ArticleQuality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation2020
Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study.
Article in Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment.RMD open · 2023Trial
- Trial
- 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
- Diagnostic Performance of Somatostatin Receptor-directed PET/CT for Tumor-induced Osteomalacia.Molecular imaging and biology · 2026Article
- Pain medication use in patients with X-linked hypophosphatemia treated with burosumab: a retrospective real-world study.JBMR plus · 2026Article
- Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry.JBMR plus · 2026Article
- Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.Orphanet journal of rare diseases · 2026Article
- Observational
- XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region.Clinical medicine insights. Endocrinology and diabetes · 2026Article
- What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey.JBMR plus · 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
- Article
- 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
- Qualitative analysis of pain impact in adult patients with X-linked hypophosphatemia.JBMR plus · 2025Article
- Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers.Kidney international reports · 2025Article
- XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes.Orphanet journal of rare diseases · 2025Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionX-linked hypophosphatemia (XLH) is a rare, lifelong, progressive disease characterised by renal phosphate wasting and abnormal bone mineralisation. Symptoms begin in early childhood, with the development of rickets and related skeletal deformities and reduced growth, progressing to long-term complications, including pseudofractures and fractures, as well as pain, stiffness and fatigue. The present study was designed to explore the patient experience of pain, stiffness and fatigue and the psychosocial impact of XLH in detail.
methodsA cross-sectional qualitative study was conducted in the United Kingdom (18), Finland (6), France (4), Germany (1) and Luxembourg (1) with XLH patients aged 26 and over. Interview discussion guides were developed in consultation with clinical experts and patient associations. Data were analysed thematically.
resultsParticipants (N = 30) described pain, stiffness and fatigue as frequently experienced symptoms with a significant impact on physical functioning and activities of daily living (ADLs). Some also described the symptoms as impacting their mood/mental health, relationships, social life and leisure activities. Participants described how common symptoms could interact or aggravate other symptoms. Symptoms had often worsened over time, and for many, were associated with concern about the future. Most participants were worried or felt guilty about having children with XLH. The findings confirmed and extended the existing model of the burden of XLH.
conclusionThe present study is the first to provide an in-depth analysis of pain, stiffness and fatigue, their impact and the interrelatedness of these symptoms among adults with XLH. The study also described the psychosocial impact of XLH as a hereditary, lifelong progressive disease.
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