Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.

Background: X-linked hypophosphataemia (XLH) is a rare inherited disorder often misdiagnosed and lacking sufficient aetiological treatment. Previous studies have shown that XLH is associated with worse health-related quality of life (HRQoL) and greater economic burden for children and their families compared with the general population, but evidence from China is scarce. This study aimed to comprehensively explore the burden and HRQoL of XLH children in China.

Methods: An online retrospective survey of paediatric patients with XLH and their caregivers was conducted nationwide during March to June 2021. A self-administered questionnaire was used to collect socio-demographic, clinical and economic data. The EQ-5D-Y-3L instrument was employed to assess HRQoL, and the health utility score was calculated. Direct medical, non-medical and indirect costs were determined. Multivariate regression analysis was performed to explore potential associations between HRQoL and identified influencing factors.

Results: The study included 221 subjects with a mean age of 7.25 years, of whom 119 (53.8%) were girls. Most XLH children (63.8%) lived in rural areas, and 39.4% reported a family history. Over 70% experienced misdiagnosis. The average total annual cost per patient was found to be 34 657.85 CNY. Of direct medical costs, patients' out-of-pocket expenses were substantial. The incidence of catastrophic health expenditure was 19.9%. The means (SD) of EQ-5D-Y-3L health utility and EQ-5D VAS scores were 0.83 (0.14) and 56.07 (10.95). Both univariate and multivariate analyses found older age and lower economic affordability were associated with poorer HRQoL.

Conclusions: The study underscores the significant burden of XLH on paediatric patients and their families in China, both in terms of HRQoL and economic costs. The findings emphasise the importance of early detection, accurate diagnosis, cost-effective targeted interventions and long-term multidisciplinary management strategies to improve the lives of XLH children and their families.