Wilson's disease is a rare inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Symptoms typically begin between the ages of 12 and 23.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
Wilson's disease causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson's disease. They may include:
- Fatigue, lack of appetite or abdominal pain
- Jaundice, a yellowing of the skin and the whites of the eye
- A tendency to bruise easily
- Fluid buildup in the legs or abdomen
- Problems with speech, swallowing or physical coordination
- Uncontrolled movements or muscle stiffness
When to see a doctor
Make an appointment with your doctor if you have any signs and symptoms that worry you. If a family member has been diagnosed with Wilson's disease, your doctor may recommend tests to determine whether you may have Wilson's disease.
Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.
You may be at increased risk of Wilson's disease if your parents or siblings have been diagnosed with the condition. Ask your doctor whether you should undergo genetic testing to find out if you have Wilson's disease. Diagnosing the condition as early as possible dramatically increases the chances of successful treatment.
Wilson's disease can cause serious complications such as:
- Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver. The scar tissue makes it more difficult for the liver to function.
- Liver failure. Liver failure can occur suddenly (acute liver failure), or it can develop slowly over many years. If liver failure progresses, a liver transplant may be a treatment option.
- Persistent neurological problems. Neurological problems usually improve with treatment for Wilson's disease. However, some people may experience persistent neurological difficulty despite treatment.
- Kidney problems. Wilson's disease can damage the kidneys, leading to kidney problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
- Psychological problems. These problems may include personality changes, depression, bipolar disorder or psychosis.
You're likely to start by first seeing your family doctor or a general practitioner. If your doctor suspects you may have a liver problem, such as Wilson's disease, you may be referred to a doctor who specializes in the liver (hepatologist).
How to prepare
Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well-prepared for your appointment. To prepare for your appointment, try to:
- Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet for blood tests.
- Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Write down key personal information, including any major stresses, recent life changes and any family history of Wilson's disease.
- Make a list of all medications, vitamins or supplements you're taking.
- Take a family member or friend along, if possible. Sometimes it can be difficult to absorb all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
Questions to ask
Your time with your doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For Wilson's disease, some basic questions to ask your doctor include:
- What kinds of 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 any restrictions that I need to follow?
- Should I avoid alcohol or medications that might harm my liver?
- Should my family members be tested for Wilson's disease?
- Are there any brochures or other printed material that I can take with me? What websites do you recommend?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
Diagnosing Wilson's disease can be challenging because its signs and symptoms are often indistinguishable from those of other liver diseases, such as hepatitis. What's more, many symptoms may evolve over time rather than appear all at once. 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. Your doctor may recommend blood tests to monitor your liver function and check the copper levels in your blood. Your doctor also may want to measure the amount of copper excreted in your urine during a 24-hour time period.
- Eye exam. Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks your eyes for golden-brown discoloring (Kayser-Fleischer rings). The abnormal appearance is caused by deposits of excess copper in the eyes. Wilson's disease has also been 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. In a procedure called a liver biopsy, your doctor inserts a thin needle through your skin and into your liver. Your doctor draws out a small sample of liver tissue and sends it to a laboratory to test for excess copper.
- Genetic testing. A blood test can identify the genetic mutations that cause Wilson's disease. Knowing the Wilson's disease mutations in your family allows doctors to screen siblings and begin treatment before debilitating symptoms arise.
Your doctor may recommend medications called chelating agents, which prompt your organs to release 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. When liver damage is severe, a liver transplant may be necessary.
The most common medications used to treat Wilson's disease include:
- Penicillamine (Cuprimine, Depen). A chelating agent, penicillamine can cause serious side effects, including skin problems, bone marrow suppression and worsening of neurological symptoms.
- Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, there is a risk that neurological symptoms can worsen when taking trientine, though it's thought to be a lower risk than is penicillamine.
- Zinc acetate (Galzin). This medication prevents your body from absorbing copper from the food you eat. Zinc acetate can cause stomach upset.
For people with severe liver damage, a liver transplant may be necessary. 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.
If you have Wilson's disease, your doctor might 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:
- Experience. You benefit from a team of skilled doctors experienced in treating Wilson's disease. Mayo Clinic doctors see hundreds of people who have Wilson's disease each year.
- Coordinated care. Specialists in genetics, liver disease (hepatology), neurology, psychiatry, laboratory medicine and nutrition work together to provide comprehensive and coordinated care for people who have Wilson's disease. Doctor visits, testing and treatment are all available in one convenient location.
- Diagnostic expertise. Wilson's disease can be an extremely challenging disorder to diagnose. Experience and the most advanced testing techniques help Mayo Clinic doctors make timely and accurate diagnoses.
Mayo Clinic in Rochester, Minn., ranks #1 for digestive disorders in the U.S. News & World Report Best Hospitals rankings. Mayo Clinic in Scottsdale, Ariz., is ranked among the Best Hospitals and Mayo Clinic in Jacksonville, Fla., is ranked high performing for digestive disorders by U.S. News & World Report.
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Specialists in gastroenterology and hepatology care for patients with Wilson's disease at Mayo Clinic's campus in Arizona.
For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.
- U.S. Patients
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Specialists in gastroenterology and hepatology care for patients with Wilson's disease at Mayo Clinic's campus in Florida.
For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.
- U.S. Patients
- International Patients
Specialists in gastroenterology and hepatology care for patients with Wilson's disease at Mayo Clinic's campus in Minnesota.
For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.
- U.S. Patients
- International Patients
See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.
Mayo researchers have been instrumental in developing diagnostic tools and treatment strategies for people who have Wilson's disease.
See a link to publications by Mayo Clinic doctors on Wilson's disease on PubMed, a service of the National Library of Medicine.
Aug. 27, 2014
- Wilson disease. National Digestive Disease Information Clearinghouse. http://digestive.niddk.nih.gov/ddiseases/pubs/Wilson. Accessed June 6, 2014.
- Feldman M, et al. Sleisenger & Fordtran's Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 9th ed. Philadelphia, Pa.: Saunders Elsevier; 2010. http://www.clinicalkey.com. Accessed June 6, 2014.
- Ferri FF. Ferri's Clinical Advisor 2014: 5 Books in 1. Philadelphia, Pa.: Mosby Elsevier; 2014. https://www.clinicalkey.com. Accessed June 6, 2014.
- Goldman L, et al. Goldman's Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.clinicalkey.com. Accessed June 6, 2014.
- AskMayoExpert. Wilson disease. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2013.
- What I need to know about liver transplantation. National Digestive Disease Information Clearinghouse. http://digestive.niddk.nih.gov/ddiseases/pubs/livertransplant_ez. Accessed June 10, 2014.
- Golden AK. Decision Support System. Mayo Clinic, Rochester, Minn. April 14, 2014.
- Picco MF (expert opinion). Mayo Clinic, Jacksonville, Fla. June 25, 2014.