Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Leeds Institute of Rheumatic and Musculoskeletal Medicine, Faculty of Medicine and Health, University of Leeds, Leeds, UK.
Nat Rev Rheumatol. 2024 Jan;20(1):21-32. doi: 10.1038/s41584-023-01044-x. Epub 2023 Nov 3.
Systemic sclerosis (SSc), or scleroderma, is a rare, complex, systemic autoimmune disease of unknown aetiology, characterized by high morbidity and mortality often resulting from cardiopulmonary complications such as interstitial lung disease and pulmonary arterial hypertension. Despite substantial progress in unravelling the pathways involved in the pathogenesis of SSc and the increasing number of therapeutic targets tested in clinical trials, there is still no cure for this disease, although several proposed treatments might limit the involvement of specific organs, thereby slowing the natural history of the disease. A specific focus of recent research has been to address the plethora of unmet needs regarding the global management of SSc-related interstitial lung disease, including its pathogenesis, early diagnosis, risk stratification of patients, appropriate treatment regimens and monitoring of treatment response, as well as the definition of progression and predictors of progression and mortality. More refined stratification of patients on the basis of clinical features, molecular signatures, identification of subpopulations with distinct clinical trajectories and implementation of outcome measures for future clinical trials could also improve therapeutic management strategies, helping to avoid poor outcomes related to lung involvement.
系统性硬化症(SSc),又称硬皮病,是一种病因不明的罕见、复杂、系统性自身免疫性疾病,其发病率和死亡率均较高,常因间质性肺病和肺动脉高压等心肺并发症而导致。尽管在揭示 SSc 发病机制所涉及的途径以及在临床试验中测试的治疗靶点数量方面取得了重大进展,但该病仍无法治愈,尽管有几种拟议的治疗方法可能会限制特定器官的受累,从而减缓疾病的自然病程。最近的研究重点特别关注全球管理 SSc 相关间质性肺病方面大量未满足的需求,包括其发病机制、早期诊断、患者风险分层、适当的治疗方案和治疗反应监测,以及进展的定义以及进展和死亡率的预测因素。基于临床特征、分子特征对患者进行更精细的分层、确定具有不同临床轨迹的亚群,并为未来的临床试验实施结果衡量标准,也可以改善治疗管理策略,有助于避免与肺部受累相关的不良结局。