ArticleThe Journal of clinical endocrinology and metabolism2020
Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2025Pooled 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
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records.European journal of human genetics : EJHG · 2026Review
- Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X-Linked Hypophosphatemia in Mice.Journal of periodontal research · 2026Article
- Observational
- A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022).Orphanet journal of rare diseases · 2025Article
- Rickets prevalence and treatment outcome: real-world data from Taiwan.Clinical and experimental pediatrics · 2025Article
- Long-term epidemiological insights into rickets: a nationwide population-based retrospective study.Clinical and experimental pediatrics · 2025Article
- X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab.Orphanet journal of rare diseases · 2025Review
- 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 characteristics & disease history of patients with X-linked hypophosphatemia before treatment with burosumab.Archives of osteoporosis · 2025Article
- 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
- Advancing patient evidence in XLH (APEX): rationale and design of a real-world XLH global data unification program.Frontiers in endocrinology · 2025Article
- A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia.Frontiers in health services · 2025Review
- Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.Journal of the Endocrine Society · 2024Article
- Longitudinal assessment of physical function in adults with X-linked hypophosphatemia following initiation of burosumab therapy.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundX-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aim here to improve understanding of the prevalence of XLH across the life course and of overall survival among people with XLH.
methodsThis was a population-based cohort study using a large primary care database in the United Kingdom (UK) from 1995 to 2016. XLH cases were matched by age, gender, and practice to up to 4 controls. Trends in prevalence over the study period were estimated (stratified by age) and survival among cases was compared with that of controls.
findingsFrom 522 potential cases, 122 (23.4%) were scored as at least possible XLH, while 62 (11.9%) were classified as highly likely or likely (conservative definition). In main analyses, prevalence (95% CI) increased from 3.1 (1.5-6.7) per million in 1995-1999 to 14.0 (10.8-18.1) per million in 2012-2016. Corresponding estimates using the conservative definition were 3.0 (1.4-6.5) to 8.1 (5.8-11.4). Nine (7.4%) of the possible cases died during follow-up, at median age of 64 years. Fourteen (2.9%) of the controls died at median age of 72.5 years. Mortality was significantly increased in those with possible XLH compared with controls (hazard ratio [HR] 2.93; 95% CI, 1.24-6.91). Likewise, among those with likely or highly likely XLH (HR 6.65; 1.44-30.72).
conclusionsWe provide conservative estimates of the prevalence of XLH in children and adults within the UK. There was an unexpected increase in mortality in later life, which may have implications for other fibroblast growth factor 23-related disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.