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Wilson's Disease

Wilson's disease, an inherited condition, is characterized by an excessive amount of copper that has accumulated in the body. Symptoms of this disease include jaundice, tremors, and difficulty with speech. If the condition is detected early and treated correctly, a person can enjoy completely normal health. Without proper treatment, the disease is generally fatal.

  

What Is Wilson's Disease?

Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. Although the accumulation of copper begins at birth, symptoms of Wilson's disease don't usually appear until later in life, often between the ages of 6 and 40.
 
The liver of a person who has Wilson's disease does not release copper into the bile as it should. Bile, a liquid produced by the liver, helps with digestion. As the intestines absorb copper from food, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup in Wilson's disease leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.
 

What Causes It?

Wilson's disease is hereditary, which means it can be passed from one family member to another.
 

Symptoms of Wilson's Disease

Symptoms of Wilson's disease usually appear between the ages of 6 and 20 years, but can begin as late as age 40.
 
The primary consequence for approximately 40 percent of patients with Wilson's disease is liver disease. In other patients with Wilson's disease, the first symptoms are psychiatric, neurological in origin, or both.
 
Possible symptoms of Wilson's disease include:
 
  • Jaundice, which appears as yellowing of the eyes and skin
  • Vomiting blood
  • Speech and language problems
  • Tremors in the arms and hands
  • Rigid muscles
  • Drooling
  • Difficulty with speech
  • Abrupt personality change
  • Grossly inappropriate behavior and inexplicable deterioration of school work
  • Neurosis
  • Psychosis.
     
The most characteristic sign of Wilson's disease is the Kayser-Fleischer ring -- a brown ring around the cornea of the eye that can be seen only through an eye exam. Other signs of Wilson's disease depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system.
 
Many signs of Wilson's disease can be detected only by a doctor. These include:
 
  • Swelling of the liver and spleen
  • Fluid buildup in the lining of the abdomen (called ascites)
  • Anemia
  • Low platelet and white blood cell count
  • High levels of amino acids
  • Protein
  • Uric acid and carbohydrates in urine
  • Softening of the bones.
     
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