Signs and symptoms of XLH in adults

Jason, living with XLH

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

A diagnosis of XLH may have occurred during childhood, but the effects of an ongoing disease do not go away with time. New symptoms may continue to appear or existing symptoms may worsen over time, which can limit the body’s movements. Understanding the progression of the disease and how XLH 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

Bone and joint pain

Lower extremity deformities like bowed legs and knock-knees

Irregular head shape is a symptom of XLH

Irregularities in the shape of the head, called craniosynostosis

Headaches may be from Chiari malformations due to XLH

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

The manifestation of 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

Hearing loss

Impact on daily life

As the disease progresses, these symptoms can also manifest, invoke pain and pose limitations in the body’s range of movements

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.