Signs and symptoms of XLH in adults

Jason, living with XLH

Ongoing, active X-linked hypophosphatemia (XLH) continues to have an impact on the bones, muscles, and teeth throughout adulthood

XLH may have been diagnosed during childhood, but the effects of an ongoing condition do not go away with time. Osteomalacia, the softening and weakening of bones, continues into adulthood. As a result, new symptoms may continue to appear or existing symptoms may worsen over time, which can limit the body’s movements. Understanding the progression of XLH and how the symptoms may affect daily life can help you or your loved one prepare for the challenges ahead.

SEE THE SYMPTOMS OF XLH IN ADULTS THAT OCCUR IN:

BONES AND JOINTS

Phosphate plays an important role in the development and growth of the bones. Low phosphate levels in the blood result in poor bone mineralization, which can impact bone health and function.

Unresolved Childhood Symptoms

Short stature

Osteomalacia, which is the softening of bones due to poor mineralization

Bone and joint pain

Lower limb abnormalities like bowed legs and knock-knees

Irregularities in the shape of the head, called craniosynostosis

Headaches may be due to a condition called Chiari malformation, where brain tissue may occupy space in part of the spinal canal

Impact on daily life

Osteomalacia is the underlying cause of pain, stiffness, and impaired physical mobility

New Symptoms

Enthesopathy or mineralization of tendons and ligaments surrounding the Achilles, knees, hips, and spine

Early onset of osteoarthritis or inflammation in the bones and joints

Fractures and pseudofractures (a kind of fracture where the bone thickens at the site of an injury but is not completely broken)

Hearing loss caused by poor mineralization of the small bones in the ears

Impact on daily life

As XLH progresses, these symptoms can cause pain and limit movement

MUSCLES

Healthy bones support the normal development of muscles in the body. Low phosphate levels, which result in poor bone health, also have a related impact on the muscles’ ability to function properly.