Smith Vanessa, Scirè Carlo Alberto, Talarico Rosaria, Airo Paolo, Alexander Tobias, Allanore Yannick, Bruni Cosimo, Codullo Veronica, Dalm Virgil, De Vries-Bouwstra Jeska, Della Rossa Alessandra, Distler Oliver, Galetti Ilaria, Launay David, Lepri Gemma, Mathian Alexis, Mouthon Luc, Ruaro Barbara, Sulli Alberto, Tincani Angela, Vandecasteele Els, Vanhaecke Amber, Vanthuyne Marie, Van den Hoogen Frank, Van Vollenhoven Ronald, Voskuyl Alexandre E, Zanatta Elisabetta, Bombardieri Stefano, Burmester Gerd, Eurico Fonseca João, Frank Charissa, Hachulla Eric, Houssiau Frederic, Mueller-Ladner Ulf, Schneider Matthias, van Laar Jacob M, Vieira Ana, Cutolo Maurizio, Mosca Marta, Matucci-Cerinic Marco
Department of Rheumatology, Ghent University Hospital, Ghent, Belgium.
Department of Internal Medicine, Ghent University, Ghent, Belgium.
RMD Open. 2018 Oct 18;4(Suppl 1):e000782. doi: 10.1136/rmdopen-2018-000782. eCollection 2018.
Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains 'Vascular & Ulcers' (ie, non-pharmacological approach to digital ulcer), 'PAH' (ie, screening and treatment), 'Treatment' and 'Juveniles' (ie, evaluation of juveniles with Raynaud's phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and non-pharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.
系统性硬化症（SSc）是一种罕见病，其特征为自身免疫、皮肤和内脏器官纤维化以及血管病变。SSc可能与高发病率和死亡率相关。在这篇叙述性综述中，我们总结了一项系统文献研究的结果，该研究是欧洲罕见和复杂结缔组织及肌肉骨骼疾病参考网络项目的一部分，旨在评估现有的临床实践指南或建议。仅在“血管与溃疡”（即手指溃疡的非药物治疗方法）、“肺动脉高压”（即筛查和治疗）、“治疗”以及“青少年”（即对患有雷诺现象的青少年进行评估）等领域纳入了基于证据和共识的指南。因此，在SSc中，对于几种SSc特异性并发症的诊断和（非）药物治疗，存在大量未满足的需求。SSc患者在与SSc相关的分类、管理（包括药物和非药物管理）以及教育方面存在很大的不确定性。该疾病对日常生活的影响（自尊丧失、疲劳、性功能障碍以及职业、营养和人际关系问题）被低估，需要进行评估。
