Occupational therapy is highly recommended for people with X-linked hypophosphatemia (XLH), a rare genetic disease characterized by rickets-like symptoms due to inadequate phosphate levels.

Occupational therapists can help patients and their family members and caregivers in overcoming difficulties encountered in daily life activities.

How does XLH affect the body?

XLH is caused by mutations in the PHEX gene, situated on the X chromosome. These defects result in elevated levels of FGF23, a protein that regulates phosphate reabsorption by the kidneys. Subsequently, phosphate is lost with urine and its levels in the body drop.

Phosphate is essential for bone health, and XLH symptoms include osteomalacia (soft and weak bones), early osteoarthritis, fractures, chronic pain, bowed legs, and stunted growth. Each can severely affect how well a person goes about everyday activities at home, school, the workplace, and in their free time.

How does occupational therapy work?

An occupational therapist will recommend approaches based on a patient’s symptoms and the everyday activities affected by the disease. These therapists are skilled in developing strategies related to self-care, home management, and school, work, and leisure activities.

The recommendations they make could include:

  • Doing activities and exercises that improve motor skills, endurance, and strength
  • Modifying daily routines to ensure for adequate rest
  • Using aids and adaptations to help with activities at home, work, or school
  • Using orthotic devices on affected limbs, to ease pain and improve movement
  • Using specialist insoles and footwear to relieve foot and lower limb discomfort
  • Learning joint protection and energy conservation techniques
  • Using mobility aids, including walkers and wheelchairs, at the home, workplace and elsewhere
  • Using pain management modalities, like cold or hot packs
  • Modifying the home to make moving around easier, such as installing handrails and grab bars in hallways, stairs, and bathrooms


Last updated: Jan. 16, 2020


XLH News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.