Hereditary, Progressive, and Lifelong

X-LINKED HYPOPHOSPHATEMIA (XLH)

XLH is a disease characterized by chronic hypophosphatemia due to increased fibroblast growth factor (FGF23) activity, resulting in skeletal defects, muscular dysfunction, and dental abnormalities.1,2

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Symptoms of XLH progressing from childhood to adulthood

XLH affects lives

Patients experience functional challenges in daily life due to poor bone mineralization, leading to deteriorating skeletal, muscular, and dental health.1,2

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Common symptoms of XLH like rickets, osteomalacia, bowing, enthesopathy

Increased FGF23 activity — the underlying cause of XLH

Increased FGF23 activity leads to chronic hypophosphatemia manifesting as rickets and osteomalacia in children and osteomalacia in adults, the sources of progressive and compounding symptoms of XLH.1-3

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XLH skeletonXLH skeleton

XLH expert speaking

Hear from an XLH expert, Dr. Thomas Carpenter, Professor of Pediatric Endocrinology.

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References:

1. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 2. Ruppe MD. X-Linked Hypophosphatemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 3. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-30.