Peng Jason, Alrifai Nada, DeSimone Salvatore D, Gentile Pietro M, Traisak Pamela, Karpoff Marisa, Feinstein David, Eid Hala, DeSimone Joseph D
Medical School, Cooper Medical School of Rowan University, Camden, USA.
Rheumatology, Cooper University Hospital, Camden, USA.
Cureus. 2025 May 8;17(5):e83723. doi: 10.7759/cureus.83723. eCollection 2025 May.
Systemic lupus erythematosus (SLE) is a complex autoimmune disease with significant morbidity and mortality. Early diagnosis is crucial for effective management. Ocular manifestations, particularly optic neuritis (ON), have emerged as potential early signs of SLE. This systematic literature review analyzes 23 studies, including eight retrospective studies, five cross-sectional studies, two cohort studies, four case reports, one narrative review, and three systematic literature reviews, to investigate the use of ON in diagnosing SLE and differentiating it from other autoimmune diseases, most notably multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). A comprehensive literature search was conducted by combining various keywords and MeSH terms, focusing on autoimmune diseases, ON, MS, NMOSD, and SLE. The final selection of 23 studies reflected a methodologically diverse body of literature, enhancing the review's robustness. SLE-associated ON is rare but distinctive, occurring in 1% of SLE patients and often presenting bilaterally with severe visual impairment and intense pain. Recovery of visual acuity is less common in SLE-associated ON compared to idiopathic ON and multiple sclerosis. Diagnostic challenges arise due to overlapping clinical features with NMOSD and MS. Various studies have highlighted the significance of specific antibody profiles, such as anti-aquaporin-4 IgG, in distinguishing between these conditions. Additionally, neuroimaging findings, including MRI characteristics, play a pivotal role in differentiation. SLE patients may exhibit unique lesion patterns spanning multiple vertebral bodies. Dermatological manifestations, genetic factors, and blood biomarkers, such as semaphorins and complement levels, also offer diagnostic insights. This systematic review underscores the importance of integrating clinical, laboratory, and radiologic imaging data for precise diagnosis and differentiation of SLE, NMOSD, and MS when encountering ON in clinical practice. These findings contribute to the development of concrete diagnostic criteria for SLE using ON as an early symptom, facilitating faster diagnosis and more efficient management of this debilitating autoimmune disease.
系统性红斑狼疮(SLE)是一种复杂的自身免疫性疾病,具有较高的发病率和死亡率。早期诊断对于有效治疗至关重要。眼部表现,尤其是视神经炎(ON),已成为SLE潜在的早期迹象。本系统文献综述分析了23项研究,包括8项回顾性研究、5项横断面研究、2项队列研究、4例病例报告、1篇叙述性综述和3篇系统文献综述,以探讨ON在诊断SLE以及将其与其他自身免疫性疾病(最显著的是多发性硬化症(MS)和视神经脊髓炎谱系障碍(NMOSD))相鉴别中的应用。通过组合各种关键词和医学主题词进行了全面的文献检索,重点关注自身免疫性疾病、ON、MS、NMOSD和SLE。最终选定的23项研究反映了一批方法多样的文献,增强了综述的稳健性。与SLE相关的ON较为罕见但具有独特性,在1%的SLE患者中出现,常双侧发病,伴有严重视力损害和剧痛。与特发性ON和多发性硬化症相比,SLE相关ON患者视力恢复的情况较少见。由于与NMOSD和MS存在重叠的临床特征,导致诊断存在挑战。各种研究强调了特定抗体谱(如抗水通道蛋白4 IgG)在区分这些疾病中的重要性。此外,神经影像学检查结果,包括MRI特征,在鉴别诊断中起着关键作用。SLE患者可能表现出跨越多个椎体的独特病变模式。皮肤表现、遗传因素以及血液生物标志物(如信号素和补体水平)也有助于诊断。本系统综述强调了在临床实践中遇到ON时,整合临床、实验室和放射影像学数据对于准确诊断和鉴别SLE、NMOSD和MS的重要性。这些发现有助于制定以ON为早期症状的SLE具体诊断标准,促进对这种使人衰弱的自身免疫性疾病的更快诊断和更有效管理。