Division of Clinical Immunology, Faculty of Medicine, University of Debrecen, Móricz Zs. krt. 22, 4032 Debrecen, Hungary.
Division of Rheumatology, Faculty of Medicine, University of Debrecen, Móricz Zs. krt. 22, 4032 Debrecen, Hungary.
Biomed Res Int. 2022 May 2;2022:6251232. doi: 10.1155/2022/6251232. eCollection 2022.
Overlap myositis is a distinct subgroup of idiopathic inflammatory myositis (IIM) with various clinical phenotypes. The aim of this study was to determine the clinical, serological, and genetic features of systemic sclerosis (SSc)-IIM overlap patients. It was a retrospective study using clinical database of 39 patients, fulfilling both the criteria of SSc and IIM. 56.4% of the patients had limited cutaneous, 43.6% had diffuse cutaneous SSc, whereas 7.7% of the patients had dermatomyositis and 92.3% polymyositis. The two diseases occurred simultaneously in 58.97%, while 10.26% in myositis and 30.77% in scleroderma were initially diagnosed. The frequencies of organ involvement were interstitial lung disease 71.8%, dysphagia 66.7%, cardiac involvement 41%, pulmonary arterial hypertension (PAH) 30.8%, and renal involvement 12.8%, respectively. The presence of human leukocyte antigen (HLA) - DRB1∗03 and DQA1∗051∗01 alleles were significantly higher in the overlap patients than in healthy controls (82.35% vs. 27.54%; < 0.0001 and 88.24% vs. 30.16; < 0.0001). Certain clinical parameters, such as fever at diagnosis (41.67% vs. 7.41%, = 0.0046), cardiac involvement (83.33% vs. 22.22%, = 0.0008), subcutaneous calcinosis (41.66 vs. 11.11, = 0.01146), and claw hand deformity (25% vs. 11.11%, = 0.00016) were significantly associated with the presence of PAH. Upon comparison, the overlap patients and anti-Jo-1 positive antisynthetase patients showed similarities in terms of genetic results and major clinical features; however, SSc-IIM overlap patients could be distinguished with higher erythrocyte sedimentation rate (ESR) level, more frequent presence of Raynaud's phenomenon ( < 0.0001; OR: 20.00), dysphagia ( < 0.0001; OR: 15.63), and infrequent livedo reticularis ( < 0.01; OR: 0.11). SSc-IIM overlap myositis is a unique group within IIM-s possessing characteristic clinical features.
重叠性肌炎是特发性炎性肌病（IIM）的一个明确亚组，具有各种临床表型。本研究的目的是确定系统性硬化症（SSc）-IIM 重叠患者的临床、血清学和遗传特征。这是一项回顾性研究，使用了 39 名符合 SSc 和 IIM 标准的患者的临床数据库。56.4%的患者为局限性皮肤硬皮病，43.6%为弥漫性皮肤硬皮病，7.7%的患者为皮肌炎，92.3%为多发性肌炎。两种疾病同时发生的频率为 58.97%，而肌炎和硬皮病分别有 10.26%和 30.77%是最初诊断的。器官受累的频率分别为间质性肺病 71.8%，吞咽困难 66.7%，心脏受累 41%，肺动脉高压（PAH）30.8%和肾脏受累 12.8%。重叠患者 HLA-DRB1∗03 和 DQA1∗051∗01 等位基因的存在明显高于健康对照组（82.35% vs. 27.54%；<0.0001 和 88.24% vs. 30.16；<0.0001）。某些临床参数，如诊断时发热（41.67% vs. 7.41%，=0.0046）、心脏受累（83.33% vs. 22.22%，=0.0008）、皮下钙化（41.66% vs. 11.11%，=0.01146）和爪形手畸形（25% vs. 11.11%，=0.00016）与 PAH 的存在显著相关。相比之下，重叠患者和抗 Jo-1 阳性抗合成酶患者在遗传结果和主要临床特征方面具有相似性；然而，通过更高的红细胞沉降率（ESR）水平、更频繁的雷诺现象（<0.0001；OR：20.00）、吞咽困难（<0.0001；OR：15.63）和较少的网状青斑（<0.01；OR：0.11）可以区分 SSc-IIM 重叠患者。SSc-IIM 重叠性肌炎是 IIM 中具有特征性临床特征的独特亚群。
