Background/Purpose: The coexistence of neuromyelitis optica spectrum disorder (NMOSD) with other systemic autoimmune diseases is well recognized, especially with systemic lupus erythematosus (SLE) and Sjögren syndrome (SS). However, literature is scarce, limited to case reports and multicentric case series. The objective of this study is to describe the clinical and radiological characteristics and outcomes of patients with AQP4-IgG seropositive NMOSD coexisting with SLE and SS in a single center.

Methods: This was a retrospective study that included patients with concurrent diagnosis of AQP4-IgG seropositive NMOSD according to the 2015 International Consensus Diagnostic Criteria, and SLE according to the ACR revised criteria or SS according to the AECG criteria who regularly attended a tertiary referral center in Mexico City (2003-2018). We collected demographics, clinical (neurological events, number of relapses, remission, treatment, follow-up [date of last visit to a rheumatologist and/or neurologist] and disability according to the Expanded Disability Status Scale [EDSS]), laboratory (cerebrospinal fluid (CSF) analysis) and imaging data of NMOSD, as well as clinical and serological data of the overlapping autoimmune disease. We assessed disease activity in SLE and SS using SLEDAI-2K and ESSDAI respectively, and accrual damage with the SLICC/ACR-DI and SSDDI respectively.

Results: We included 11 patients, 10 (90.9%) women with a mean age at diagnosis of 36 ± 15 years. Seven (63.6%) had SLE and 4 (36.6%) primary SS. Five (45.5%) patients had also another systemic or organ-specific autoimmune disease. In 8 (72.7%) patients NMOSD followed SLE/SS onset, 2 (18.2%) had a simultaneous presentation, and in 1 (9.1%) NMOSD preceded SS diagnosis. The mean time from diagnosis of SLE/SS to the first neurological event was 54.6 months. The mean SLEDAI-2K and ESSDAI at first neurological event was 3.1 (mainly hypocomplemetemia and high anti-dsDNA) and 14.3 points (mainly renal and peripheral nerve involvement) respectively. During follow-up, 10 patients (90.9%) experienced myelitis, 5 (45.5%) optic neuritis, 2 (18.2%) each experienced area postrema syndrome, acute brainstem syndrome and cerebral syndrome; being the median number of neurological events 4 (1-8). Three patients (27.3%) had antiphospholipid antibodies. None of the patients had pleocytosis or low CSF glucose and 3 had high CSF proteins. All patients had longitudinally extensive transverse myelitis on MRI, 3 (27.3%) optic nerve findings and 6 (54.5%) NMOSD-typical brain lesion patterns. Nine (81.8%) patients went into either total or partial NMOSD remission at a mean follow up of 6.5 ± 5.3 years. At last follow up the median EDSS, SLICC/ACR-DI and SSDDI was 2.5 (1-10), 2 (0-7) and 2 (0-3) points respectively; 4 (36.4%) patients had sequelae and 1 patient was death.

Conclusion: Patients with SLE or SS with clinical features of NMOSD should be tested for AQP4-IgG. In our cohort, AQP4-IgG seropositive NMOSD arose in the context of low SLE activity and in the context of SS with extraglandular features; and the disability and accrual damage at last follow up appeared to be mild.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/aquaporin-4-immunoglobulin-g-antibody-positive-neuromyelitis-optica-spectrum-disorder-and-systemic-autoimmune-diseases-overlap-syndrome-a-single-center-experience/