Diagnosis of XLH

XLH diagnosis

Diagnosis of XLH

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 is typically diagnosed during childhood, usually around 1 to 2 years of age, 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.

You are your own best advocate. If you feel like something is wrong with your or your child’s health, talk to a doctor or healthcare professional.

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. Your doctor may require you to fast before taking this test.

Your doctor can diagnose XLH using:

Blood tests for phosphorus levels

X-rays

Genetic testing

Your doctor will also ask about your family history

Since XLH is a hereditary condition, your doctor will start by asking you about other family members. The goal is to find out if any of your relatives have similar symptoms to yours.

Genetic counseling for XLH

Getting diagnosed with a genetic disorder like XLH can be overwhelming. Genetic counselors can help you:

Manage your condition
Identify family members at risk
Connect you with patient support organizations

The doctors who diagnose and treat XLH

XLH is a lifelong rare disease, so it helps to find doctors who are knowledgeable about the condition. It’s also important to find a care team you are comfortable with so you can voice any of your XLH-related questions or concerns. There are different types of specialized doctors that can identify XLH and provide you with the personalized care you need, including:

Endocrinologists

Specialize in treating disorders that affect hormones

Rheumatologists

Specialize in treating disorders that affect the joints and muscles

Nephrologists

Specialize in treating disorders that affect the kidneys

Geneticists

Specialize in treating genetic disorders

Find an XLH specialist

Locate a doctor who specializes in diagnosing and treating XLH. By staying informed and actively engaging with a healthcare team, you can better understand how to manage XLH.

Find a specialist

Now that you know how XLH is diagnosed, take the next step:

Prepare for your visit

Find out what to expect during your appointment.

Emily and her young daughter Isla, both living with XLH, holding hands on the beach

Set goals for XLH management

Learn about XLH management goals and options.

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Explore resources

Download resources to support your XLH journey.

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