2026-04-13T04:14:21Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/82782025-10-24T10:20:30Zcom_2072_378070com_2072_378040col_2072_378092

Health-related quality of life of X-linked hypophosphatemia in Spain Luis Yanes, Maria Isabel Diaz-Curiel, Manuel Peris, P. Vicente, C. Marin, S. Ramon-Krauel, Marta Ariceta Iraola, Gema Qualitat de vida Fòsfor Fetge - Malalties - Diagnòstic DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Hypophosphatemia, Familial::Familial Hypophosphatemic Rickets ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Delayed Diagnosis HEALTH CARE::Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::hipofosfatemia familiar::raquitismo hipofosfatémico familiar TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::diagnóstico tardío ATENCIÓN DE SALUD::ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida Burden of disease; Health-related quality of life; X-linked hypophosphatemia Carga de la enfermedad; Calidad de vida relacionada con la salud; Hipofosfatemia ligada al cromosoma X Càrrega de la malaltia; Qualitat de vida relacionada amb la salut; Hipofosfatèmia lligada a X 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. This project was funded by Kyowa Kirin Farmacéutica S.L., which did not participate in the design or development of the study and was not involved in the writing of the manuscript or the decision to publish. 2025-10-24T10:20:30Z 2025-10-24T10:20:30Z 2025-10-24T10:20:30Z 2022-10-11T07:27:09Z 2022-10-11T07:27:09Z 2022-07-29 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/8278 Orphanet Journal of Rare Diseases;17 https://doi.org/10.1186/s13023-022-02452-0 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess BMC Scientia