Systemic sclerosis: Demographic, clinical, and serologic features and survival in 1,012 Italian patients
Systemic sclerosis: Demographic, clinical, and serologic features and survival in 1,012 Italian patients
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DOI：
10.1097/00005792-200203000-00004
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发表时间：
2002-03-01
期刊：
影响因子：
1.6
通讯作者：
Tirri, G
中科院分区：
文献类型：
--
作者：
Ferri, C;Valentini, G;Tirri, G
系统性硬化症(SSC)是一种以不同程度皮肤纤维化和内脏器官受累为特征的结缔组织病(17、19、22)。SSC的病因仍不清楚；该病似乎是多步骤和多因素过程的结果，包括免疫系统改变、遗传和外源性以及毒性或感染因素(17、19、22)。由于SSc相对罕见，诊断困难，其临床变异性极大，其流行病学尚未确定。SSc发病女性多于男性，发病高峰在45岁至岁(19、22岁)。这种疾病在黑人中的发病率似乎有所增加，特别是在黑人女性中，但在分布上没有其他显著的种族差异。对SSc患者的各种HLA研究未能确定任何明确的关联，即使可能假设特定的临床血清学SSC亚群可能起到特定的HLA抗原的作用(19)。此外，家族性因素对硬皮病的发展当然很重要：硬皮病患者有1个或更多的一级亲属患有另一种自身免疫系统疾病，如雷诺现象、系统性红斑狼疮或类风湿性关节炎，这种情况并不少见(19，22)。不同调查的年发病率(每年新增病例/高危人口)差异很大(从每百万人0.6例到19.1例/年)，估计的流行率也是如此(每百万高危人口生活在特定时间或特定时间间隔内的病例数量：从126例到1,500例)。这种疾病的实际发病率和流行率通常被低估；最低估计值分别为每年20/百万和1500/百万。未确诊病例的数量，特别是在最早的调查中，可能是很大的；这至少部分是由于疾病的临床特征。SSc包括一系列症状，从非常轻微的皮肤和内部器官受累到导致器官衰竭的弥漫性纤维化(4、11、17、19、22)。器官损害的不同组合，或较少发生的严重的单个器官受累，是导致SSC发病率和死亡率的原因。在不同的结缔组织病中，SSc预后最差(17、19、22)。公认的诊断标准、疾病活动性(34)和严重程度(21)以及有价值的预后参数的可用性，对于及时识别患者、临床评估和管理应该是决定性的。在缺乏有价值的诊断标准的情况下，患者通常根据美国风湿病学会(前ARA)SSC分类的初步标准(32)(表1)进行分类。毛细支气管镜下SSC分型(毛细血管扩张伴或不伴毛细血管脱落)和SSC相关血清抗体的引入可能会提高分类标准的有效性，特别是在区分疾病的早期阶段。
Systemic sclerosis (SSc) is a connective tissue disease clinically characterized by different degrees of skin fibrosis and visceral organ involvement (17, 19, 22). The etiology of SSc remains obscure; the disease appears to be the result of a multistep and multifactorial process, including immune system alterations, genetic and exogenous, and toxic or infectious factors (17, 19, 22). The epidemiology of SSc is not definitely established due to the relative rarity of the disease, the difficulty in diagnosis, and its extreme clinical variability. SSc affects females more frequently than males, with a peak of incidence between ages 45 and 64 years (19, 22). There seems to be an increased incidence of the disease in blacks, particularly in black females, but no other significant racial differences in distribution. Various HLA studies in SSc patients failed to identify any clearcut associations, even if a role of specific HLA antigens might be hypothesized for particular clinico-serologic SSc subsets (19). Moreover, familial factors are certainly important for SSc development: it is not rare to observe a scleroderma patient with 1 or more firstdegree relatives with another autoimmune systemic disorder, such as Raynaud phenomenon, systemic lupus, or rheumatoid arthritis (19, 22). The annual incidence (new cases/population at risk per year) of SSc varies largely among different surveys (from 0.6 to 19.1 per million/year), as does the estimated prevalence (number of cases living at a particular time or during a given time interval per million of population at risk: from 126 to 1,500). The actual incidence and prevalence of the disease are generally underestimated; the minimum estimated values are 20/million per year and 1,500/million, respectively. The number of undiagnosed cases, especially in the oldest surveys, might be significant; this is due, at least in part, to the clinical characteristics of the disease. SSc includes a wide spectrum of symptoms, varying from very mild cutaneous and internal organ involvement to diffuse fibrosis responsible for organ failure (4, 11, 17, 19, 22). A variable combination of organ damage, or, less frequently, a severe, single organ involvement, is responsible for SSc morbidity and mortality. Among different connective tissue diseases, SSc shows the poorest prognosis (17, 19, 22). The availability of well-recognized criteria for diagnosis, disease activity (34), and severity (21), as well as of valuable prognostic parameters, should be decisive for timely patient identification, clinical assessment, and management. In the absence of valuable diagnostic criteria, patients are usually classified according to the American College of Rheumatology (formerly ARA) preliminary criteria for SSc classification (32)(Table 1). The introduction of capillaroscopic SSc pattern (capillary dilation with or without capillary dropouts) and SSc-related serum autoantibodies might improve the usefulness of classification criteria, particularly in discriminating the early stage of the dis-