Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need.

ABSTRACT: X-linked hypophosphatemia (XLH) is a phosphate-wasting disorder mediated by increased fibroblast growth factor 23 (FGF23) activity. Typical clinical features are skeletal deformities, muscle weakness, stiffness, and impaired physical function. Using real-world data from the XLH Disease Monitoring Program (XLH-DMP) and the International XLH Registry, this study sought to determine whether the age at which XLH is diagnosed differs between children with and without a family history of the disease. In both real-world studies, children with a family history of XLH were diagnosed at a younger age than those without a family history (XLH-DMP [n = 347]: mean age at diagnosis 1.6 [standard error (SE) 0.2] vs 2.7 [SE 0.2] years [p < .001]; International XLH Registry [n = 360]: mean age at dia

SUBMITTER: Uday S 

PROVIDER: S-EPMC12579927 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature