Fellows Forum Case Report: Neuromyelitis Optica

Three studies in the U.S. and Europe have found that the frequency of AQP4-IgG did not differ dramatically between cases of NMOSD alone and NMOSD associated with another rheumatologic condition; both populations exhibited high proportions of seropositivity.⁴ In the absence of symptoms of NMOSD, Aquaporin-4 antibody was typically absent; however, a separate study in Greece looking at 89 patients with SLE without any neurologic disease found two patients who were seropositive for AQP4-IgG in multiple serum samples dating back as far as 11 years prior to study entry.⁵ These patients were also reevaluated for neurologic disease and subsequently obtained neuroimaging with MRI that still did not show any evidence of typical NMOSD lesions.

The primary goals of treatment of NMOSD are to recover any lost neurologic function and to prevent relapses. Most studies evaluating treatment recommendations are limited by their small sample size, and few are prospective in nature. Initial treatment to recover neurologic function is typically anchored by high-dose intravenous steroid.¹ If there is an insufficient response, then plasma exchange is pursued next. If symptoms still do not demonstrate improvement, intravenous immunoglobulins have been administered.

Long-term immunosuppression is used to prevent relapses. Multiple options exist, but rituximab is a commonly used therapy. Other considerations include azathioprine, mycophenolate mofetil, or methotrexate. A recent small-scale open-label study showed a reduction in relapse using eculizumab, an inhibitor of C5.¹

Conclusion

This is a case of a patient with well-controlled SLE who presented with rapidly progressive vision loss secondary to NMOSD. Although rare, this disease has a greater propensity to affect patients with coexisting autoimmune disease. Therefore, new visual symptoms in such patients should prompt diagnostic consideration of NMOSD.

Atul Kapila, MD, is a rheumatology fellow at Duke University Medical Center, Durham, N.C. He is a graduate of Vanderbilt University Medical Center Internal Medicine Residency, Nashville.

Tayseer Haroun, MBBS, is a rheumatology fellow at Duke University Medical Center, Durham, N.C. She is a graduate of Texas Tech University Health Sciences Center Internal Medicine Residency, Amarillo, Texas.

Jayanth Doss, MD, MPH, is an assistant professor of medicine at Duke University in the division of Rheumatology, Durham, N.C.

References

1. Jarius S, Wildemann B, Paul F. Neuromyelitis optica: Clinical features, immunopathogenesis, and treatment. Clin Exp Immunol. 2014 May;176(2):149–164.
2. Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015 Jul 14;85(2):177–189.
3. Pittock SJ, Lennon VA, de Seze J, et al. Neuromyelitis optica and non-organ-specific autoimmunity. Arch Neurol. 2008 Jan;65(1):78–83.
4. Wingerchuk DM, Weinshenker BG. The emerging relationship between neuromyelitis optica and systemic rheumatologic autoimmune disease. Mult Scler. 2012 Jan;18(1):5–10.
5. Alexopoulos H, Kampylafka EI, Fouka P, et al. Anti-aquaporin-4 autoantibodies in systemic lupus erythematosus persist for years and induce astrocytic cytotoxicity but not CNS disease. J Neuroimmunol. 2015 Dec 15;289:8–11.