Danger Level: Medium 

What is it?

Wilson disease is a genetic disorder that causes copper to accumulate in the liver.

Who gets it?

One person out of 40,00 will have the disease. Since it’s a genetic disorder, the disease runs in families. The chances of someone inheriting Wilson’s from their parents is about 1 in 200 (or 0.5%).

What causes it?

Usually copper is excreted from our body. It does so through a special molecule called ATP7B that transports it out. In Wilson disease, this molecule is defective, which causes copper to accumulate inside the liver instead of going out of the body.

Copper. Imagine that accumulating inside your body. Photo by knitsteel. Some rights reserved. 

With time, copper starts to build up in other parts of the body, such as the brain.

How does it feel?

Wilson can manifest itself mainly in 3 areas:

1. Liver: The accumulation of copper in the liver can cause hepatitis (an inflammation of the liver) or cirrhosis (destruction of the liver by its replacement with fibrous scars and nodules). The damage will start to show in late-teenage years or later (after the copper has accumulated enough to cause damage).

2. Brain: This happens in the early twenties, but also can happen later. People start having movement problems, problems with their coordination and tremor. In some people it will look like Parkinson’s disease. You can see an example of a woman showing these symptoms in this movie:

People can also have memory loss, headaches and seizures.

3. Psychiatric: People with the disease tend to have behavioral problems: Problems with controlling their temper, depression, hyperactivity and others.

How is it discovered?

There are a few ways to diagnose Wilson’s:

1. Blood test: The blood is checked for a molecule called ceruloplasmin, which is low in the disease, since the copper destroys it.

2. Kayser-Fleischer rings: Those are rings seen around the iris in the eye. It usually means that the brain is affected.

Fred, H.; van Dijk, H. Images of Memorable Cases: Case 9, Connexions Web site. http://cnx.org/content/m15007/1.2/, Oct 13, 2007.

3. Urine test: To see if the urine is rich in copper. Urine is collected for 24 hours to check for copper level.

4. Liver biopsy: This is the definitive test – a piece of the liver is taken out to check how much copper there is in it.

How is it treated?

By drugs that bind the copper and release it out of the body, in the urine. One such drug is called penicillamine. Another drug used is zinc, which prevents copper from being absorbed in the gut, and therefore causing it to be released from the body.

What happens after treatment?

People with the disease have to keep taking the medication their whole lives. With treatment, their livers usually get better in a year. The neurologic and psychiatric symptoms usually improve after 6-24 months.

Wilson disease is a genetic disease. Therefore, there is really not much you can do to avoid it. The best thing is going to see a doctor if you suspect having the disease based on the symptoms written above.

What next?

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