Health-Related Quality of Life in Children and Adolescents with X-Linked Hypophosphatemia (XLH) at Universiti Malaya Medical Centre
https://doi.org/10.15605/jafes.041.S1
- Author:
Nur Syafiqah Hamizi
1
;
Muhammad Yazid Jalaludin
2
;
Mohd Shafiq Azanan
2
;
Nur Sabrina Rusli
2
Author Information
1. Universiti Malaya Medical Center;Ministry of Health Malaysia
2. Universiti Malaya Medical Center
- Publication Type:Journal Article
- MeSH:
Adolescent;
Child;
Familial Hypophosphatemic Rickets;
Malaysia;
Quality of Life
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):126-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, characterized by chronic
hypophosphatemia and renal phosphate wasting, resulting in skeletal, dental, and extra-skeletal complications. To date,
no data from Malaysia are currently available on clinical characteristics or health-related quality of life (HRQoL) in
paediatric patients.
Methodology:This cross-sectional study evaluated HRQoL among children and adolescents with XLH, using validated PROMIS (PatientReported Outcomes Measurement Information System) instruments, sociodemographic and clinical factors associated
with HRQoL. This includes children and adolescents with confirmed XLH followed up at Universiti Malaya Medical
Centre (UMMC) between November 2024 and March 2025.
Results:Seventeen patients were analyzed (76.5% female and 23.5% male). The mean age at symptom onset was 2.82 ± 2.42 years,
with a mean age at diagnosis of 5.21 ± 3.29 years. All patients continued to have musculoskeletal complications, including
short stature (76.5%), bowing of legs (76.5%), bone/joint pain (47.1%), muscle pain (47.1%), and dental complications (52.9%).
Serum alkaline phosphatase improved significantly (p = 0.011); persistent hypophosphatemia and ongoing musculoskeletal
manifestations indicated suboptimal disease control. Elevated parathyroid hormone levels and an increase in urine calciumto-creatinine ratio (p = 0.020) lead to secondary hyperparathyroidism and nephrocalcinosis. Adherence to conventional
therapy was poor. Non-adherence was associated with worse pain outcomes (higher pain interference [p = 0.037] and greater
pain intensity [p = 0.025]). PROMIS scores revealed severely impaired mobility (mean T-score 31.31 ± 12.17), increased
fatigue (mean T-score 54.22 ± 7.60), and high pain interference (mean T-score 63.11 ± 9.50). Larger household size was also
strongly associated with higher pain intensity (p = 0.004).
Conclusion:Malaysian children and adolescents with XLH continue to have significantly poor HRQoL, particularly in mobility, fatigue,
and pain. These findings highlight the need for access to targeted therapies, such as burosumab, to improve long-term
outcomes and QOL in XLH patients.
- Full text:2026080510201212991OP_P004.pdf
