AUTHOR=Alsagheir Afaf I. , Bin-Abbas Bassam , Alghamdi Nujud M. , Alhuthil Raghad T. , Murad Sarah A. , Husein Tala H. , Mughal M. Zulf , Alsabban Zehour E. , Almarzoug Layla M. , Ramzan Khushnooda 

TITLE=Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2025.1544016

DOI=10.3389/fendo.2025.1544016

ISSN=1664-2392

ABSTRACT=IntroductionX-linked hypophosphatemia (XLH) is a lifelong, progressive genetic condition affecting patients’ physical health and quality of life.MethodsThis 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.ResultsOur 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.DiscussionThese 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.