X-linked hypophosphatemic osteomalacia

X-linked hypophosphatemic osteomalacia is a rare, hereditary metabolic bone disorder representing the adult skeletal manifestation of X-linked hypophosphatemia It primarily affects skeletally mature adolescents and adults, driven by loss-of-function variants in the *PHEX* gene that lead to excessive circulating fibroblast growth factor 23 (FGF23)

X-linked hypophosphatemic osteomalacia is a rare, hereditary metabolic bone disorder representing the adult skeletal manifestation of X-linked hypophosphatemia

It primarily affects skeletally mature adolescents and adults, driven by loss-of-function variants in the *PHEX* gene that lead to excessive circulating fibroblast growth factor 23 (FGF23) Clinically, affected patients present with generalized bone pain, persistent muscle weakness, pseudofractures, increased fracture susceptibility, early-onset enthesopathies, and impaired physical mobility

This excess hormone induces renal phosphate wasting and impairs active vitamin D synthesis, resulting in chronic hypophosphatemia and defective mineralization of mature bone matrix

This excess hormone induces renal phosphate wasting and impairs active vitamin D synthesis, resulting in chronic hypophosphatemia and defective mineralization of mature bone matrix Clinically, affected patients present with generalized bone pain, persistent muscle weakness, pseudofractures, increased fracture susceptibility, early-onset enthesopathies, and impaired physical mobility

Clinically, affected patients present with generalized bone pain, persistent muscle weakness, pseudofractures, increased fracture susceptibility, early-onset enthesopathies, and impaired physical mobility