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Wilson’s Disease Wilson’s Disease
Wilson's disease is an inherited disorder that causes copper to accumulate in our tissues. It is an autosomal recessive genetic disorder, which means... Wilson’s Disease

by Kimberly Allen R.N.

Wilson’s disease is an inherited disorder that causes copper to accumulate in our tissues.  It is an autosomal recessive genetic disorder, which means you have to inherit one abnormal gene from each parent giving you a pair. If you receive only one mutated gene then you will not have the disease but you will be a carrier.  Wilson’s disease develops in approximately 4 out of every 100,000 people, however it is estimated that at least 1 out of every 100 people are carriers.  Current estimates are that at least 40,000 people will be diagnosed with Wilson’s disease every year.  It affects both men and women of all ethnic backgrounds.

Wilson's Disease causes copper to accumulate in the liver, eventually spreading to the eyes, brain and other organs.

In Wilson’s disease the gene that is responsible for moving the extra copper out of the liver is malfunctioning.  Our body requires copper for the development of bones, nerves, collagen, and melanin.  Normally we get all the copper we need in the food we eat and the liver filters out what is needed for various functions and then the rest the liver excretes as bile.  In Wilson’s disease the protein that converts the rest of the copper to bile is not functioning so instead of being excreted it accumulates.  The extra copper accumulates first in your liver and then gradually spreads to other areas like the brain, eyes, and kidneys causing serious, even fatal complications.
Wilson’s disease is considered to be very rare, however if unrecognized and diagnosed it is frequently fatal.  Wilson’s disease occurs in four stages;
Stage I Is the early period when copper begins to accumulate within the liver.
Stage II  Starts as the liver is overloaded with copper and it is now being released into circulation.
Stage III The accumulation of copper has become chronic in the brain and other areas outside the liver, the disease is progressive and fatal at this point.
Stage IV This is when the balance of copper has been restored with use of long-term chelation therapy.
Though the copper starts to build up immediately after birth symptoms usually become noticeable between 6 and 30 years of age.  However they have been known to develop as early as 2 years and as late as 40 years of age.  One of the first symptoms that you may notice is a characteristic rusty brown ring around your cornea.  Other common symptoms you may notice are chronic fatigue, clumsiness, and difficulty walking as well as difficulty speaking and swallowing.  Some people experience involuntary shaking, joint pain and bruising easily.  as the liver becomes damaged you’ll see more jaundice as well as more swelling in your arms and legs.
Diagnosing Wilson’s disease is difficult because the symptoms are so similar to those of numerous other diseases affecting the liver, like hepatitis.  Also, frequently the symptoms develop slowly over time not all at once making it more difficult to distinguish between Wilson’s and other diseases.  If you have a family history of Wilson’s disease it’s important to inform your Dr so he/she can then consider your symptoms in context.  The first thing your Dr will do is get blood work to assess your liver function and copper levels, occasionally the Dr will also have genetic testing done.  If your symptoms have progressed and you have symptoms of brain involvement the Dr may also order a brain scan to determine the extent of the damage.
The most common treatment for Wilson’s disease is the use of medications known as chelating agents.  These medications tell your organs to release the extra copper into your bloodstream which is then filtered by your kidneys and excreted in your urine.  Early in your treatment your Dr may also recommend that you limit the amount of foods that a known to contain copper in your diet.like shell fish, chocolate, nuts, and mushrooms as well as dried fruits and certain dried vegetables like peas, beans, and lentils.  There are also certain vitamin and mineral supplements that contain copper.  If the disease has prgressed and you have severe liver damage you may require a liver transplant.
When living with any chronic illness it’s important to eat healthy and exercise regularly to give you and your body the best chance of successfully managing your disease.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at mussatti3@gmail.com.

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