Unresolved childhood symptoms of XLH may continue to manifest in adulthood

XLH is not merely a pediatric disease

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

SKELETAL DEFECTS
MUSCULAR DYSFUNCTION
DENTAL ABNORMALITIES

SKELETAL DEFECTS

Chronic hypophosphatemia is persistent among adults with XLH and may manifest as symptoms such as:

Persistent childhood symptoms

Osteomalacia^2-4

XLH symptoms in adults: leg bowing and knock-knees

Lower extremity abnormalities (leg bowing, knock-knees, windswept deformities)⁴

Short stature^2,4

Skeletal pain^2,3,5

Craniosynotosis^2,4

XLH symptom in adults: Chiari malformation

Chiari malformations^2,4

New symptoms in adulthood

Enthesopathy (feet, knees, Achilles, hips, neck, spine)^2-5

Spinal stenosis⁵

Osteoarthritis^2,3,5

$XLH symptoms in adults: fractures and pseudofractures$

Fractures and pseudofractures^2,3

Hearing loss^2,4

MUSCULAR DYSFUNCTION

In addition to poor bone health, chronic hypophosphatemia continues to affect the muscles in the body.⁵ Adults may present with:

XLH symptoms in adults: muscle pain, stiffness, and weakness

Stiffness, pain, and weakness⁵

Waddling gait⁵

DENTAL ABNORMALITIES

Chronic hypophosphatemia can also lead to dental defects by causing enlargement of the pulp chambers and erosion of the enamel.⁴ Symptoms manifest as:

XLH symptom in adults: dental abscesses

Dental abscesses^3,4

XLH symptom in adults: periodontitis

Periodontitis²

EXPERT OPINIONS ON ADULTS WITH XLH

DR. THOMAS CARPENTER — XLH Treatment in adults with Dr. Carpenter

Watch Dr. Carpenter discuss the chronic symptoms in adults with XLH.

DR. ERIK IMEL — Treating adults with XLH: Dr. Imel Shares His Experience

Watch Dr. Imel discuss his experiences managing chronic symptoms of XLH.

See the burden of XLH in childrens’ lives

References:

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.