T. Nevskaya, MD, PhD, J.E. Pope, MD, MPH, M.A. Turk, MSc, J. Shu, MD, HBSc, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.
A. Marquardt, DO, D. Khanna, MD, MS, University of Michigan, Ann Arbor, Michigan, USA.
J Rheumatol. 2021 Nov;48(11):1698-1717. doi: 10.3899/jrheum.201594. Epub 2021 May 15.
Systemic sclerosis (SSc) is a multisystem disease with heterogeneity in presentation and prognosis.An international collaboration to develop new SSc subset criteria is underway. Our objectives were to identify systems of SSc subset classification and synthesize novel concepts to inform development of new criteria.
Medline, Cochrane MEDLINE, the Cumulative Index to Nursing and Allied Health Literature, EMBASE, and Web of Science were searched from their inceptions to December 2019 for studies related to SSc subclassification, limited to humans and without language or sample size restrictions.
Of 5686 citations, 102 studies reported original data on SSc subsets. Subset classification systems relied on extent of skin involvement and/or SSc-specific autoantibodies (n = 61), nailfold capillary patterns (n = 29), and molecular, genomic, and cellular patterns (n = 12). While some systems of subset classification confer prognostic value for clinical phenotype, severity, and mortality, only subsetting by gene expression signatures in tissue samples has been associated with response to therapy.
Subsetting on extent of skin involvement remains important. Novel disease attributes including SSc-specific autoantibodies, nailfold capillary patterns, and tissue gene expression signatures have been proposed as innovative means of SSc subsetting.
系统性硬化症（SSc）是一种多系统疾病，其临床表现和预后存在异质性。目前正在进行一项国际合作，以制定新的 SSc 亚型分类标准。我们的目的是确定 SSc 亚型分类系统，并综合新的概念，为新的标准制定提供信息。
从建库到 2019 年 12 月，我们在 Medline、Cochrane MEDLINE、护理与联合健康文献累积索引、EMBASE 和 Web of Science 上检索了与 SSc 亚型分类相关的研究，仅限于人类研究，不限制语言或样本量。
在 5686 条引文中有 102 项研究报告了 SSc 亚型的原始数据。亚型分类系统依赖于皮肤受累的程度和/或 SSc 特异性自身抗体（n = 61）、甲褶毛细血管模式（n = 29）和分子、基因组和细胞模式（n = 12）。虽然一些亚型分类系统对临床表型、严重程度和死亡率具有预后价值，但只有组织样本中基因表达特征的亚型与治疗反应相关。
皮肤受累程度的亚型仍然很重要。新型疾病特征，包括 SSc 特异性自身抗体、甲褶毛细血管模式和组织基因表达特征，已被提议作为 SSc 亚型分类的创新手段。
