X-linked Hypophosphatemia. Orthopedic Management in a multidisciplinary setting

Journal and index pages often block iframe embedding. This reader keeps the evidence details in Orthonotes and leaves the source page one click away.

Abstract

X-linked hypophosphatemia is a rare disorder of bone metabolism caused by inactivating mutations in the PHEX. Conservative therapies such as treatment with phosphate salts or FGF23-inhibiting antibodies can improve symptoms, the latter being superior to the healing of rickets. Recent studies show a high burden of disease of children and adults with XLH. Orthopedic surgeons should be aware that lower limb deformity in early childhood can present as the first symptom of XLH and should prompt further diagnostics and treatment. Treatment needs to be coordinated with pediatric endocrinologists. The optimal and adequate planning of orthopedic interventions seem to be key factors which may lead to a satisfactory result.