Health-related quality of life of X-linked hypophosphatemia in Spain

Abstract

Background Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain. Results 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 the general Spanish population. 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. Conclusions XLH impacts negatively on physical functioning and HRQoL of patients. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment, clearly indicating the need to improve the therapeutic approach to this disorder.

Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK

“…Both XLH study populations reported a lower mean SF-36-PCS than mean SF-36-MCS suggesting that the physical impact of the condition may be greater than the mental impact. We found mean HRQL of adults with XLH (EQ-5D-5L = 0.651) to be higher than that of a Spanish study of adults with XLH (EQ-5D-5L = 0.562) [ 49 ]. This difference may be due to limited generalisability between UK and Spanish populations or the latter study identifying their participants through specialized clinics which may infer a more severe case mix.…”

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

“…Notwithstanding, the health‐related quality of life (HRQoL) of XLH patients remains poor even with conventional treatment, indicating the need for better treatment options. ( 88 )…”

“…Notwithstanding, the health-related quality of life (HRQoL) of XLH patients remains poor even with conventional treatment, indicating the need for better treatment options. (88) Burosumab Burosumab is a fully human monoclonal antibody against FGF23. In 2018, the European Medicines Agency (EMA) approved its use in EU for XLH in children from the age of 1 year and adolescents with a growing skeleton.…”

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

“…The early onset osteoarthritis is also thought to be a consequence of bone and joint deformation during growth [1,9,10]. All people with XLH, irrespective of age, describe their condition as having a severe negative impact on their physical function, mobility and health-related quality of life [7,[11][12][13][14]. 'Conventional therapy' for the treatment of XLH includes oral phosphate, given daily in multiple doses, and active vitamin D metabolites or analogues.…”