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

Find out more about XLH

X-linked hypophosphatemia symptom progression from childhood to adulthood

Expert video: treating adults with X-linked hypophosphatemia

Hear from an XLH expert, Dr. Erik Imel,
Associate Professor of Medicine and Pediatrics.

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the underlying cause of XLH

XLH is a progressive disease that can start in early childhood and have compounding symptoms into adulthood. A genetic variation of the PHEX gene causes an increase in FGF23, which leads to hypophosphatemia.1-3

 

LEARN ABOUT THE UNDERLYING CAUSE

UNDERSTAND THE IMPACT OF XLH

Chronic hypophosphatemia manifests as rickets and osteomalacia in children and osteomalacia in adults, the sources of progressive and compounding symptoms of XLH.1,2

 

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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®. University of Washington, Seattle; 1993-2022. Published February 9, 2012. Updated April 13, 2017. https://www.ncbi.nlm.nih.gov/books/NBK83985/ 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.