Wilson disease is a genetic disorder that causes excessive amounts of copper to accumulate in the body, affecting the liver and brain. Instead of the body eliminating the excess copper it absorbs from food, for people with Wilson disease, the copper accumulates, causing tissue damage. If left untreated, Wilson’s disease can be fatal, but with early detection and treatment, most patients are able to maintain their lifestyles.
The Wilson Disease Clinic, part of the University of Michigan’s Hepatology Program, is a Wilson Disease Center of Excellence, as designated by Wilson Disease Association. We earned this designation because of our commitment to optimizing care, diagnosing and following up with patients affected by this disease, and communicating advances through a team of specialized Wilson disease providers.
Wilson Disease Symptoms
Some patients have either liver or neurologic involvement only, but many have both.
Liver-Related Symptoms of Wilson Disease:
- Feeling tired
- Jaundice (yellow eyes and skin)
- Ascites (swelling of the abdomen due to accumulation of fluid)
- Mental confusion
- Anemia (especially if present acutely in young patients)
May present as acute liver failure, abnormal liver enzymes, or cirrhosis.
Neurological Symptoms of Wilson Disease:
- Changes in speech
- Abnormal body postures
- Rigidity
- Walking abnormalities
- Tremor
- Facial expression changes
- Drooling
- Weakness
- Difficulties with schoolwork or job performance
- Personality changes
Diagnosing Wilson Disease
Wilson disease is often confused with other liver diseases such as alcoholic liver disease, fatty liver disease due to obesity, or acute liver failure due to hepatitis viruses or drugs/toxins. It can also be confused with other neurological diseases, such as Parkinson’s disease or multiple sclerosis. Our dedicated and experienced doctors use a team approach to comprehensively evaluate each patient to provide an accurate diagnosis.
The diagnosis of Wilson disease begins with performing a comprehensive examination and collecting a thorough history including a family history. A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). A urine test to measure the copper excreted in the urine is typically ordered. And a slit-lamp eye exam may be required to check for Kayser-Fleischer rings, which are brown-colored rings (excess copper) around the irises.
A liver biopsy tests for the amounts of copper in the liver and the degree of liver damage. It is performed by inserting a thin needle through the abdomen into the liver where a small piece of tissue is removed for examination under a microscope. Imaging tests, such as an MRI or a CT scan may be ordered for those with neurologic symptoms.
Wilson Disease Treatment at the University of Michigan
At the University of Michigan, we provide comprehensive, multidisciplinary care for patients with Wilson disease. Our team consists of a liver doctor, neurologist, speech pathologist, liver transplant doctors, dieticians, genetic counselors, psychiatrists, laboratory technicians who are experts in measuring copper, as well as our nurse specialist and patient coordinator, all of whom specialize in the treatment of Wilson’s disease.
The goal of treatment is to first remove the excess copper and then achieve a more typical level of copper in the body long-term. Treatments include:
Medications: Chelating drugs help remove excess copper in the body, sending it out through the urine. Another medication, zinc acetate, helps to maintain a healthy level of copper. Dr. George Brewer, here at the University of Michigan, was instrumental in bringing zinc acetate through FDA approval in work performed in the University of Michigan's clinical research center.
Lifestyle changes: These include dietary changes (eliminating foods with high levels of copper) and drinking-water changes (if you have well water or copper pipes).
Treatment of neurological problems: These may include tremor, speech, swallowing, and/or walking problems that can be addressed with medication, physical therapy, and occupational therapy.
Liver transplantation: Surgically replacing a badly diseased liver with a healthy liver or segment of a healthy liver from a human organ donor.
Clinical trials: Patients at the University of Michigan may take part in a wide range of clinical trials testing new ways of using approved drugs or investigational new drugs. For a list of active clinical trials, visit https://umhealthresearch.org/.
Genetic Counseling for Wilson Disease
Genetic testing is a choice, not a requirement. There are pros and cons to getting tested, and you must weigh that information carefully before making your decision. The genetic counselors of U-M’s Neurogenetic Disorders Program are available to educate you and answer your questions about genetic testing. They will also help you understand your risk of getting a disease related to genetics or of having a child with an inherited disease. For more information on genetic counseling, call 734-936-3087.
Other Information About Digestive and Liver Health
To see related gastroenterological medical services we offer, visit our Digestive and Liver Health overview page.
Make an Appointment
To schedule an appointment to discuss questions or concerns about Wilson disease, call us toll-free at 844-233-0433.