Hereditary, Progressive, and Lifelong

X-LINKED HYPOPHOSPHATAEMIA (XLH)

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

Find out more about XLH

Symptoms of XLH progressing from childhood to adulthood

XLH expert speaking

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

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Increased FGF23 activity — the underlying cause of XLH

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

 

Learn more about FGF23

XLH BEGINS IN CHILDHOOD

Rickets and osteomalacia create a significant burden in the daily lives of children.2

 

Impact on Children

 

XLH PROGRESSES IN ADULTHOOD

Unresolved symptoms of XLH continue to progress into adulthood, and new symptoms may appear at any age due to ongoing active disease.1

 

Impact on Adults

References:

1. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphataemia. 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 hypophosphataemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-30.