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

Afaf Alsaghier ^1,2* Bassam Bin-Abbas ^1,2 Nujud M. Alghamdi ¹ Raghad Alhuthil ¹ Sarah A. Murad ³ Tala H. Husein ² Zulf Mughal ⁴ Zehour E. Alsabban ³ Layla M. Almarzoug ⁵ Khushnooda Ramzan ¹

• ¹ King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
• ² Alfaisal University, Riyadh, Saudi Arabia
• ³ King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
• ⁴ Al Jalila Children's Speciality Hospital, Dubai, United Arab Emirates
• ⁵ Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia

X-linked hypophosphatemia (XLH) is a lifelong, progressive genetic condition affecting patients' physical health and quality of life. This observational cohort 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 findings 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. 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. These findings 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 identification of cases and early initiation of treatment.