ESPEYB25 5. Bone, Growth Plate and Mineral Metabolism Advances in Clinical Practice (6 abstracts)
5.6. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Haffner D , Emma F , Seefried L , Högler W , Javaid , KM W , Bockenhauer D , Bacchetta J , Eastwood D , BiosseDuplan M , Schnabel D , Wicart P , Ariceta G , Levtchenko E , Harvengt P , Kirchhoff M , Gardiner O , Di Rocco F , Chaussain C , Brandi ML & Linglart A
Nature Reviews. Nephrology, (2025). 21(5), 330-354. https://doi.org/10.1038/s41581-024-00926-x
Brief Summary: This paper provides updated clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia (XLH), based on a comprehensive literature review and expert consensus.
Commentary: X-linked hypophosphataemia (XLH) is a rare genetic metabolic bone disorder primarily caused by pathogenic variants in PHEX. This leads to increased levels of fibroblast growth factor 23 (FGF23). The resulting excess FGF23 causes renal phosphate wasting and a range of debilitating symptoms, including rickets, osteomalacia, bone pain and dental issues. Historically, treatment involved frequent doses of oral phosphate supplements and active vitamin D, which were only partially effective and had significant side effects, including hyperparathyroidism and nephrocalcinosis.
XLH management has evolved significantly with the development of burosumab, a humanised monoclonal antibody that neutralises circulating FGF23. This study provides updated, evidence-based clinical practice recommendations reflecting the latest treatment advancements, particularly the widespread availability of burosumab since 2018. The main advance highlighted is the shift towards using burosumab as the primary treatment for children with symptoms, due to its superior ability to normalise phosphate levels, improve rickets and reduce associated complications. For adults, it is recommended for individuals with pseudofractures, an inadequate response to conventional therapy, or significant adverse effects from traditional treatments. This study also offers guidance on the diagnosis, monitoring and management of various XLH manifestations across different age groups, as well as considerations for specific situations such as pregnancy and orthopaedic interventions.
Volume 22
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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