ArticleOrphanet journal of rare diseases2022
Health-related quality of life of X-linked hypophosphatemia in Spain.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 3 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia.Frontiers in endocrinology · 2024Pooled it
- Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study.Calcified tissue international · 2026Observational
- Real-world effectiveness of burosumab across age groups: X-linked hypophosphatemia (XLH) Disease Monitoring Program.The Journal of clinical endocrinology and metabolism · 2026Article
- Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry.JBMR plus · 2026Article
- Pain medication use in patients with X-linked hypophosphatemia treated with burosumab: a retrospective real-world study.JBMR plus · 2026Article
- Observational
- What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey.JBMR plus · 2025Article
- A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022).Orphanet journal of rare diseases · 2025Article
- Increased lifelong burden of comorbidities without increased early mortality in hereditary hypophosphatemia: a Danish register study.JBMR plus · 2025Article
- Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.Journal of endocrinological investigation · 2025Article
- Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.Calcified tissue international · 2025Article
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.Nature reviews. Nephrology · 2025Review
- X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.Journal of paediatrics and child health · 2025Review
- Factors associated with impaired physical functionality in X-linked hypophosphatemia.JBMR plus · 2025Article
- Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.BMJ paediatrics open · 2025Article
- XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes.Orphanet journal of rare diseases · 2025Article
- Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study.Frontiers in endocrinology · 2025Article
- Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program.Frontiers in endocrinology · 2025Article
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHealth-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.
resultsWe 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.
conclusionsXLH 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.
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