Wilson's Disease

Diagnosis

Diagnosis of Wilson's disease can be challenging as symptoms mimic other diseases and may gradually appear over time. Symptoms of Wilson's disease can arise as early as childhood and vary depending on which area of your body is affected. It is important to diagnose Wilson's disease early before the condition leads to life-threatening illness.

There is no single test for diagnosing Wilson's disease; rather, Mayo Clinic doctors evaluate your symptoms along with diagnostic testing to make a diagnosis.

Diagnostic tests for Wilson's disease may include:

• Blood tests — To monitor liver function and look for protein levels of serum ceruloplasmin and serum copper in the blood stream.
• Urine test — To measure the amount of copper excreted in your urine over a 24-hour period.
• Eye test — Used on people with neurologic symptoms, the slit-lamp eye examination looks for rusty-brown colored rings in the cornea (Kayser-Fleisher rings).
• Brain scan — A CT or MRI is used to create images of your brain and look for neurologic damage.
• Liver biopsy — A thin needle is used to remove a small tissue sample from your liver and test for excess copper.
• Genetic testing (DNA mutation analysis) — A small amount of blood is drawn and used to identify the genetic mutations that cause Wilson's disease.

Screening

If you have been diagnosed with Wilson's disease, genetic screening is recommended for your family members to identify the presence of abnormal genes and, if needed, to begin treatment before any debilitating symptoms arise. Mayo Clinic offers genetic screening tests for Wilson's disease.

Read more about symptoms and diagnosis of Wilson's disease on MayoClinic.com.