Aquaporin-4-IgG positive neuromyelitis optica spectrum disorder and systemic autoimmune diseases overlap syndrome: a single-center experience

Abstract

To describe the clinical and radiological characteristics and outcomes of patients with aquaporin-4-immunoglobulin G (AQP4-IgG) seropositive neuromyelitis optica spectrum disorder (NMOSD) coexisting with systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) in a single center. We included patients with diagnosis of NMOSD and a concomitant diagnosis of SLE or pSS. Demographic, clinical, serological and imaging characteristics were retrieved from clinical charts. Twelve patients were included, of whom 11 (91.7%) were women. Seven (58.3%) had SLE and five (41.7%) pSS. In five (41.7%) patients NMOSD followed SLE/pSS onset, four (33.3%) patients had a simultaneous presentation, and in three (25%) NMOSD preceded pSS onset. The mean age at first neurological event was 39 years. Eleven patients (91.7%) experienced acute transverse myelitis/longitudinally extensive transverse myelitis, five (41.7%) optic neuritis, three (25%) a cerebral syndrome and two (16.7%) each area postrema syndrome, acute brainstem syndrome and cerebellar syndrome. Eleven (91.7%) patients went into either total or partial NMOSD remission at median follow-up of 89.5 months. AQP4-IgG seropositive NMOSD arose in the context of quiescent SLE and pSS with extraglandular features. As NMOSD coexisting with SLE/pSS is rare, collaborative multicenter studies are needed to clarify the natural history and outcomes of this overlap syndrome.