背景:髓磷脂少突胶质细胞糖蛋白抗体相关疾病(MOGAD)是一种最近定义的脱髓鞘疾病,具有快速发展的临床谱。最近,已经提出了共识标准(Banwell等人。,2023)帮助疾病诊断。然而,缺乏对现实生活中MOGAD患者的拟议标准的验证。在这项研究中,我们将提出的标准应用于MOG抗体阳性患者的机构队列.
方法:于2018年至2023年在三级神经免疫学诊所进行了一项回顾性研究。包括具有MOGAD的至少一个核心临床特征和通过基于细胞的测定的阳性血清MOG抗体的患者。记录并分析人口统计学和临床数据。案件分为明确的MOGAD,可疑的MOGAD,以及由治疗神经免疫学和/或神经眼科专家在应用新的MOGAD标准之前由独立研究者确定的假阳性MOG抗体。然后我们计算了灵敏度,特异性,正预测值,与治疗医生评估相比,新标准的阴性预测值。
结果:共纳入27例患者,19人(70.4%)为女性,样本的平均年龄为44+/-15岁。11例患者(40.7%)发现高滴度MOG抗体(≥1:100);13例患者(48.1%)发现低滴度(<1:100),3例患者的滴度未报告。根据专家意见确定;18人(66.7%)被确定为最终的MOGAD,6(22.2%)为假阳性MOG抗体,和3(11.1%)是可疑的人群。临床医生确定为明确MOGAD的所有18例患者均符合2023年新标准。在9例MOGAD有问题或MOG抗体假阳性的患者中,4例患者符合2023年MOGAD标准.这四名患者最终诊断如下:中枢神经系统血管炎,具有活动性和进展的原发性进行性MS,假性脑瘤,和贝伐单抗在副肿瘤视网膜病变的背景下诱导的前部缺血性视神经病变。与临床医生评估相比,将2023年MOGAD标准应用于我们的机构队列产生了100%的敏感度,特异性为55.5%,阳性预测值为81.5%,阴性预测值为100%。
结论:这些发现表明,2023年MOGAD标准对明确的MOGAD的检测高度敏感,但具有适度的特异性。许多MOGAD模拟物可以类似于MOGAD的核心临床事件并且具有相似的支持性临床和MRI特征。临床医生在评估低滴度MOG抗体患者时应谨慎行事,即使他们符合2023年标准提出的额外支持特征。需要进一步的研究来评估更大的队列和儿科人群的2023标准。
BACKGROUND: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently defined demyelinating disorder with a rapidly evolving clinical spectrum. Recently, consensus criteria have been proposed (Banwell et al., 2023) to help with disease diagnosis. However, validation of the proposed criteria in real-life MOGAD patients is lacking. In this study, we applied the proposed criteria to an institutional cohort of MOG antibody-positive patients.
METHODS: A retrospective study was conducted at a tertiary neuroimmunology clinic from 2018 to 2023. Patients who had at least one core clinical feature of MOGAD and positive serum MOG antibody by cell-based assay were included. Demographics and clinical data were recorded and analyzed. Cases were divided into definite MOGAD, questionable MOGAD, and false-positive MOG antibody as determined by the treating neuroimmunology and/or neuro-ophthalmology specialists prior to applying the new MOGAD criteria by an independent investigator. We then calculated the sensitivity, specificity, positive predictive value, and negative predictive value of the new criteria compared to the treating physicians\' assessment.
RESULTS: A total of 27 patients were included of which, 19 (70.4%) were female, the average age of the sample was 44 +/- 15 years. High titer MOG antibody (≥ 1:100) was found in 11 patients (40.7%); low titer (< 1: 100) in 13 (48.1%), and unreported titer in 3 patients. As determined by expert opinion; 18 (66.7%) were identified as definitive MOGAD, 6 (22.2%) as false-positive MOG antibody, and 3 (11.1%) as questionable MOGAD. All 18 patients identified by clinicians as definite MOGAD met the new 2023 criteria. Of the 9 patients with questionable MOGAD or false-positive MOG antibody, four patients met the 2023 MOGAD criteria. Those four patients had the following final diagnoses: CNS vasculitis, primary progressive MS with activity and progression, pseudotumor cerebri, and bevacizumab-induced anterior ischemic optic neuropathy in the setting of paraneoplastic retinopathy. Compared to clinician assessment, applying the 2023 MOGAD criteria to our institutional cohort yielded a sensitivity of 100%, a specificity of 55.5%, a positive predictive value of 81.5% and a negative predictive value of 100%.
CONCLUSIONS: These findings suggest that the 2023 MOGAD criteria are highly sensitive for detection of definite MOGAD but has modest specificity. A number of MOGAD mimickers can resemble the core clinical events of MOGAD and share similar supportive clinical and MRI features. Clinicians should practice caution when evaluating patients with low titer MOG antibody even if they meet the additional supportive features proposed by the 2023 criteria. Further studies are needed to evaluate the 2023 criteria in larger cohorts and in the pediatric population.