What is Wilson’s Disease?
Wilson’s disease is a rare genetic disorder that causes copper to build up in the liver, brain and other organs. Copper is important in the development of healthy nerves, bones, collagen and the skin pigment called melanin. Copper is normally absorbed from your food and any excess is excreted through bile produced in your liver. In people with Wilson’s disease, copper is not properly eliminated and instead accumulates, sometimes to life-threatening levels. However, when this condition is diagnosed early on, it is treatable.
This disease is present at birth, but symptoms may not appear until copper builds up in the liver, brain or other organs. Symptoms may include:
- A yellowing of the skin and eyes (jaundice).
- Lack of appetite.
- Abdominal pain.
- Fluid buildup in the abdomen or legs.
- Problems with swallowing, physical coordination or speech.
- Uncontrolled movements or stiff muscles.
How is Wilson’s Disease Diagnosed?
Wilson’s disease is inherited as an autosomal recessive trait, meaning that in order to develop this condition, you must inherit one copy of the defective gene from each of your parents. Individuals may be at an increased risk of Wilson’s disease if their parents or siblings have this condition. Genetic testing is available if you wish to find out if you have this condition.
Overall, providers rely on a combination of symptoms and testing to diagnose this condition. Diagnostic tests and procedures may include blood and urine tests, an eye exam, liver biopsy and genetic testing.
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Wilson’s Disease Treatment Options
There are a number of different treatment options for Wilson’s disease, which focus on preventing copper buildup in the body. Treatment for this condition is lifelong.
Your provider will recommend that you limit the amount of copper in your diet. You should also avoid taking multivitamins that contain copper.
There is a selection of medications that may be prescribed to remove extra copper from the organs including penicillamine, trientine or zinc acetate.
In cases where liver damage is severe, a liver transplant may be necessary.
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At South Denver GI, our team of physicians and advanced practice providers have the expertise to provide you with outstanding care. If you would like to learn more about Wilson’s Disease or need to schedule an appointment at our office, contact us today!
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