FrançaisSymptoms of XLH in adults
Most adults with XLH have been living with symptoms since childhood and may develop new complications later in life. Over time, they may get used to the chronic pain, fatigue, and muscle dysfunction.1 As a chronic and progressive disease, XLH requires careful monitoring of symptoms.2,3
Existing symptoms from childhood1,3
Osteomalacia
Lower extremity abnormalities (leg bowing, knock knees, windswept deformities)
Short stature
Pain
Skeletal pain
Chiari malformations
Another existing symptom from childhood includes:1
- Craniosynostosis
Symptoms experienced in adulthood1
Fractures and pseudofractures
Hearing loss
Other symptoms in adulthood includes:3
- Enthesopathy or the calcification of ligaments, tendons, and joint capsules
- Spinal stenosis
- Osteoarthritis
Muscular dysfunction
Chronic hypophosphatemia also affects the muscles in the body.
Muscular symptoms present as:1
Stiffness
Pain
Muscle pain and weakness
Gait disturbances
Dental abnormalities
Chronic hypophosphatemia can lead to dental defects by causing enlargement of the pulp chambers and damage to the enamel.1
Dental symptoms present as:1,2
Dental abscesses and periodontitis
Because some symptoms of XLH like chronic pain or fatigue may not be visible, it is important to listen to your patients. Getting an accurate diagnosis can help prevent exacerbation of symptoms that your patient may experience.
XLH progression in real patients
49-year-old male with hereditary XLH
Learn moreConnect the symptoms
The disease burden of XLH
Understand more about how XLH impacts the lives of patients.
Diagnosing XLH
Learn more about how to diagnose XLH through testing.
XLH resources and community
Find resources for you and your patients to understand more about this rare condition.
References:
1. Dahir K, et al. J Endocr Soc. 2020;4(12):bvaa151. 2. Hamilton AA, et al. J Endocr Soc. 2022;6(8):bvaa086. 3. Haffner D,et al. Nat Rev Nephrol. 2019;15(7):435-455.