Pinedo-Villanueva Rafael, Njuki Njoki, Sanchez-Santos Maria T, Javaid Muhammad Kassim
Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, OX3 7HE, United Kingdom.
National Institute for Health Research (NIHR) Oxford Biomedical Research Centre, University of Oxford, Oxford, OX3 9DU, United Kingdom.
JBMR Plus. 2025 Apr 30;9(7):ziaf078. doi: 10.1093/jbmrpl/ziaf078. eCollection 2025 Jul.
X-linked hypophosphatemia (XLH) is a rare genetic disorder that leads to rickets, osteomalacia, and other skeletal abnormalities. Many people with XLH get support from informal caregivers, often family members, to help with their daily living. Although generally rewarding, being a caregiver can be associated with extra physiologic, physical, and mental health burdens, which are poorly researched and understood. This study aims to investigate the quality of life of people with XLH who are also caregivers of relatives with XLH. To do this, we conducted a cross-sectional study to characterize the quality of life of caregivers using both a caregiver-specific and a generic quality of life questionnaire, examined the association between the instruments for caregivers, and compared the generic quality of life between caregivers and matched non-caregivers. We used data from the Rare UK Diseases Study (RUDY), whose platform allows people with XLH to record their own characteristics and outcome measures, including the caregiver oncology quality of life questionnaire (CarGOQoL) and the generic EQ-5D. Caregivers and non-caregivers with XLH were matched on gender and age. Caregivers ( = 13) report not feeling burdened or seeing their self-esteem impacted by providing care, but their private life, leisure, and psychological well-being were affected. They report worse quality of life than the UK general population. CarGOQoL and EQ-5D were highly correlated ( < .001). Caregivers of people with XLH reported better quality of life than non-caregivers in all EQ-5D dimensions except for Anxiety/Depression (EQ-5D score of 0.467 vs 0.356 for non-caregivers). Our findings must be interpreted with caution, given the small sample size, although they are consistent with the literature. Caregivers play an important role in supporting the everyday life of those they look after. This role should be recognized, and helpful information and tools made available to support them in that process.
X连锁低磷血症（XLH）是一种罕见的遗传性疾病，可导致佝偻病、骨软化症和其他骨骼异常。许多XLH患者得到非正式照料者（通常是家庭成员）的支持以帮助他们的日常生活。虽然总体上有回报，但作为照料者可能会带来额外的生理、身体和心理健康负担，而这些负担的研究和了解都很少。本研究旨在调查既是XLH患者又是XLH亲属照料者的人群的生活质量。为此，我们进行了一项横断面研究，使用照料者专用和通用生活质量问卷来描述照料者的生活质量，检查照料者所用工具之间的关联，并比较照料者与匹配的非照料者之间的通用生活质量。我们使用了来自英国罕见病研究（RUDY）的数据，其平台允许XLH患者记录自己的特征和结局指标，包括照料者肿瘤生活质量问卷（CarGOQoL）和通用的EQ-5D。患有XLH的照料者和非照料者在性别和年龄上进行了匹配。照料者（n = 13）报告称，提供照料并未让他们感到负担沉重或影响自尊，但他们的私人生活、休闲和心理健康受到了影响。他们报告的生活质量比英国普通人群更差。CarGOQoL和EQ-5D高度相关（r <.001）。除焦虑/抑郁维度外，XLH患者的照料者在所有EQ-5D维度上报告的生活质量均高于非照料者（非照料者的EQ-5D评分为0.356，照料者为0.467）。鉴于样本量较小，尽管我们的研究结果与文献一致，但仍需谨慎解读。照料者在支持他们所照顾的人的日常生活中发挥着重要作用。这一角色应得到认可，并应提供有用的信息和工具以在这一过程中支持他们。
