{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:13:21Z","timestamp":1787026401354,"version":"build-2736575974"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004095","name":"Kyowa Kirin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004095","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>X-linked hypophosphatemia (XLH) is a lifelong, progressive genetic condition affecting patients\u2019 physical health and quality of life.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This cross-sectional study aimed to understand the burden of XLH on four generations of family members with XLH. 26 family members with XLH from Saudi Arabia were assessed via a home visit and clinical assessment in hospital. Patient demographics, biochemical parameters, and radiological and skeletal ndings were collected. Quality of life was assessed using the 36-Item Short Form Survey (SF-36) and Pediatric Quality of Life Inventory (PedsQL 4.0). Further assessment involved the 6-minute walk test (6MWT) and Western Ontario and McMaster Universities Arthritis Index (WOMAC) pain assessment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our results showed low quality of life for the adults and children, with mean SF-36 and PedsQL (8\u201318 years) scores of 34.12 (standard deviation [SD] 25.02) and 55.04 (SD 29.47), respectively. High levels of complications of XLH and surgical interventions were common, including dental abscesses (92%), tooth loss (73.07%), osteotomies (76.92%) and craniosynostosis (76.90%). In 15 adult patients, aged 35\u201355 years, moderate WOMAC scores for pain, stiffness, and function of hip and knee joints and low 6MWT scores were reported. Skeletal deformities in the hip (53.85%) and skull (76.90%), and fractures and pseudofractures (38.40%), were common among older patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>These ndings demonstrate that the burden of XLH in these family members who had delayed diagnosis and were non-compliant to medical treatment and supportive care was high. Greater awareness and early diagnosis are essential for identi cation of cases and early initiation of treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2025.1544016","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T07:57:26Z","timestamp":1744617446000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study"],"prefix":"10.3389","volume":"16","author":[{"given":"Afaf I.","family":"Alsagheir","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam","family":"Bin-Abbas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nujud M.","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raghad T.","family":"Alhuthil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah A.","family":"Murad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tala H.","family":"Husein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Zulf","family":"Mughal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehour E.","family":"Alsabban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Layla M.","family":"Almarzoug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khushnooda","family":"Ramzan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1210\/js.2018-00365","article-title":"The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey","volume":"3","author":"Skrinar","year":"2019","journal-title":"J Endocr Soc"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.1034580","article-title":"Burosumab for X-linked hypophosphatemia in children and adolescents: opinion based on early experience in seven European countries","volume":"13","author":"Mughal","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.688309","article-title":"X-linked hypophosphatemic rickets: multisystemic disorder in children requiring multidisciplinary management","volume":"12","author":"Baroncelli","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B4","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1186\/s13023-023-02882-4","article-title":"The international X-linked hypophosphatemia (Xlh) registry: first interim analysis of baseline demographic, genetic and clinical data","volume":"18","author":"Ariceta","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.340","article-title":"A clinician\u2019s guide to X-linked hypophosphatemia","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner Res"},{"key":"B6","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1210\/clinem\/dgab796","article-title":"Health care transition from pediatric- to adult-focused care in X-linked hypophosphatemia: expert consensus","volume":"107","author":"Dahir","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1186\/s13005-019-0192-x","article-title":"Oral symptoms and oral health-related quality of life of individuals with X-linked hypophosphatemia","volume":"15","author":"Hanisch","year":"2019","journal-title":"Head Face Med"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-020-02465-x","article-title":"Exploring the burden of X-linked hypophosphatemia: A european multi-country qualitative study","volume":"29","author":"Lo","year":"2020","journal-title":"Qual Life Res"},{"key":"B9","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1186\/s13023-022-02452-0","article-title":"Health-related quality of life of X-linked hypophosphatemia in Spain","volume":"17","author":"Yanes","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keaa859","article-title":"Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: A uk parallel cohort study using cprd","volume":"60","author":"Hawley","year":"2021","journal-title":"Rheumatol (Oxford)"},{"key":"B11","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1530\/EDM-23-0098","article-title":"Experience of X-linked hypophosphatemic rickets in the gulf cooperation council countries: case series","volume":"2024","author":"Al-Juraibah","year":"2024","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(18)30338-3","article-title":"Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: A multicentre, open-label, phase 2 trial","volume":"7","author":"Whyte","year":"2019","journal-title":"Lancet Diabetes Endocrinol"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-019-00568-3","article-title":"Continued beneficial effects of burosumab in adults with X-linked hypophosphatemia: results from a 24-week treatment continuation period after a 24-week double-blind placebo-controlled period","volume":"105","author":"Portale","year":"2019","journal-title":"Calcif Tissue Int"},{"key":"B14","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1007\/s11657-021-00879-9","article-title":"Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the gulf cooperation council countries","volume":"16","author":"Al Juraibah","year":"2021","journal-title":"Arch Osteoporos"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199206000-00002","article-title":"The mos 36-item short-form health survey (Sf-36). I. Conceptual framework and item selection","volume":"30","author":"Ware","year":"1992","journal-title":"Med Care"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-200108000-00006","article-title":"Pedsql 4.0: reliability and validity of the pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations","volume":"39","author":"Varni","year":"2001","journal-title":"Med Care"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1023\/a:1014836921812","article-title":"The pedsql 4.0 generic core scales: sensitivity, responsiveness, and impact on clinical decision-making","volume":"25","author":"Varni","year":"2002","journal-title":"J Behav Med"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199803000-00018","article-title":"Reliability of an arabic version of the rand-36 health survey and its equivalence to the us-english version","volume":"36","author":"Coons","year":"1998","journal-title":"Med Care"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-6712.2011.00889.x","article-title":"Cross-cultural validation of the pediatric quality of life inventory 4.0 (Pedsql) generic core scale into arabic language","volume":"25","author":"Arabiat","year":"2011","journal-title":"Scand J Caring Sci"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.6.573","article-title":"Genomic organization of the human pex gene mutated in X-linked dominant hypophosphatemic rickets","volume":"7","author":"Francis","year":"1997","journal-title":"Genome Res"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.83.10.5180","article-title":"Mutational analysis of phex gene in X-linked hypophosphatemia","volume":"83","author":"Dixon","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-4180-3","article-title":"Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia","volume":"34","author":"Hernandez-Frias","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4035","article-title":"Functional characterization of phex gene variants in children with X-linked hypophosphatemic rickets shows no evidence of genotype-phenotype correlation","volume":"35","author":"Zheng","year":"2020","journal-title":"J Bone Miner Res"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0661","article-title":"Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms","volume":"174","author":"Che","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02620-w","article-title":"Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the uk","volume":"18","author":"Cole","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.2147\/PPA.S391025","article-title":"Young xlh patients-reported experience with a supportive care program","volume":"17","author":"Rothenbuhler","year":"2023","journal-title":"Patient Prefer Adherence"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1136\/rmdopen-2021-001714","article-title":"Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension","volume":"7","author":"Briot","year":"2021","journal-title":"RMD Open"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-022-06318-w","article-title":"Physical function and physical activity in adults with X-linked hypophosphatemia","volume":"33","author":"Orlando","year":"2022","journal-title":"Osteoporos Int"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvab070","article-title":"Patient-reported complications, symptoms, and experiences of living with X-linked hypophosphatemia across the life-course","volume":"5","author":"Cheung","year":"2021","journal-title":"J Endocr Soc"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab282","article-title":"Incidence of complications in 25 adult patients with X-linked hypophosphatemia","volume":"106","author":"Kato","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.3390\/endocrines3030047","article-title":"Complications and treatments in adult X-linked hypophosphatemia","volume":"3","author":"Imanishi","year":"2022","journal-title":"Endocrines"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1136\/rmdopen-2022-002676","article-title":"Benefit of burosumab in adults with X-linked hypophosphataemia (Xlh) is maintained with long-term treatment","volume":"9","author":"Kamenicky","year":"2023","journal-title":"RMD Open"},{"key":"B33","first-page":"P74","article-title":"Burosumab can improve pain and quality of life for children with X-linked hypophosphataemia and their families: A london centre\u2019s experience","author":"Gilbey-Cross","year":"2019"},{"key":"B34","doi-asserted-by":"publisher","first-page":"104958","DOI":"10.1016\/j.ejmg.2024.104958","article-title":"Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets","volume":"70","author":"Baroncelli","year":"2024","journal-title":"Eur J Med Genet"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-024-00926-x","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia","author":"Haffner","year":"2025","journal-title":"Nat Rev Nephrol"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2025.1544016\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T07:57:27Z","timestamp":1744617447000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2025.1544016\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,14]]},"references-count":35,"alternative-id":["10.3389\/fendo.2025.1544016"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2025.1544016","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,14]]},"article-number":"1544016"}}