Wilson’s Disease

Wilson's disease is a genetic disorder in which the body does not excrete copper, so copper builds up in the body's tissues. Left untreated, it can cause liver disease and neurological symptoms.

Symptoms of Wilson’s disease

Although the disease is present at birth, most people do not experience symptoms until years later.

The defining characteristic of Wilson’s disease is a brown ring around the cornea of the eye called the Kayser-Fleischer ring. This rusty brown circle can be detected on an eye exam.

Other symptoms may include:

  • Jaundice
  • Nausea, loss of appetite
  • Vomiting blood
  • Difficulty speaking, swallowing, walking
  • Tremors in hands and arms
  • Muscle rigidity
  • Skin rash
  • Enlarged liver and spleen
  • Buildup of abdominal fluid
  • Anemia
  • Low platelet and white blood count
  • Abnormal urine tests
  • Soft bones

Serious complications of Wilson’s disease include cirrhosis of the liver, liver failure, liver cancer, kidney disease, and neurological problems.

Causes of Wilson’s disease

Wilson’s disease is caused by a genetic mutation that must be inherited from both parents (called autosomal recessive). People who received the genetic mutation from one parent do not get the disease, but can pass it on to their children.

Diagnosis of Wilson’s disease

Because many of the signs and symptoms of Wilson’s disease overlap with other liver diseases, it can be difficult to distinguish it from other causes.

Testing to diagnose Wilson’s disease may include:

  • Blood tests
  • Brain scan
  • Urine tests
  • Eye exam
  • Liver biopsy
  • Genetic testing

Treatments for Wilson’s disease

Treatments consist of medical therapy and liver transplantation.

Medical therapy is given to remove excess copper from the body and to prevent absorption of copper from dietary sources.

If a person has already sustained severe liver damage, a liver transplant may be necessary.