Health-related Quality of Life and Direct Healthcare Costs of X-linked Hypophosphatemia in Spain

Abstract Background The purpose of this study is to analyze the health-related quality of life (HRQoL) of pediatric and adult patients with X-linked hypophosphatemia (XLH) treated with conventional therapy, as well as to assess the direct healthcare costs of the disease.We used several versions of the EuroQol-5 dimensions (EQ-5D) instrument according to the age of patients with XLH. Then we compared the HRQoL of patients to that of general Spanish population.We estimated direct healthcare costs by means of expert knowledge, consultation with hospital accounting departments, public databases and literature review. Results Children with XLH (n = 21) had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%).Adults with XLH (n = 29) had lower HRQoL, with problems in walking (93%, with 3.45% unable to walk independently), some level of pain (86%, with 3.45% experiencing extreme pain), problems with their usual activities (80%) and self-care (>50%), and reported symptoms of anxiety and/or depression (65%). There were important differences with the general Spanish population.Regarding costs, XLH was associated with important direct healthcare costs to the national healthcare system, accounting for more than 5 million euros per year. However, the socioeconomic cost of XLH is considerably higher than that. Conclusions XLH impacts negatively on physical functioning and HRQoL of patients, which increases both direct and indirect costs associated with XLH. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment and associated healthcare costs were high, clearly indicating the need to improve the therapeutic approach of this disorder.