Neuromyelitis optica

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By Tiffani Stroup DO and Adil Javed MD PhD

Neuromyelitis optica, also known as Devic disease, affects either the optic nerves or spinal cord, or both.  It may be misdiagnosed as multiple sclerosis and vice versa-ed.

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.

In This Article

Historical note and nomenclature
Clinical manifestations
Clinical vignette
Pathogenesis and pathophysiology
Differential diagnosis
Diagnostic workup
Prognosis and complications
References cited