Allameen Nur Azizah, Ramos-Lisbona Ana Isabel, Wedderburn Lucy R, Lundberg Ingrid E, Isenberg David A
Rheumatology Service, Department of Medicine, Woodlands Health, Singapore, Singapore.
Department of Rheumatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Nat Rev Rheumatol. 2025 Jan;21(1):46-62. doi: 10.1038/s41584-024-01188-4. Epub 2024 Nov 28.
Myositis-specific autoantibodies (MSAs) have become pivotal biomarkers for idiopathic inflammatory myopathies and have revolutionized understanding of the heterogeneous disease spectrum that affects both adults and children. The discovery and characterization of MSAs have substantially enhanced patient stratification based on clinical phenotype, thereby facilitating more precise diagnosis and ultimately improving management strategies. Advances in immunoassay technologies in the past 20 years have further propelled the field forward, enabling the detection of a growing repertoire of autoantibodies with high specificity and sensitivity; however, evolving research over the past decade has revealed that even within antibody-defined subsets, considerable clinical diversity exists, suggesting a broader spectrum of disease manifestations than previously acknowledged. Challenges persist, particularly among patients who are seronegative, where the failure to identify certain rare MSAs stems from the use of diverse detection methodologies and inadequate consensus-guided standardization and validation protocols. Bridging these diagnostic gaps is crucial for optimizing patient care and refining prognostic stratification in idiopathic inflammatory myopathies.
肌炎特异性自身抗体（MSAs）已成为特发性炎症性肌病的关键生物标志物，并彻底改变了对影响成人和儿童的异质性疾病谱的认识。MSAs的发现和特征描述极大地增强了基于临床表型的患者分层，从而有助于更精确的诊断，并最终改善管理策略。过去20年免疫测定技术的进步进一步推动了该领域的发展，能够检测出越来越多具有高特异性和敏感性的自身抗体；然而，过去十年不断发展的研究表明，即使在抗体定义的亚组中，也存在相当大的临床多样性，这表明疾病表现谱比以前认识的更广泛。挑战依然存在，特别是在血清阴性患者中，无法识别某些罕见的MSAs是由于使用了多种检测方法以及缺乏共识指导的标准化和验证方案。弥合这些诊断差距对于优化特发性炎症性肌病的患者护理和完善预后分层至关重要。
