Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry
Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry
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DOI：
10.1001/jamadermatol.2016.2473
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发表时间：
2016-11-01
期刊：
影响因子：
10.9
通讯作者：
Fine, Jo-David
中科院分区：
文献类型：
--
作者：
Fine, Jo-David
重要性在设计临床试验和政府机构和第三方保险公司为这些个体的护理分配足够的资金之前，准确估计大疱性表皮病（EB）的每个亚型的发病率和患病率是必不可少的。和参与者前瞻性横断面和纵向研究。从1986年1月1日至2002年12月31日，使用在美国国立卫生研究院协助下创建的详细工具，从国家大疱性表皮癣登记处连续登记的3271例患者中获得数据。分析于1999年1月和2015年4月进行。参与者是所有年龄段的EB患者。主要结果和措施广泛的临床和实验室数据收集的患者谁是亚分类和连续重新验证的基础上发表的诊断建议，由国际专家小组。与本报告相关，估计的发病率和患病率在2 timeframe.RESULTS的注册资金的第一个5年期间，遗传性EB的总体发病率和患病率分别为19.60和8.22每1百万活产婴儿，分别。当对整个16年的研究进行重新评估时，患病率上升到11.07，而总发病率保持不变，为19.57例。在一些疾病亚组中也观察到变化，因为随着时间的推移，识别、招募、纵向随访并根据需要重新分类的患者数量增加。例如，在2002年，总体和局部EBS的患病率分别大幅增加了30.4%和25.5%，而由于后来将其中一些患者细分为其他亚型，全身性中间型EBS的患病率下降了76.7%。相比之下，没有显着的变化，注意到在整体流行的JEB或广义严重JEB，虽然有一个73.0%的下降，在流行的广义中期JEB.CONCLUSIONS和相关性的发病率和患病率的每一个主要亚型的遗传性EB在美国的准确估计，现在可以帮助研究人员在选择哪些亚型是经得起适当的设计，大规模的临床试验
IMPORTANCE Accurate estimation of the incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical trials can be designed and sufficient funding allocated by government agencies and third-party insurers for the care of these individuals.OBJECTIVE To determine the incidence and prevalence of inherited EB stratified by subtype in the United States during a 16-year period.DESIGN, SETTING, AND PARTICIPANTS Prospective cross-sectional and longitudinal study. Data were obtained from 3271 patients consecutively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, through December 31, 2002, using a detailed instrument created with the assistance of the National Institutes of Health. Analyses were performed in January 1999 and April 2015. Participants were patients of all ages with EB.MAIN OUTCOMES AND MEASURES Extensive clinical and laboratory data were collected on patients who were subclassified and serially revalidated based on published diagnostic recommendations by an international panel of experts. Pertinent to this report, estimates were made of the incidence and prevalence during 2 time frames.RESULTS During the first 5 years of funding of the registry, the overall incidence and prevalence of inherited EB were 19.60 and 8.22 per 1 million live births, respectively. When reassessed over the entire 16 years of the study, the prevalence rose to 11.07, whereas the overall incidence remained unchanged at 19.57 cases. Changes were also observed within some disease subsets as increased numbers of patients were identified, recruited, followed up longitudinally, and resubclassified as needed over time. For example, in 2002, the prevalence of EBS overall and localized EBS had increased considerably by 30.4% and 25.5%, respectively, whereas the prevalence of generalized intermediate EBS declined by 76.7% as a result of later subclassification of some of those patients into other subtypes. In contrast, no significant change was noted in the overall prevalence of JEB or generalized severe JEB, although there was a 73.0% decline in the prevalence of generalized intermediate JEB.CONCLUSIONS AND RELEVANCE Precise estimates of the incidence and prevalence of each major subtype of inherited EB in the United States are now available that should assist investigators in choosing which subtypes are amenable to properly designed, large-scale, clinical trials.