Clinical and Academic Rheumatology, North Bristol NHS Trust, Southmead Hospital, Bristol, BS10 5NB, UK.
Clin Rev Allergy Immunol. 2017 Feb;52(1):45-57. doi: 10.1007/s12016-015-8513-8.
The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.
特发性炎性肌病(IIM)是一组自身免疫性疾病,传统上通过临床表现定义,包括骨骼肌无力、皮疹、骨骼肌酶升高以及神经生理学和/或肌肉炎症的组织学证据。重叠性肌炎患者可能会出现其他特征,包括实质肺疾病、炎性关节炎、胃肠道表现和明显的全身症状。尽管患者可能根据 IIM 谱被诊断为多发性肌炎(PM)或皮肌炎(DM),但很明显,不同患者亚组的疾病病程不同。例如,间质性肺病可能在某些患者中占主导地位,而皮肤并发症、癌症风险或严重难治性肌病可能是其他患者的重要特征。因此,有助于诊断并指示哪些患者需要更详细调查疾病并发症的工具在临床实践中非常宝贵。过去几年中,与结缔组织病(CTD)-肌炎重叠相关的自身抗体(autoAbs)的扩展领域引起了极大的兴趣。通过免疫诊断方法,可以将这组异质性疾病分为若干不同的临床表型。我们可以定义综合征来区分疾病亚组,而不是简单地将患者诊断为患有 PM、DM 或重叠 CTD,以强调临床结果并指导管理。现在已经在具有各种临床表现的患者中发现了超过 15 种 CTD-肌炎重叠自身抗体,包括间质性肺炎、皮肤疾病、癌症相关肌炎和自身免疫介导的坏死性肌病。这篇综述描述了它们的诊断效用、在疾病监测和治疗反应中的潜在作用。在未来,这些 autoAb 的常规使用将允许对这组复杂疾病进行分层管理。