系统性红斑狼疮伴抗磷脂抗体阳性及双阴性视神经脊髓炎谱系疾病1例报道

Systemic lupus erythematosus with positive antiphospholipid antibody and double-seronegative neuromyelitis optica spectrum disorder: A case report

摘要:

该文报道了系统性红斑狼疮（SLE）、可能抗磷脂综合征（APS）与视神经脊髓炎谱系疾病（NMOSD）在同一患者体内的重叠表现，并探讨三者可能的关联机制。患者，女性，57岁，病程可分为3个阶段：第一阶段表现为反复血小板减少，伴高滴度抗心磷脂抗体阳性；第二阶段出现双眼视力进行性下降直至失明，眼底检查可见双眼视神经萎缩，视神经磁共振成像（MRI）及脊髓MRI提示脱髓鞘病变；第三阶段则表现为双下肢麻木、皮肤瘀点及多系统受累，免疫学检查证实抗核抗体、抗双链DNA抗体及抗SSA抗体阳性。患者最终确诊为SLE合并可能APS及双阴性NMOSD。该病例显示SLE、APS及NMOSD可能通过免疫紊乱与血管损伤机制相互交织，共同促进疾病的发生发展。临床实践中，对于病程复杂且表现多样的患者，应警惕多种自身免疫病的重叠，结合临床表现、免疫学指标及影像学检查，进行全面评估和早期干预，可能有助于改善长期预后。

Abstract:

This article reports a patient with the overlapping manifestations of systemic lupus erythematosus （SLE）， suspected antiphospholipid syndrome （APS）， and neuromyelitis optica spectrum disorder （NMOSD） and discusses the potential mechanisms linking these three conditions. A female patient， （57 years old）， experienced a disease course that could be divided into three stages. The first stage was characterized by recurrent thrombocytopenia with high-titer anticardiolipin antibody positivity； in the second stage， the patient developed progressive visual decline in both eyes， which further lead to blindness； fundus examination showed optic atrophy in both eyes， while optic nerve and spinal magnetic resonance imaging showed demyelinating lesions； in the third stage， the patient presented with bilateral lower limb numbness， cutaneous petechiae， and multisystem involvement， and immunological testing confirmed positivity for antinuclear antibody， anti-double stranded DNA antibody， and anti-SSA antibody. The patient was finally diagnosed with SLE comorbid with suspected APS and double-seronegative NMOSD. This case highlights that SLE， suspected APS， and NMOSD may interact with each other through the mechanisms of immune dysregulation and vascular injury， collectively contributing to the development and progression of the disease. In clinical practice， the possibility of overlapping autoimmune disorders should be considered for patients with a complex disease course and various manifestations， and clinical manifestations， immunological indicators， and imaging examinations should be used for comprehensive assessment and early intervention， so as to improve the long-term prognosis of patients.