Wilson's Disease

What Is Wilson's Disease?

Wilson's disease isa condition that many people have never even heard of. In addition, they're unaware that Wilson's disease can be as dangerous as other conditions related to liver health, like cirrhosis and hepatitis. While many people with Wilson's disease lead normal lives, it should be noted that this condition, left untreated, can cause irreversible liver damage and even be life-threatening.

Wilson's disease causes too much copper to build up in the liver, brain, and other organs. The human body needs a certain amount of copper to promote healthy nerves, bones, collagen and the skin pigment known as melanin. But too much can be harmful.

We get copper from the food we eat. Typically, it eventually ends up in the liver, where it is used by liver cells for to perform a variety of metabolic tasks in the body. There's usually some left over though, and the remainder is excreted in bile.

Someone who has Wilson's disease experiences a breakdown in this process. Copper builds up to a point where overall health is threatened, and death is a possibility. Some people with Wilson's disease need a liver transplant to survive. Besides the liver, Wilson's disease is also harmful to your kidneys, eyes and brain.

Wilson's disease was first described in 1912 by Dr. Samuel Alexander Kinnier Wilson (1878-1937), a British neurologist.

Another term for Wilson's disease is hepatolenticular degeneration.

Who's at risk for Wilson's disease? There is a strong genetic component to Wilson's disease that involves a genetic mutation. People who get the disease have inherited an autosomal recessive trait from both parents. An autosomal recessive trait means you have to inherit a recessive gene from both parents to get the disease. If you inherit only one gene, you won't get Wilson's disease yourself. But you could pass it on to your children if the other parent also carries the same gene.

Symptoms As with many diseases related to the liver, Wilson's disease triggers symptoms that can be caused by a number of other conditions. Diagnosis is further complicated by the fact that symptom appear in the part of the body that is most affected by the copper accumulation.

Generally speaking, any of the following symptoms may appear in someone who has Wilson's disease.

• Difficulty walking, clumsiness, and involuntary shaking.
• Problems with speaking and swallowing. Drooling sometimes occurs.
• Depression, loss of appetite and fatigue are typical.
• Swollen arms and legs, bruising and joint pain.
• Nausea.
• A skin rash could appear
• Jaundice (yellowing of the skin and eyes).

Treatment There are certain medications called chelating agents that can help bring down the level of copper. This reduces the risk of liver damage, but there may be some side effects that include skin problems, bone marrow suppression, worsening of neurological symptoms and birth defects. These are likely to occur in someone taking penicillamine (also known as Cuprimine or, Depen).

Another medication is trientine or Syprine. It causes fewer symptoms than penicillamine.

Then there's zinc acetate, which limits the amount of copper you get from food you eat. Zinc may also be useful for anyone who has been diagnosed with Wilson's disease, but is not experiencing symptoms. One of the benefits of zinc acetate is that it causes few side effects, although upset stomach is a possibility.

For those in the advanced stages of Wilson's disease, a liver transplant may be necessary.

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