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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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>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\u2009=\u200921) 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\u2009=\u200929) 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 (&gt;\u200950%), and reported symptoms of anxiety and\/or depression (65%). There were important differences with the general Spanish population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-022-02452-0","type":"journal-article","created":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T11:04:48Z","timestamp":1659092688000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Health-related quality of life of X-linked hypophosphatemia in Spain"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-0127","authenticated-orcid":false,"given":"M. I. 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Available from: https:\/\/euroqol.org\/wp-content\/uploads\/2018\/12\/EQ-5D-3L-User-Guide_version-6.0.pdf."}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02452-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-022-02452-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02452-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T11:09:10Z","timestamp":1659092950000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02452-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,29]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["2452"],"URL":"https:\/\/doi.org\/10.1186\/s13023-022-02452-0","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,29]]},"assertion":[{"value":"1 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved and classified by the Spanish Agency for Medicines and Health Products (AEMPS) as a non-interventional observational post-authorization study and was approved by an Ethics Committees for Clinical Research (CEIC; University Hospital Puerta de Hierro Majadahonda) (Approval No. 18.17). Furthermore, this study has been performed in accordance with the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Patients aged 12\u201318\u00a0years, adult patients, and caregivers or parents of all pediatric patients were informed verbally and in writing, and informed consent was obtained before participation in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"MILY, PP, CV, MR-K, JH, LE, SM, LP-S, VM, CP, JAP, MAC and JE have received lecture fees from Kyowa Kirin Farmac\u00e9utica S.L. SM and JJB have received lecture fees and advisory honoraria from Kyowa Kirin Farmac\u00e9utica S.L. GA has received lecture fees and advisory honoraria from Kyowa Kirin Farmac\u00e9utica S.L. as well as support to attend scientific meetings. MD-C declares that he has no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"298"}}