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

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 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

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.