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

Abstract

Objective 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. Methods 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. Results 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. Conclusion 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.

Neuromyelitis optica spectrum standstill in rheumatic systemic autoimmune diseases

“…In a retrospective study conducted on Chinese patients, 43 out of 616 patients had been diagnosed by NMOSD, 89.3% of the primary SS patients with NMOSD were seropositive to AQP4 antibodies, as well as 88.9% were CSF positive for AQP4 antibodies. Primary SS associated NMOSD patients were AQP4 antibody seropositive [28]; another recent study had reported 12 patients retrospectively with seropositive NMOSD associated with SLE and SS, five (41.7%) were SS, and in three (25%) NMOSD preceded SS onset [30].…”

“…In the last two decades, some reported cases of a long segment of transverse myelitis (TM) and optic neuritis suggestive of NMOSD associated with Sjogren's syndrome or SLE [21]. In our PubMed search, most of the results were case reports, only eight observational studies were found, and most of the associations were related to SS and SLE (Table 1) [22][23][24][25][26][27][28]30].…”

“…In five (41.7%) patients NMOSD followed autoimmune onset, four (33.3%) patients had a simultaneous presentation. The mean age at the first neurological event was 39 years [30].…”

“…Although other CNS involvements as transverse myelitis (TM) and optic neuritis are less common, however, it is still one of the reported complications [39,40]. Recently, there are increasing reports of patients with SS with NMOSD manifestations and were seropositive for AQP4 antibodies, and other cases fulfilled the clinical and radiological NMOSD criteria and seronegative for AQP4 antibodies [26,30].…”

Clinical Analysis of NMOSD with Area Postrema Syndrome as Initial Symptom

“…NMOSD patients are often associated with other autoimmune diseases, such as systemic lupus erythematosus and sjogren's syndrome [19]. Studies have found thymus degeneration in NMOSD patients, which may be an important cause of systemic immune dysfunction [20].…”