Kolton Schneider Lynne, Ali Yasmine S., Agnew Jonathan D.
University of Pennsylvania
Assistant Clinical Professor of Medicine, Vanderbilt Univ. School of Medicine
Scleroderma (encompassing localized scleroderma and the more serious form of systemic sclerosis) is a relatively rare autoimmune connective tissue disease (CTD) that predominantly affects women aged 30 to 50 years. It affects between 75,000 and 100,000 people in the US and is more common in people who have family members with other autoimmune CTDs.[American College of Rheumatology. Scleroderma. Fast Facts.] Scleroderma, particularly systemic sclerosis (SSc), is associated with substantial morbidity and mortality. Of great concern is an elevated risk of developing the potentially life-threatening complication of pulmonary arterial hypertension (PAH). PAH is a chronic, progressive type of pulmonary hypertension (PH) characterized by abnormally high pressure in the pulmonary vasculature. This rare cardiovascular disease results from restricted blood flow through the pulmonary arterial circulation. Progression of PAH is characterized by increased pulmonary vascular resistance, vasculature reconstruction, narrowing of the pulmonary arterioles, and right ventricular dysfunction, which ultimately leads to right heart failure and early mortality.[2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS)] Rates of PAH in patients with SSc are substantially higher than rates in the general population. The overall prevalence of PAH is about 5 to 15 cases per million and is more common in women than men. The leading cause of PAH is CTDs, and particularly SSc. PAH has a prevalence of 7% to 19% in patients with SSc and accounts for about 30% of the mortality in SSc. Originally associated with younger adults aged 35 to 50 years, current data indicates a growing increase in PAH diagnoses among older patients (aged 50 to 65 years), with a closing gender gap. However, owing to nonspecific manifestations (dyspnea, exercise intolerance, and fatigue), patients are typically diagnosed at advanced stages with poorer outcomes. Early screening and diagnosis of PAH followed by prompt initiation of risk-based treatment have been shown to improve outcomes and delay the progression of PAH.[2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS)] Until the development of current treatment strategies, the average survival for a patient with PAH was 2.8 years.
硬皮病（包括局限性硬皮病和更严重的系统性硬化症）是一种相对罕见的自身免疫性结缔组织病（CTD），主要影响30至50岁的女性。在美国，受其影响的人数在75,000至100,000之间，在有其他自身免疫性CTD家族成员的人群中更为常见。[美国风湿病学会。硬皮病。简要事实。]硬皮病，尤其是系统性硬化症（SSc），与较高的发病率和死亡率相关。令人极为担忧的是，发生潜在危及生命的肺动脉高压（PAH）并发症的风险升高。PAH是一种慢性、进行性的肺动脉高压（PH），其特征是肺血管系统压力异常升高。这种罕见的心血管疾病是由于通过肺动脉循环的血流受限所致。PAH的进展特征为肺血管阻力增加、血管重建、肺小动脉狭窄和右心室功能障碍，最终导致右心衰竭和早期死亡。[2015年欧洲心脏病学会（ESC）/欧洲呼吸学会（ERS）肺动脉高压诊断和治疗指南：欧洲心脏病学会（ESC）和欧洲呼吸学会（ERS）肺动脉高压诊断和治疗联合工作组]SSc患者中PAH的发生率显著高于一般人群。PAH的总体患病率约为每百万人口5至15例，女性比男性更常见。PAH的主要病因是CTD，尤其是SSc。SSc患者中PAH的患病率为7%至19%，约占SSc死亡率的30%。PAH最初与35至50岁的年轻人相关，目前的数据表明，老年患者（50至65岁）中PAH诊断的增加趋势不断上升，性别差距正在缩小。然而，由于非特异性表现（呼吸困难、运动不耐受和疲劳），患者通常在疾病晚期才被诊断出来，预后较差。已证明，对PAH进行早期筛查和诊断，随后迅速启动基于风险的治疗，可改善预后并延缓PAH的进展。[2015年欧洲心脏病学会（ESC）/欧洲呼吸学会（ERS）肺动脉高压诊断和治疗指南：欧洲心脏病学会（ESC）和欧洲呼吸学会（ERS）肺动脉高压诊断和治疗联合工作组]在当前治疗策略出现之前，PAH患者的平均生存期为2.8年。
