Lundberg I E, Miller F W, Tjärnlund A, Bottai M
Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden.
National Institute of Environmental Health Sciences, National Institutes of Health Clinical Research Center, Bethesda, MD, USA.
J Intern Med. 2016 Jul;280(1):39-51. doi: 10.1111/joim.12524.
The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of diseases, collectively termed myositis, sharing symptoms of muscle weakness, fatigue and inflammation. Other organs are frequently involved, supporting the notion that these are systemic inflammatory diseases. The IIMs can be subgrouped into dermatomyositis, polymyositis and inclusion body myositis. The myositis-specific autoantibodies (MSAs) identify other and often more distinct clinical phenotypes, such as the antisynthetase syndrome with antisynthetase autoantibodies and frequent interstitial lung disease and anti-SRP and anti-HMGCR autoantibodies that identify necrotizing myopathy. The MSAs are important both to support myositis diagnosis and to identify subgroups with different patterns of extramuscular organ involvement such as interstitial lung disease. Another cornerstone in the diagnostic procedure is muscle biopsy to identify inflammation and to exclude noninflammatory myopathies. Treatment effect and prognosis vary by subgroup. To develop new and better therapies, validated classification criteria that identify distinct subgroups of myositis are critical. The lack of such criteria was the main rationale for the development of new classification criteria for IIMs, which are summarized in this review; the historical background regarding previous diagnostic and classification criteria is also reviewed. As the IIMs are rare diseases with a prevalence of 10 in 100 000 individuals, an international collaboration was essential, as was the interdisciplinary effort including experts in adult and paediatric rheumatology, neurology, dermatology and epidemiology. The new criteria have been developed based on data from more than 1500 patients from 47 centres worldwide and are based on clinically easily available variables.
特发性炎性肌病(IIM)是一组异质性疾病,统称为肌炎,具有肌肉无力、疲劳和炎症等共同症状。其他器官也常受累,这支持了这些疾病是系统性炎性疾病的观点。IIM可细分为皮肌炎、多发性肌炎和包涵体肌炎。肌炎特异性自身抗体(MSA)可识别其他且往往更具特征性的临床表型,如伴有抗合成酶自身抗体及常见间质性肺病的抗合成酶综合征,以及识别坏死性肌病的抗信号识别颗粒(SRP)和抗3-羟基-3-甲基戊二酰辅酶A还原酶(HMGCR)自身抗体。MSA对于支持肌炎诊断以及识别具有不同肌肉外器官受累模式(如间质性肺病)的亚组都很重要。诊断过程中的另一个基石是肌肉活检,以识别炎症并排除非炎性肌病。治疗效果和预后因亚组而异。为了开发新的更好的治疗方法,能够识别肌炎不同亚组的经过验证的分类标准至关重要。缺乏此类标准是制定IIM新分类标准的主要理由,本综述对此进行了总结;同时也回顾了以往诊断和分类标准的历史背景。由于IIM是罕见病,患病率为十万分之十,国际合作至关重要,跨学科努力也同样重要,包括成人和儿童风湿病学、神经病学、皮肤病学和流行病学领域的专家。新的标准是基于来自全球47个中心的1500多名患者的数据制定的,并且基于临床上易于获得的变量。