Diagnosis of Wilson Disease

How do doctors diagnose Wilson disease?

Doctors diagnose Wilson disease based on your medical and family history, a physical exam, an eye exam, and tests.

Medical and family history

Your doctor will ask about your family and personal medical history of Wilson disease and other conditions that could be causing your symptoms.

Physical exam

During a physical exam, your doctor will check for signs of liver damage such as

• changes in the skin
• enlargement of the liver or spleen
• tenderness or swelling in the abdomen
• swelling in the lower legs, feet, or ankles, called edema
• yellowish color of the whites of the eyes

Eye exam

During a slit-lamp exam, a doctor will use a special light to look for Kayser-Fleischer rings in your eyes.

What tests do doctors use to diagnose Wilson disease?

Doctors typically use blood tests and a 24-hour urine collection test to diagnose Wilson disease. Doctors may also use a liver biopsy and imaging tests.

Blood tests

For a blood test, a health care professional will take a blood sample from you and send the sample to a lab.

Your doctor may order one or more blood tests, including tests that check amounts of

• ceruloplasmin, a protein that carries copper in the bloodstream. People with Wilson disease often have low ceruloplasmin levels, but not always.
• copper. People with Wilson disease may have lower than normal blood copper levels. Acute liver failure due to Wilson disease may cause high blood copper levels.
• liver enzymes alanine transaminase (ALT) and aspartate transaminase (AST). People with Wilson disease may have abnormal ALT and AST levels.
• red blood cells to look for signs of anemia.

Doctors may order a blood test to check for the gene mutations that cause Wilson disease if other medical tests don’t confirm or rule out a diagnosis of the disease.

24-hour urine collection test

For 24 hours, you will collect your urine at home in a special container that is copper-free, provided by a health care professional. A health care professional will send the urine to a lab, which will check the amount of copper in your urine. Copper levels in the urine are often higher than normal in people who have Wilson disease.

Liver biopsy

If the results of blood and urine tests don’t confirm or rule out a diagnosis of Wilson disease, your doctor may order a liver biopsy. During a liver biopsy, a doctor will take small pieces of tissue from your liver. A pathologist will examine the tissue under a microscope to look for features of specific liver diseases, such as Wilson disease, and check for liver damage and cirrhosis. A piece of liver tissue will be sent to a lab, which will check the amount of copper in the tissue.

Imaging tests

In people who have nervous system symptoms, doctors may use imaging tests to check for signs of Wilson disease or other conditions in the brain. Doctors may use

• magnetic resonance imaging (MRI), which uses radio waves and magnets to produce detailed images of organs and soft tissues without using x-rays
• computed tomography (CT) scan, which uses a combination of x-rays and computer technology to create images