Signs and symptoms
Ongoing, active XLH continues to have an impact on the bones, muscles, and teeth throughout adulthood
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.
Symptoms of XLH in adults
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. Over time, new or worsening symptoms can appear if left unresolved from childhood.
Osteomalacia, which is the softening of bones due to poor mineralization
Bone and joint pain
Lower limb abnormalities such as bowed legs and knock-knees
Irregularities in the shape of the head, called craniosynostosis
Headaches, often due to a condition called Chiari malformation where brain tissue may occupy space in part of the spinal canal
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)