Health-related quality of life in children and adults with X-linked hypophoshatemia

Abstract Background X-linked hypophosphatemia (XLH) is an inherited type of severe rickets leading to deformities and can sometimes become a debilitating condition. Its impact on health-related quality of life (HRQoL) has not been extensively studied. Results Using standardized questionnaires in 21 children and 29 adults with confirmed XLH, we observed significant impaired HRQoL. Children 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%). The mean EQ-5D-3L/EQ-5D-3L proxy index was 0.79 ± 0.15 and the mean VAS score was 68.33 ± 16.61. Adults had lower HRQoL, particularly with problems in walking (93%, with 3.45% unable to walk independently) and pain (86%, with 3.45% experiencing extreme pain). They also reported problems when carrying out their usual activities (80%) and washing or dressing themselves (>50%), and 65% of adult patients reported symptoms of anxiety and/or depression. The differences compared with the general Spanish population were significant, especially in the mobility and pain/discomfort dimensions of the EQ-5D-5L instrument. Caregivers and parents showed mild reduction in HRQoL, with a mean EQ-5D-5L index value (0.82 ± 0.16) and a mean VAS score (75.48 ± 17.24) smaller than that found in the general Spanish population. Conclusions X-linked hypophosphatemia reduced health-related quality of life despite treatment. These results evidenced limitations of conventional treatment in preventing disease complications, which in turn impaired quality of life in pediatric and adult patients.