Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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 (n = 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 (p 

Original publication

DOI

10.1093/jbmrpl/ziaf078

Type

Journal article

Journal

JBMR Plus

Publication Date

07/2025

Volume

9

Keywords

CarGOQoL, EQ-5D, X-linked hypophosphatemia, caregiver, quality of life