SKELETAL DEFECTS
Chronic hypophosphatemia is persistent among adults with XLH and may manifest as symptoms such as:
Persistent childhood symptoms






New symptoms in adulthood





The lifelong presence of elevated FGF23 activity causes unresolved childhood symptoms to continue to progress into adulthood, paired with new, potentially irreversible symptoms that can appear due to ongoing active disease.1,2
Chronic hypophosphatemia is persistent among adults with XLH and may manifest as symptoms such as:
In addition to poor bone health, chronic hypophosphatemia continues to affect the muscles in the body.5 Adults may present with:
Chronic hypophosphatemia can also lead to dental defects by causing enlargement of the pulp chambers and erosion of the enamel.4 Symptoms manifest as:
Watch Dr. Carpenter discuss the chronic symptoms in adults with XLH.
Watch Dr. Imel discuss his experiences managing chronic symptoms of XLH.
1. Carpenter TO, Imel EA, Holm IA, et al. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 2. 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. 3. Ruppe MD, Zhang X, Imel EA, et al. Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. Bone Rep. 2016;5:158-162. 4. 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/ 5. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334.