Department of Medicine (LAS), Scleroderma and Sarcoidosis Patient Care and Research Center, Louisiana State University Health Sciences Center, New Orleans, Louisiana; Institute for Health and Society Medical School (JHM), University of Oslo, Norway; Alexion Pharmaceuticals (MKD), Translational Medicine Group, Cambridge, Massachusetts; and Tulane Xavier National Center of Excellence in Women's Health (JHM, MKD), The Mary Amelia Douglas-Whited Community Women's Health Education Center and Tulane University School of Public Health and Tropical Medicine, Tulane University, New Orleans, Louisiana.
Am J Med Sci. 2014 Jan;347(1):54-63. doi: 10.1097/MAJ.0b013e3182a55d24.
Systemic sclerosis (SSc) is a disease of unknown causative factor that manifests as a heterogenous group of multiorgan system manifestations and is characterized by vasculopathy and fibrosis of the skin and internal organs, with mortality related to pulmonary, cardiac, renal or gastrointestinal involvement. The prevalence of SSc may be underestimated in the general population. Cases are often undiagnosed or misdiagnosed, particularly cases with mild or no skin manifestations. Because of late referrals to rheumatologic care, many moderate-to-severe cases progress to irreversible end-organ damage that might have been prevented by early diagnosis. Early diagnosis of SSc with initiation of appropriate treatment is essential, with great impact on morbidity and mortality. This review examines presenting features, ensuing complications and treatment providing a focus on SSc as a treatable disease. Primary care providers play a pivotal role in recognizing initial symptoms associated with SSc and securing early diagnosis through early referral to specialists.
系统性硬化症（SSc）是一种病因不明的疾病，表现为多种器官系统表现的异质性群体，其特征是血管病变和皮肤及内脏器官纤维化，死亡率与肺部、心脏、肾脏或胃肠道受累有关。SSc 在普通人群中的患病率可能被低估。病例往往未被诊断或误诊，特别是那些皮肤表现轻微或无的病例。由于延迟转诊至风湿科治疗，许多中重度病例进展为不可逆的终末器官损伤，如果早期诊断可能会预防这些损伤。早期诊断 SSc 并开始适当治疗至关重要，这对发病率和死亡率有重大影响。本综述探讨了 SSc 的表现特征、后续并发症和治疗，重点关注 SSc 作为一种可治疗的疾病。初级保健提供者在识别与 SSc 相关的初始症状并通过早期转介至专科医生来确保早期诊断方面发挥着关键作用。
