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What is Wilson’s Disease?

Wilson’s disease is a rare, genetic disorder in which the body doesn’t eliminate copper efficiently, causing too much copper to build up in the liver, brain and other vital organs. Untreated, it can be life-threatening.

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To schedule an in-person or virtual consultation with a UH liver specialist, call 216-844-8500, Option #1 or schedule online.

Copper is an essential element in the body that is necessary for the development of healthy nerves, bones and collagen. Normally, copper is absorbed from the food we eat and any excess is excreted through the bile produced in the liver. In people with Wilson’s disease, this process doesn't work well and leads to copper accumulation and organ damage.

Although Wilson’s disease is present at birth, symptoms may only appear during adulthood. Symptoms will vary depending on which organ system has been damaged and may include:

  • Fatigue
  • Loss of appetite
  • Abdominal pain
  • Behavioral changes
  • Uncontrolled or poorly coordinated movements
  • Muscle stiffness
  • Problems with speech and swallowing
  • Eye discoloration (ie: Kayser-Fleischer rings, jaundice)
  • Signs and symptoms of liver failure

Advanced Diagnosis and Treatment for Wilson’s Disease

The signs and symptoms of Wilson’s disease can be similar to those of other liver diseases so it can be a challenge to diagnose. If Wilson’s disease is suspected, our team of liver specialists will use a variety of tests to confirm the diagnosis so effective treatment can begin. Diagnostic procedures may include:

  • Blood tests to monitor your liver function and measure the level of copper in your blood
  • Urine tests to measure the amount of copper excreted in your urine over 24 hours
  • Eye exam with an ophthalmologist to check for Kayser-Fleischer rings (caused by excess copper in the eyes)
  • Liver biopsy to test for excess copper in the liver tissue
  • Genetic testing to check for the gene mutation that causes Wilson’s disease

When diagnosed early, Wilson’s disease is treatable, and many people with the disorder live normal lives. The primary treatments are medications that help the organs to release copper into the blood stream so it can be processed in the kidneys and eliminated in the urine.

If the disease has progressed and the patient has liver damage and complications of liver failure as a result, liver transplantation may need to be considered.

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