Health-related quality of life among adults with diverse rare disorders
Health-related quality of life among adults with diverse rare disorders
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DOI：
10.1186/s13023-017-0730-1
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发表时间：
2017-12-07
影响因子：
3.7
通讯作者：
Irvin, Veronica L.
中科院分区：
文献类型：
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作者：
Bogart, Kathleen R.;Irvin, Veronica L.
背景：2500万至3000万美国人患有罕见病（RD），并面临着独特的挑战。大多数关于RD的研究集中在病因、治疗和护理上，而有限的健康相关生活质量（HRQL）研究仅限于单一RD、小样本或未经验证的措施。本研究报告了患有不同rd的成年人的HRQL，并将他们的分数与美国人口和患有常见慢性疾病的人的分数进行了比较。方法：我们对居住在美国的诊断为RD的成年人进行了横断面调查。参与者是通过RD组织招募的，并在2016年12月至2017年5月期间完成了在线调查（n = 1218）。HRQL采用标准化的患者报告结果测量信息系统（PROMIS）进行评估。根据Orphanet的定义，将rd分为几类。计算主要样本和RD类别的平均值和95%置信区间，并与公布的美国人口标准和常见慢性病标准进行比较。在HRQL，人口统计和RD经验之间进行了相互关联。结果：与美国人群和常见慢性疾病患者的标准相比，主要样本的所有六个PROMIS域的平均HRQL评分明显较差，并且在特定RD分类的子集分析时通常较差。患有罕见全身性、风湿病、神经系统和免疫疾病的人的HRQL最差。如果参与者有多个rd，收入较低，是女性或年龄较大，则HRQL较差。症状时间越长，HRQL越差，而正式诊断时间越长，HRQL越好。结论：本研究首次使用有效的测量方法在rd的大型异质样本中检测HRQL。与一般人群和常见慢性病患者相比，RD患者的HRQL存在显著差异。较差的HRQL可归因于难以获得诊断、医疗信息、治疗、社会心理支持以及应对污名和不确定性。由于大多数rd患者在其一生中都无法治愈，因此确定改善HRQL的方法对于以患者为中心的护理至关重要，并且应该是优先考虑的资金来源。
Background: Twenty-five to 30 million Americans live with a rare disease (RD) and share challenges unique to RD. The majority of research on RDs has focused on etiology, treatment and care, while the limited health-related quality of life (HRQL) research has been restricted to single RDs, small samples, or non-validated measures. This study reports HRQL among adults with diverse RDs, and compares their scores to those of the U.S. population and people with common chronic health conditions.Methods: We conducted a cross-sectional survey of adults living in the U.S. diagnosed with any RD. Participants were recruited through RD organizations and completed the online survey between December 2016 and May 2017 (n = 1218). HRQL was assessed using the standardized Patient-Reported Outcomes Measurement Information System (PROMIS). RDs were classified into categories defined by Orphanet. Means and 95% confidence intervals were calculated for the main sample and for RD categories and were compared to published U.S. population norms and common chronic disease norms. Intercorrelations were conducted between HRQL, demographics, and RD experiences.Results: When compared to the norms for the U.S. population and for those with common chronic diseases, mean HRQL scores were significantly poorer across all six PROMIS domains for the main sample, and were usually poorer when analyzed by sub-sets of specific RD classifications. People with rare systemic and rheumatologic, neurological, and immune diseases had the poorest HRQL. Participants had poorer HRQL if they had multiple RDs, lower income, were female, or older. Having symptoms longer was associated with worse HRQL, however, having a formal diagnosis longer was associated with better HRQL.Conclusions: This study is the first to examine HRQL in a large, heterogeneous sample of RDs using validated measures. There is a significant disparity in HRQL among people with RD compared to the general population and people with common chronic diseases. Poor HRQL could be attributed to challenges accessing diagnoses, medical information, treatment, psychosocial support, and coping with stigma and uncertainty. As most individuals with RDs will not be cured in their lifetimes, identifying ways to improve HRQL is crucial to patient-centered care and should be a funding priority.