The Thai Society for Pediatric Endocrinology, DKSH Business Unit Healthcare, the Thai Rare Disease Foundation and the XLH Community join to raise awareness of X-linked hypophosphatemia (XLH), a rare genetic bone disorder caused by low level of phosphate that can lead to skeletal deformities, impaired growth, and chronic pain. The initiative underscores the importance of early diagnosis and timely treatment. It also highlights advancements in diagnostic testing and treatment options, offering renewed hope to patients and their families.

XLH is a rare inherited bone disorder caused by mutations in the PHEX gene, leading to elevated levels of fibroblast growth factor 23 (FGF23) and chronic phosphate loss. The condition can result in bone deformities, impaired growth, chronic pain, and psychosocial challenges. While XLH remains a rare condition and is difficult to diagnose, many patients receive a late diagnosis and develop bone disorders. Increasing awareness among parents, caregivers, and frontline healthcare professionals plays a key role in identifying symptoms early and initiating appropriate care to prevent irreversible complications and improve long-term quality of life.

In Thailand, genetic testing capabilities have improved significantly. However, access and affordability remain ongoing challenges, underscoring the need for continued policy support. The diagnosis can only be carried out at tertiary and teaching hospitals, while the screening cost is high and cannot be reimbursed. The therapies for XLH patients include Phosphate syrup, vitamin D tablets and an anti-FGF23 treatment. It is expected that by 2026, phosphate syrup will be replaced by phosphate tablets as it is difficult for children to maintain due to frequent dosing and poor palatability. Phosphate tablets are more convenient and require less frequent dosing. Moreover, two real-world patients shared during the event that they experienced meaningful improvements in quality of life, mobility, and bone density, following access to the anti-FGF23 treatments.

Addressing Challenges Through Policy and CollaborationMedical experts and patient advocates highlighted the importance of continued policy action, including XLH registration, improvement in patient transfers and telemedicine models to reduce travel burdens for patients outside major cities. Additional priorities include expanding benefit coverage for genetic testing and breakthrough XLH therapies in order to support sustainable access to diagnostic testing and future treatments.

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