Johnson Ben, Gibson Gregor, Baskerville Daniel, Castellano Giorgio, de Courcy Jonathan, Iqbal Halima, Piercy James, Williams Angela, Pinedo-Villanueva Rafael, Rylands Angela
Kyowa Kirin International, 2 Globeside, Fieldhouse Lane, Marlow, SL7 1HZ, UK.
Adelphi Real World, Bollington, UK.
Orphanet J Rare Dis. 2025 Jun 6;20(1):282. doi: 10.1186/s13023-025-03796-z.
Rare diseases present a substantial patient burden, but the impact on non-professional caregivers is poorly understood. We explored the health-related quality of life (HRQoL) and productivity burden on caregivers of adults with rare diseases.
We analysed physician- and caregiver-reported real-world data from France, Germany, Italy, Spain, the United Kingdom, and the United States of America collected July 2017-March 2021 via Adelphi Disease Specific Programmes™ in amyotrophic lateral sclerosis (ALS), eosinophilic esophagitis (EoE), graft versus host disease (GvHD), Huntington's disease (HD), myasthenia gravis (MG), and progressive supranuclear palsy (PSP). Non-professional caregivers completed the EQ-5D-5L and Work Productivity and Activity Impairment questionnaire. Multivariate regression analysis modelled the relationship of care recipient/caregiver characteristics with caregiver HRQoL and productivity.
Data were provided by 365 caregivers; 114, 89, 75, 32, 29 and 26 in GvHD, PSP, ALS, MG, EoE and HD, respectively. Care recipients' mean (standard deviation [SD]) age was 58.7 (15.6) years, 59% were male and 23% had both professional and non-professional caregivers. Patients' mean (SD) EuroQol visual analogue scale (EQ VAS) score was 50.9 (23.3) and mean EQ-5D utility was 0.460 (0.350). Caregivers' mean age was 55.8 (13.8) years, 66% were female. Caregivers' EQ-5D-5L indicated their greatest problems in anxiety/depression. Overall, 45% of caregivers were employed, mostly part-time. In the past 7 days, mean (SD) caregiver absenteeism was 5.2% (13.1%), presenteeism was 28.0% (23.7%), and activity impairment was 43.1% (27.2%). Regressions identified multiple significant associations with caregivers' HRQoL and productivity. Caregivers' HRQoL (EQ-5D utility and EQ VAS) was associated with care recipients' EQ-5D utility and caregivers' age. Outcomes relating to caregivers' employment and productivity (hours spent caring, employment status, hours in employment, hours of employment missed, absenteeism, presenteeism, work impairment and activity impairment) were most frequently associated with care recipients' EQ-5D utility, caregivers' age and sex, caregiver living with the care recipient, the presence of a professional caregiver, and the care recipient having HD.
The substantial burden of providing non-professional caregiving to adults with rare diseases is associated with multiple factors. Interventions improving care recipient HRQoL could enhance caregiver HRQoL and productivity.
罕见病给患者带来了沉重负担，但对非专业照料者的影响却知之甚少。我们探讨了成年罕见病患者的非专业照料者的健康相关生活质量（HRQoL）和生产力负担。
我们分析了来自法国、德国、意大利、西班牙、英国和美国的医生及照料者报告的真实世界数据，这些数据于2017年7月至2021年3月通过阿德尔菲特定疾病项目™收集，涉及肌萎缩侧索硬化症（ALS）、嗜酸性食管炎（EoE）、移植物抗宿主病（GvHD）、亨廷顿舞蹈症（HD）、重症肌无力（MG）和进行性核上性麻痹（PSP）。非专业照料者完成了EQ-5D-5L问卷以及工作生产力和活动受损问卷。多变量回归分析对受照料者/照料者特征与照料者的HRQoL和生产力之间的关系进行了建模。
365名照料者提供了数据；在GvHD、PSP、ALS、MG、EoE和HD中分别有114名、89名、75名、32名、29名和26名。受照料者的平均（标准差[SD]）年龄为58.7（15.6）岁，59%为男性，23%同时有专业和非专业照料者。患者的平均（SD）欧洲五维度健康量表视觉模拟评分（EQ VAS）为50.9（23.3），平均EQ-5D效用值为0.460（0.350）。照料者的平均年龄为55.8（13.8）岁，66%为女性。照料者的EQ-5D-5L表明他们在焦虑/抑郁方面存在最大问题。总体而言，45%的照料者受雇，大多为兼职。在过去7天里，照料者的平均（SD）缺勤率为5.2%（13.1%），出勤但生产力下降率为28.0%（23.7%），活动受损率为43.1%（27.2%）。回归分析确定了与照料者的HRQoL和生产力的多个显著关联。照料者的HRQoL（EQ-5D效用值和EQ VAS）与受照料者的EQ-5D效用值以及照料者的年龄相关。与照料者的就业和生产力相关的结果（照料时长、就业状况、工作时长、缺勤时长、出勤但生产力下降、工作受损和活动受损）最常与受照料者的EQ-5D效用值、照料者的年龄和性别、照料者与受照料者同住、是否有专业照料者以及受照料者是否患有HD相关。
为成年罕见病患者提供非专业照料的沉重负担与多种因素相关。改善受照料者HRQoL的干预措施可能会提高照料者的HRQoL和生产力。
