Wilson's disease is an inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Another term for Wilson's disease is hepatolenticular degeneration.
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. Left untreated, Wilson's disease is fatal. 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.
Signs and symptoms of Wilson's disease include:
When to see a doctor
If a family member has been diagnosed with Wilson's disease, tell your doctor at your next appointment. Your doctor may recommend tests to determine whether you may have Wilson's disease.
Wilson's disease occurs when a genetic mutation leads to an accumulation of copper in your body.
How the genetic mutation occurs
How the genetic mutation causes Wilson's disease
Your body collects copper from the food you eat during the digestive process. The copper is transported to your liver where liver cells use it for everyday tasks. Most people eat more copper than they need. In these cases, the liver takes what it needs and excretes the rest in bile, a digestive juice made by the liver.
But in people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
The liver is your largest internal organ. About the size of a football, it's located mainly in the upper right portion of your abdomen, beneath the diaphragm and above your stomach, but a small ...
Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one ...
You may be at increased risk of Wilson's disease if one or more of your first-degree relatives 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:
A normal liver (left) shows no signs of scarring. In cirrhosis (right), scar tissue replaces normal liver tissue. ...
Liver cancer begins in the cells of the liver. The most common form of liver cancer begins in cells called hepatocytes and is called hepatocellular carcinoma. ...
Preparing for your appointment
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
Questions to ask
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.
Tests and diagnosis
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:
A liver biopsy is a procedure to remove a small sample of liver tissue for laboratory testing. Liver biopsy is commonly performed by inserting a thin needle through your skin and into your liver. ...
Treatments and drugs
If you've been diagnosed with Wilson's disease, your doctor may recommend medications to reduce the amount of copper in your body. Once that is achieved, treatment focuses on preventing copper from building up again. When liver damage is severe, a liver transplant may be necessary.
Medications that remove excess copper from your body
Treatment for people with signs and symptoms of Wilson's disease usually begins with a chelating agent. Once your signs and symptoms are under control, your doctor may recommend a lower dose of medication to maintain a safe level of copper in your body.
Doctors sometimes also recommend chelating agents to people who've been diagnosed with Wilson's disease but don't have signs and symptoms. For these people, a chelating agent can reduce the risk of liver damage.
Side effects of chelating agents depend on the specific medication:
Medication to maintain healthy copper levels
Zinc acetate causes few side effects but can cause upset stomach.
Living liver transplant
A small percentage of liver donations come from a living donor, such as a friend or family member. During a living-donor liver transplant, one portion of the donor's liver is removed and transplanted ...
Lifestyle and home remedies
Doctors sometimes recommend limiting the amount of copper you consume in your diet during the first year of your treatment for Wilson's disease. As your signs and symptoms recede and the copper levels in your body drop, you may be able to include copper-containing foods in your diet.
Copper in tap water
If you have copper pipes, run the tap for several seconds before collecting water for drinking or cooking. Water that sits in the copper pipes can pick up copper particles. Running the water flushes that contaminated water out of the pipes.
Last Updated: 2011-09-23
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