Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Mailman School of Public Health, Columbia University, New York, New York, USA.
Mov Disord. 2019 Jun;34(6):858-865. doi: 10.1002/mds.27653. Epub 2019 Mar 13.
Despite extensive research regarding the etiology of Huntington's disease, relatively little is known about the epidemiology of this rare disorder, particularly in the United States where there are no national-scale estimates of the disease.
To provide national-scale estimates of Huntington's disease in a U.S. population and to test whether disease rates are increasing, and whether frequency varies by race, ethnicity, or other factors.
Using an insurance database of over 67 million enrollees, we retrospectively identified a cohort of 3,707 individuals diagnosed with Huntington's disease between 2003 and 2016. We estimated annual incidence, annual diagnostic frequency, and tested for trends over time and differences in diagnostic frequency by sociodemographic characteristics.
During the observation period, the age-adjusted cumulative incidence rate was1.22 per 100,000 persons (95% confidence interval: 1.53, 1.65), and age-adjusted diagnostic frequency was 6.52 per 100,000 persons (95% confidence interval: 5.31, 5.66); both rates remained relatively stable over the 14-year period. We identified several previously unreported differences in Huntington's disease frequency by self-reported sex, income, and race/ethnicity. However, racial/ethnic differences were of lower magnitude than have previously been reported in other country-level studies.
In these large-scale estimates of U.S. Huntington's disease epidemiology, we found stable disease frequency rates that varied by several sociodemographic factors. These findings suggest that disease patterns may be more driven by social or environmental factors than has previously been appreciated. Results further demonstrate the potential utility of administrative Big Data in rare disease epidemiology when other data sources are unavailable. © 2019 International Parkinson and Movement Disorder Society.
尽管针对亨廷顿病的病因进行了广泛的研究，但对于这种罕见疾病的流行病学，人们知之甚少，特别是在美国，尚无针对该病的全国性估计。
提供美国亨廷顿病患者的全国性估计，并检验该病的发病率是否在上升，以及其频率是否因种族、民族或其他因素而异。
我们使用一个拥有超过 6700 万参保人的保险数据库，回顾性地确定了 2003 年至 2016 年间被诊断患有亨廷顿病的 3707 名个体的队列。我们估计了年度发病率、年度诊断频率，并检验了随时间的趋势以及诊断频率在社会人口特征方面的差异。
在观察期间，年龄调整后的累积发病率为每 10 万人 1.22 例（95%置信区间：1.53，1.65），年龄调整后的诊断频率为每 10 万人 6.52 例（95%置信区间：5.31，5.66）；在 14 年的研究期间，这两个比率相对稳定。我们发现了几个以前未报告的亨廷顿病发病率性别、收入和种族/民族差异。然而，种族/民族差异的幅度小于以前在其他国家级研究中报告的差异。
在这些对美国亨廷顿病流行病学的大规模估计中，我们发现了稳定的疾病频率，这些频率受多种社会人口因素的影响。这些发现表明，疾病模式可能更多地受到社会或环境因素的驱动，而不是以前所认为的那样。研究结果进一步证明，在没有其他数据来源的情况下，行政大数据在罕见病流行病学中的潜在应用价值。
