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Some patients have either liver or neurologic involvement only, but many have both. Some of the liver-related symptoms include:

• 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)

It may also present as acute liver failure, abnormal liver enzymes, or cirrhosis.

Some of the neurological symptoms include:

• Changes in speech
• Abnormal body postures
• Rigidity
• Walking abnormalities
• Tremor
• Facial expression changes
• Drooling
• Weakness
• Difficulties with schoolwork or job performance
• Personality changes

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.

Diagnosis begins with a comprehensive exam and collecting a thorough history. A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). A urine test will measure the copper excreted in the urine. 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.

At U-M Health, we provide comprehensive 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.

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 U-M Health, was instrumental in bringing zinc acetate through FDA approval in work performed in the 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 may take part in a wide range of clinical trials testing new ways of using approved drugs or investigational new drugs.