University of Calgary Cumming School of Medicine, Department of Medicine, Calgary, AB, Canada.
University of Calgary Cumming School of Medicine, Department of Clinical Neurosciences, Foothills Medical Centre, Room C1224, 1403 - 29 Street N.W., Calgary T2N 2T9, AB, Canada.
Mult Scler Relat Disord. 2019 Feb;28:125-128. doi: 10.1016/j.msard.2018.12.028. Epub 2018 Dec 20.
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune syndrome characterized by optic nerve and spinal cord inflammation. In recent years, there has been increasing awareness of NMOSD presenting concurrently with other autoimmune diseases, including myasthenia gravis (MG), systemic lupus erythematosus (SLE), Sjögren's syndrome, and sarcoidosis, among others. Whether these diseases coexist in patients due to shared susceptibility to multiple autoimmune conditions as a result of a genetic tendency toward humoral autoimmunity, or whether systemic rheumatologic diseases facilitate some aspect of NMOSD pathogenesis remains an open question. Here, we describe two cases of NMOSD presenting with concurrent autoimmune disease, and highlight the clinical features and diagnostic challenges of each case. Our first patient had aquaporin-4 antibody-positive NMOSD with concurrent hypothyroidism, SLE, and muscle specific kinase antibody-positive MG. Our second patient had seronegative NMOSD with concurrent acetylcholine receptor antibody-positive MG. Practitioners should be aware of the potential for patients to present with a combination of NMOSD and one or more concurrent autoimmune diseases to ensure timely diagnosis and appropriate treatment.
视神经脊髓炎谱系疾病(NMOSD)是一种自身免疫综合征,其特征为视神经和脊髓炎症。近年来,人们越来越意识到 NMOSD 可与其他自身免疫性疾病同时发生,包括重症肌无力(MG)、系统性红斑狼疮(SLE)、干燥综合征和结节病等。这些疾病是否因患者存在多种自身免疫性疾病的易感性而共同存在,这是由于体液自身免疫的遗传倾向,还是系统性风湿性疾病促进了 NMOSD 发病机制的某个方面,这仍是一个悬而未决的问题。在这里,我们描述了两例同时发生自身免疫性疾病的 NMOSD 病例,并强调了每个病例的临床特征和诊断挑战。我们的第一位患者患有水通道蛋白-4 抗体阳性 NMOSD,同时患有甲状腺功能减退症、SLE 和肌肉特异性激酶抗体阳性 MG。我们的第二位患者患有血清阴性 NMOSD,同时患有乙酰胆碱受体抗体阳性 MG。临床医生应该意识到患者可能同时出现 NMOSD 和一种或多种同时存在的自身免疫性疾病,以确保及时诊断和适当治疗。