Diagnosing X-linked hypophosphatemia in children

An early and accurate diagnosis of XLH is critical

XLH is a progressive disease, so it helps to get an early and accurate diagnosis in order to manage it.

XLH frequently manifests in the first two years of life, when a child begins walking. However, due to the rarity of XLH and the fact that the symptoms are seemingly unrelated, a diagnosis may be delayed until adulthood.

Diagnosis is based on tests and family history

It can be helpful to conduct certain tests, including those that measure the amount of phosphorus in the blood.
Doctors may ask for your child to fast before taking this test.

Doctors can diagnose XLH using:

Blood tests for
phosphorus levels

X-rays

Genetic testing

Taking a family history

Since XLH is a hereditary condition, specialists will ask for a family history to find out if any relatives have similar symptoms.

Genetic counselling for XLH

Getting diagnosed with a genetic disorder like XLH can be overwhelming. Genetic counsellors can provide information on how to:

Manage XLH
Identify family members who may be at risk
Access patient support organizations

The doctors who diagnose and manage XLH

XLH is a lifelong rare disease, so it helps to find doctors who are knowledgeable about the condition. There are different types of specialized doctors that can identify XLH and provide personalized care, including: