Disease Burden in Patients with X-linked Hypophosphatemia in Korea: A Survey with Interview Study

This study aimed to assess the disease burden in Korean patients with X-linked hypophosphatemia (XLH) by combining quantitative and qualitative data. A cross-sectional study was conducted using patient-reported outcome measures, including EuroQol 5 Dimension (EQ-5D), 36-item Short Form (SF-36), and the Work Productivity and Activity Impairment questionnaire (WPAI). Open-ended interviews were also held to explore personal and social dimensions of living with XLH. The study included twelve participants: four adult patients and eight caregivers of pediatric patients. Utility scores from EQ-5D were lower in adults (mean: 0.65, standard deviation [SD]: 0.21) compared to pediatric patients (mean: 0.73, SD: 0.21). Health-related quality of life (HRQoL), measured by SF-36, was significantly lower in adults, especially in general health (mean: 26.25, SD: 16.52) compared to pediatric patients (mean: 51.25, SD: 26.29). Interview results revealed challenges related to symptoms, financial burden, social impacts, treatment, and emotional distress. The study highlights the significant burden of XLH on patients and caregivers in Korea, emphasizing the need for targeted interventions to improve pain management, quality of life, and productivity, along with addressing the broader social and emotional impacts of the disease.