Diagnosing Wilson's disease can be challenging because its signs and symptoms are often hard to tell from those of other liver diseases, such as hepatitis. Also, symptoms can evolve over time. Behavioral changes that come on gradually can be especially hard to link to Wilson's.
Doctors rely on a combination of symptoms and test results to make the diagnosis. Tests and procedures used to diagnose Wilson's disease include:
- Blood and urine tests. Blood tests can monitor your liver function and check the level of a protein that binds copper in the blood (ceruloplasmin) and the level of copper in your blood. Your doctor also might want to measure the amount of copper excreted in your urine during a 24-hour period.
- Eye exam. Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks your eyes for Kayser-Fleischer rings, which is caused by excess copper in the eyes. Wilson's disease also is associated with a type of cataract, called a sunflower cataract, that can be seen on an eye exam.
- Removing a sample of liver tissue for testing (biopsy). Your doctor inserts a thin needle through your skin, into your liver and draws a small sample of tissue. A laboratory tests the tissue for excess copper.
- Genetic testing. A blood test can identify the genetic mutations that cause Wilson's disease. Knowing the mutations in your family allows doctors to screen siblings and begin treatment before symptoms arise.
Your doctor might recommend medications called chelating agents, which bind copper and then prompt your organs to release the copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Treatment then focuses on preventing copper from building up again. For severe liver damage, a liver transplant might be necessary.
If you take medications for Wilson's disease, treatment is lifelong. Medications include:
- Penicillamine (Cuprimine, Depen). A chelating agent, penicillamine can cause serious side effects, including skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. Penicillamine should be used cautiously if you have a penicillin allergy. It also keeps vitamin B-6 (pyridoxine) from working, so you'll need to take a supplement in small doses.
- Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, neurological symptoms can worsen when taking trientine.
Zinc acetate (Galzin). This medication prevents your body from absorbing copper from the food you eat. It is typically used as maintenance therapy to prevent copper from building up again after treatment with penicillamine or trientine.
Zinc acetate might be used as primary therapy if you can't take penicillamine or trientine. Zinc acetate can cause stomach upset.
Your doctor might also recommend other medications for symptom relief.
If your liver damage is severe, you might need a liver transplant. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor.
Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of the donor's liver.
Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.
Lifestyle and home remedies
If you have Wilson's disease, your doctor will likely recommend that you limit the amount of copper you consume in your diet. You might also want to have your tap water's copper levels tested if you have copper pipes in your home. And be sure to avoid multivitamins that contain copper.
Foods that contain high amounts of copper include:
Preparing for your appointment
You'll likely first see your family doctor or a general practitioner. You then might be referred to a doctor who specializes in the liver (hepatologist).
What you can do
When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet for blood tests.
Make a list of:
- Your symptoms and when they began
- Key personal information, including major stresses, other medical conditions you have and any family history of Wilson's disease
- All medications, vitamins or other supplements you take, including doses
- Questions to ask your doctor
Take a family member or friend along, if possible, to help you remember the information you're given.
For Wilson's disease, questions to ask your doctor include:
- What tests do I need?
- What treatment do you recommend?
- What are the side effects of the recommended treatment?
- Are there other treatment options?
- I have these other health conditions. How can I best manage them together?
- Are there restrictions I need to follow?
- Should I see a specialist?
- Should my family be tested for Wilson's disease?
- Are there brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions.
What to expect from your doctor
Your doctor is likely to ask you several questions, such as:
- Have your symptoms been continuous or occasional?
- How severe are your symptoms?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?