Swagat Saha https://orcid.org/0009-0009-0763-881X

Abstract

A 27-year-old female presented with a rapidly progressive demyelinating syndrome with anti aquaporin-4 (AQP4) antibodies, initially diagnosed as neuromyelitis optica spectrum disorder (NMOSD). A comprehensive evaluation, prompted by systemic symptoms including chronic polyarthralgia, bicytopenia, and a history of recurrent pregnancy loss, revealed a concurrent diagnosis of systemic lupus erythematosus (SLE), confirmed by positive antinuclear (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies. The co-occurrence of AQP4-positive NMOSD and SLE is a rare but well-documented clinical phenomenon that presents a unique diagnostic and therapeutic challenge. This also highlights the need for a thorough rheumatological assessment to identify underlying systemic autoimmune diseases in atypical neurological presentations with extra-neurological signs.

##plugins.themes.bootstrap3.article.details##

Keywords

Systemic Lupus Erythematosus, Neuromyelitis Optica Spectrum Disorder, Demyelinating Disease, Aquaporin 4 Antibodies, Overlap Syndrome, Neuroimmunology

References
1. Wingerchuk DM, Banwell B, Bennett JL, et al. International Panel for NMO Diagnosis. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015 Jul 14;85(2):177-89. doi:10.1212/WNL.0000000000001729. PMID: 26092914; PMCID:PMC4515040.
2. Huang TL, Wang JK, Chang PY, et al. Neuromyelitis Optica Spectrum Disorder: From Basic Research to Clinical Perspectives. Int J Mol Sci. 2022 Jul 18;23(14):7908. doi: 10.3390/ijms23147908. PMID: 35887254; PMCID: PMC9323454.
3. Papadopoulos MC, Verkman AS. Aquaporin 4 and neuromyelitis optica. Lancet Neurol. 2012 Jun;11(6):535-44. doi: 10.1016/S1474-4422(12)70133-3. PMID: 22608667; PMCID: PMC3678971.
4. Moulton VR, Suarez-Fueyo A, Meidan E, et al. Pathogenesis of Human Systemic Lupus Erythematosus: A Cellular Perspective. Trends Mol Med. 2017 Jul;23(7):615-635. doi: 10.1016/j.molmed.2017.05.006. PMID: 28623084; PMCID: PMC5650102.
5. Aletaha D, Neogi T, Silman AJ, et al. 2010 Rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis Rheum. 2010 Sep;62(9):2569-81. doi: 10.1002/art.27584. PMID: 20872595.
6. Nashi RA, Shmerling RH. Antinuclear Antibody Testing for the Diagnosis of Systemic Lupus Erythematosus. Med Clin North Am. 2021 Mar;105(2):387-396. doi: 10.1016/j.mcna.2020.10.003. PMID: 33589110.
7. Infantino M, Nagy E, Bizzaro N, et al. Anti-dsDNA antibodies in the classification criteria of systemic lupus erythematosus. J Transl Autoimmun. 2021 Dec 28;5:100139. doi: 10.1016/j.jtauto.2021.100139. PMID: 35028552; PMCID: PMC8741517.
8. Schwartz N, Stock AD, Putterman C. Neuropsychiatric lupus: new mechanistic insights and future treatment directions. Nat Rev Rheumatol. 2019 Mar;15(3):137-152. doi: 10.1038/s41584-018-0156-8. PMID: 30659245; PMCID: PMC8023338.
9. Bertsias GK, Boumpas DT. Pathogenesis, diagnosis and management of neuropsychiatric SLE manifestations. Nat Rev Rheumatol. 2010 Jun;6(6):358-67. doi: 10.1038/nrrheum.2010.62. PMID: 20458332.
10. Abou Raya A, Raya SA. Neuromyelitis optica spectrum disorders (NMOSD) and systemic lupus erythematosus (SLE): Dangerous duo. Int J Rheum Dis. 2024 Jan;27(1):e14973. doi: 10.1111/1756-185X.14973PMID: 37975635
11. Krett JD, Filippatou AG, Barreras P, et al. "Lupus Myelitis" Revisited: A Retrospective Single-Center Study of Myelitis Associated With Rheumatologic Disease. Neurol Neuroimmunol Neuroinflamm. 2025 Jan;12(1):e200329. doi: 10.1212/NXI.0000000000200329. PMID: 39442039; PMCID: PMC11727606
12. Asgari N, Jarius S, Laustrup H, et al. Aquaporin-4-autoimmunity in patients with systemic lupus erythematosus: A predominantly population-based study. Mult Scler. 2018 Mar;24(3):331-339. doi: 10.1177/1352458517699791. PMID: 28326889.
13. Bortoluzzi A, Silvagni E, Furini F, et al. Peripheral nervous system involvement in systemic lupus erythematosus: a review of the evidence. Clin Exp Rheumatol. 2019 Jan-Feb;37(1):146-155. PMID: 29846158
14. Jarius S, Aktas O, Ayzenberg I, et al. Neuromyelitis Optica Study Group (NEMOS). Update on the diagnosis and treatment of neuromyelits optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part I: Diagnosis and differential diagnosis. J Neurol. 2023 Jul;270(7):3341-3368. doi: 10.1007/s00415-023-11634-0. PMID: 37022481; PMCID: PMC10267280.
15. Fanouriakis A, Kostopoulou M, Andersen J, et al. EULAR recommendations for the management of systemic lupus erythematosus: 2023 update. Ann Rheum Dis. 2024 Jan 2;83(1):15-29. doi: 10.1136/ard-2023-224762. PMID: 37827694
How to Cite
Saha, S. . (2025). Systemic Lupus Erythematosus in a patient with Aquaporin 4-Positive Neuromyelitis Optica Spectrum Disorder. Archive of Clinical Cases, 12(3), 132-135. https://doi.org/10.22551/2025.48.1203.10326
Section
Case Reports

How to Cite

Saha, S. . (2025). Systemic Lupus Erythematosus in a patient with Aquaporin 4-Positive Neuromyelitis Optica Spectrum Disorder. Archive of Clinical Cases, 12(3), 132-135. https://doi.org/10.22551/2025.48.1203.10326