ArticleFrontiers in endocrinology2025
Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study.
Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry.JBMR plus · 2026Article
- X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives.Journal of clinical medicine · 2025Article
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10 authors.
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Abstract
Introduction: X-linked hypophosphatemia (XLH) is a lifelong, progressive genetic condition affecting patients' physical health and quality of life. Methods: 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. Results: Our results showed low quality of life for the adults and children, with mean SF-36 and PedsQL (8-18 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 35-55 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. Discussion: 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.
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