Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Department of Neurology, Mayo Clinic, Rochester, MN.
Clin Chem. 2022 Sep 1;68(9):1134-1150. doi: 10.1093/clinchem/hvac061.
Multiple sclerosis (MS) is an immune-mediated central nervous system (CNS) inflammatory demyelinating disease in which analysis of clinical presentation, imaging studies, and laboratory tests aid in diagnosis.
This review discusses laboratory tests ordered to rule out and rule in MS, such as the traditional measurement of cerebrospinal fluid (CSF) IgG index and oligoclonal bands. Biomarkers discovered in the past 2 decades, such as aquaporin-4 (AQP4) antibodies and myelin oligodendrocyte glycoprotein (MOG) antibodies, have been incorporated into clinical practice in the diagnosis of disorders referred to as MS mimics. The importance of test selection, assay methodology, optimal sample for testing, and diagnostic utility of these biomarkers is reviewed. Other laboratory testing that can aid in the differentiation between MS and these biomarker-defined CNS demyelinating diseases is described. There is a focus on emerging biomarkers such as the use of kappa immunoglobulin free light chain concentration in CSF and kappa CSF index measurement as an alternative to oligoclonal bands which has a potential for an improvement in laboratory workflows. Finally, the role of biomarkers of disease activity and prognosis are discussed, including neurofilament light chain, glial fibrillary acidic protein, and myelin basic protein. Future perspectives with improved laboratory testing tools and discovery of additional biomarkers are provided.
Laboratory testing for demyelinating disorders using CSF and serum are routine practices that can benefit from an update, as novel biomarker-defined entities have reduced the potential for MS misdiagnosis, and CSF/serum biomarkers reinstated in the diagnostic criteria of MS.
多发性硬化症（MS）是一种免疫介导的中枢神经系统（CNS）炎症性脱髓鞘疾病，通过分析临床表现、影像学研究和实验室检查来辅助诊断。
本文讨论了为排除和诊断 MS 而开具的实验室检查，如传统的脑脊液（CSF）IgG 指数和寡克隆带的测量。在过去的 20 年中发现的生物标志物，如水通道蛋白-4（AQP4）抗体和髓鞘少突胶质细胞糖蛋白（MOG）抗体，已被纳入 MS 模拟障碍的诊断标准中。本文回顾了这些生物标志物的检测选择、检测方法、最佳检测样本以及诊断效用的重要性。还描述了其他有助于区分 MS 和这些基于生物标志物的 CNS 脱髓鞘疾病的实验室检查。本文重点介绍了新兴的生物标志物，如 CSF 中κ免疫球蛋白游离轻链浓度和κ CSF 指数测量替代寡克隆带的方法，这有可能改进实验室工作流程。最后，讨论了疾病活动和预后的生物标志物的作用，包括神经丝轻链、神经胶质酸性蛋白和髓鞘碱性蛋白。本文还提供了对改善实验室检测工具和发现更多生物标志物的未来展望。
使用 CSF 和血清进行脱髓鞘疾病的实验室检测是常规做法，需要进行更新，因为新的基于生物标志物的疾病实体减少了 MS 误诊的可能性，CSF/血清生物标志物也重新纳入了 MS 的诊断标准。
