Wilson's Disease

What is Wilson’s Disease?

Wilson’s Disease is an inherited disorder that prevents the body from properly metabolizing copper. It is caused by a mutation in the gene responsible for managing copper in the liver. Copper builds up in the liver, brain, eyes, and other organs, potentially resulting in serious damage to these organs.

Symptoms of Wilson’s Disease

Symptoms of Wilson’s Disease can vary from person to person depending on age and the amount of copper buildup in the body. Common symptoms include:

  • Joint and muscle pain
  • Weakness, fatigue, and loss of appetite
  • Gastrointestinal disturbances
  • Abdominal pain and vomiting
  • Nerve damage, including muscle spasms, tremors, difficulty speaking, and difficulty swallowing
  • Personality changes or psychotic behavior
  • Slurred speech
  • Yellowing of the eyes and skin (jaundice)

Diagnosis of Wilson’s Disease

If your doctor suspects you have Wilson’s Disease, there are several tests they can perform to make an official diagnosis. These tests can include blood tests to look for increased levels of copper, liver function tests, and genetic testing. If the diagnosis is positive, your doctor may order additional tests to look for copper buildup in other organs, such as the brain and kidneys.

Treatment of Wilson’s Disease

Treatment for Wilson’s Disease is aimed at reducing the amount of copper in the body. Most often, this involves taking medications to limit the absorption of copper in the gastrointestinal tract. In addition, certain dietary changes may be recommended, such as avoiding shellfish and organ meats, which are high in copper. In some cases, surgery may be necessary to remove extra copper from the body.

It is important to note that treatment of Wilson’s Disease should be managed by a physician specializing in the disorder, as treatment may need to be adjusted over time to account for changing levels of copper in the body. Regular checkups and lab tests are also important to monitor the progress of the disease.