcor and Biogen.)
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, Malinkrodt, Serono, and Teva-Marion.)
Originally released June 16, 1997; last updated October 29, 2015; expires October 29, 2018

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

Overview

Neuromyelitis optica, also 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. Hence, other pathological mechanisms must exist that are responsible for tissue destruction. Patients presenting with neuromyelitis optica must be treated urgently with aggressive measures, as described later. Also, these patients must be recognized early in the disease course. Disability in neuromyelitis optica is relapse driven. Hence, early treatment at the onset of the first relapse is important. The authors review literature regarding the pathology of neuromyelitis optica and available treatment options, including their own observations. They explain the diagnostic criteria, treatment, and prognosis of neuromyelitis optica. New updates include a review of the sensitivity and specificity of current available lab tests, prevalence of coexisting autoimmunity, clinical presentations beyond optic neuritis and transverse myelitis, imaging characteristics of neuromyelitis optica lesions, mechanisms of pathogenesis, and current treatments.

Key points

 

• New diagnostic criteria 2014: 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.

 

• New laboratory assays with greater sensitivity have been developed for neuromyelitis optica.

 

• Neuromyelitis optica is not an isolated B cell disease; there is an increasing evidence for the role of T cells and T and B cell interactions in the pathogenesis of neuromyelitis optica.

 

• 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. However, no controlled trials exist to guide relative efficacy, dosing, or duration of these medications.

 

• 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. Devic concluded his original observations with 2 questions that remain valid today: Why such a peculiar localization of pathology? What is the intimate nature of the process? The answer to these questions still remains elusive.

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