Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Clin Rheumatol. 2021 Oct;40(10):4095-4100. doi: 10.1007/s10067-021-05730-7. Epub 2021 Apr 13.
We analyzed the prevalence of anti-mitochondrial autoantibodies (AMA) in adult- and juvenile-onset myositis longitudinal cohorts and investigated phenotypic differences in myositis patients with AMA. We screened sera from myositis patients including 619 adult- and 371 juvenile-onset dermatomyositis (DM, JDM), polymyositis (PM, JPM), inclusion body myositis (IBM), or amyopathic DM patients and from healthy controls, including 164 adults and 92 children, for AMA by ELISA. Clinical characteristics were compared between myositis patients with and without AMA. AMA were present in 5% of adult myositis patients (16 of 216 DM, 10 of 222 PM, 4 of 140 IBM, 1 of 19 amyopathic DM), 1% of juvenile myositis patients (3 of 302 JDM, 1 of 25 JPM), and 1% of both adult and juvenile healthy controls. In patients with adult-onset myositis, AMA were associated with persistent muscle weakness, Raynaud's phenomenon, dysphagia, and cardiomyopathy. Adult myositis patients with AMA may have more severe or treatment refractory disease, as they more frequently received glucocorticoids and intravenous immunoglobulin. In juvenile myositis, children with AMA often had falling episodes and dysphagia, but no other clinical features or medications were significantly associated with AMA. AMA are present in 5% of adult myositis patients and associated with cardiomyopathy, dysphagia, and other signs of severe disease. The prevalence of AMA is not increased in patients with juvenile myositis compared to age-matched healthy controls. Our data suggest that the presence of AMA in adult myositis patients should prompt screening for cardiac and swallowing involvement. Key Points • Approximately 5% of a large North American cohort of adult myositis patients have anti-mitochondrial autoantibodies. • Adults with anti-mitochondrial autoantibodies often have chronic weakness, Raynaud's, dysphagia, cardiomyopathy, and more severe disease. • Anti-mitochondrial autoantibodies are rare in juvenile myositis and not associated with a specific clinical phenotype.
我们分析了成人和青少年发病肌炎纵向队列中抗线粒体自身抗体（AMA）的流行情况，并研究了 AMA 阳性肌炎患者的表型差异。我们通过 ELISA 法筛查了包括 619 例成人发病皮肌炎（DM，JDM）、多发性肌炎（PM，JPM）、包涵体肌炎（IBM）或无肌病性 DM 患者和 371 例青少年发病 DM（JDM）、222 例 PM、140 例 IBM 和 19 例无肌病性 DM 患者以及 164 例成人和 92 例儿童健康对照者的血清中 AMA。比较了 AMA 阳性和阴性肌炎患者的临床特征。成人肌炎患者 AMA 阳性率为 5%（16/216 DM、10/222 PM、4/140 IBM、1/19 无肌病性 DM），青少年肌炎患者 AMA 阳性率为 1%（3/302 JDM、1/25 JPM），成人和青少年健康对照者 AMA 阳性率均为 1%。在成人发病肌炎患者中，AMA 与持续性肌无力、雷诺现象、吞咽困难和心肌病相关。有 AMA 的成人肌炎患者可能患有更严重或治疗抵抗的疾病，因为他们更频繁地接受糖皮质激素和静脉注射免疫球蛋白。在青少年肌炎中，有 AMA 的儿童常发生跌倒和吞咽困难，但其他临床特征或药物与 AMA 无明显相关性。AMA 存在于 5%的成人肌炎患者中，与心肌病、吞咽困难和其他严重疾病的体征相关。与年龄匹配的健康对照者相比，青少年肌炎患者 AMA 的患病率并未增加。我们的数据表明，成人肌炎患者 AMA 的存在应提示筛查心脏和吞咽受累。要点 • 大约 5%的北美大型成人肌炎患者队列存在抗线粒体自身抗体。 • 抗线粒体自身抗体阳性的成年人常出现慢性无力、雷诺现象、吞咽困难、心肌病和更严重的疾病。 • 抗线粒体自身抗体在青少年肌炎中罕见，与特定的临床表型无关。
