Wilson’s disease is a rare, inherited, genetic disorder of copper metabolism. It occurs in 1 out of every 30,000 people.

Copper is a trace mineral that our bodies need in small amounts. Most people get a lot more copper from food than they need. However, most people are also able to excrete the excess copper. People with Wilson’s disease cannot excrete the copper they do not need because of a deficiency in ceruloplasmin, a copper carrying protein.

As a result, copper begins to build up in the liver right after birth and eventually damaging the organ. When the liver can no longer hold the excess copper, the mineral goes into the bloodstream. It travels to other organs and may damage the brain, central nervous system, kidneys, and eyes. This disease is fatal unless it is treated before serious illness develops.

Blood Supply and Liver

Blood Supply Liver
© 2009 Nucleus Medical Art, Inc.


In most cases, Wilson’s disease is inherited as an autosomal recessive condition. A person must receive altered genes from both parents to develop the disease. People with only one altered gene will never have symptoms and do not need treatment. However, they can pass the altered gene on to their children. The gene for Wilson's disease is on chromosome 13 and is called ATP7B. Many different mutations in this gene can produce the same condition, all of which are currently termed Wilson’s disease.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. The only known risk factor for Wilson's disease is a family history of the disease. It tends to be most common in eastern Europeans, Sicilians, and southern Italians.


Symptoms most commonly appear in people under 40 years old. In children, the symptoms usually begin to be expressed around four years of age.

  • Symptoms of excess copper in the liver include:
    • Jaundice]]>
    • Swelled abdomen
    • Pain in the abdomen
    • Nausea
    • Vomiting blood
  • Symptoms of excess copper in the brain include:
    • ]]>Depression]]>
    • ]]>Anxiety]]>
    • Mood swings
    • Aggressive or other inappropriate behaviors
    • Difficulty speaking and swallowing
    • Tremors
    • Rigid muscles
    • Problems with balance and walking
  • Symptoms of excess copper in the eyes:
    • Kayser-Fleischer rings (rusty or brown-colored ring around the iris)



Wilson’s disease is easy to diagnose when it is suspected. However, because it is relatively rare, common signs such as psychiatric symptoms or hepatitis]]> may initially be attributed to other causes. You may appear healthy even while your liver is getting damaged. Sometimes the liver symptoms are mistaken for infectious hepatitis or ]]>mononucleosis]]> . Doctors may not recognize psychiatric symptoms caused by Wilson’s disease. However, it is very important to get diagnosed and treated early to avoid organ damage and early death.

Your doctor will ask about your symptoms and medical history, and perform physical and mental exams.

Tests may include:

  • Blood and urine tests—to measure levels of copper and ceruloplasmin (a copper-carrying protein)
  • Eye exam—to look for brown, ring-shaped color in the cornea (Kayser-Fleischer rings)
  • Liver ]]>biopsy]]> —a small sample of liver tissue is removed and tested for excess copper

When there is a known family history of Wilson's disease, early testing may prevent symptoms and organ damage. Genetic testing may be possible if a family member with the diagnosis of Wilson's disease has identifiable changes in the gene. Because there are so many gene mutations that result in Wilson's disease, there is no single, simple test for everyone.

Nonetheless, recent advances in our understanding of the ATP7B gene have increasingly allowed diagnosis to be made by direct genetic analysis. This technique is particularly useful when other tests are negative or equivocal. Experts now think that when a condition known as “fatty liver” occurs in people who do not consume large amounts of alcohol–excessive alcohol intake is the most common cause of fatty liver–specific testing for Wilson’s disease is recommended.

Since diagnosis of this disease can be very difficult, experts have devised a scoring system that combines many of the available tests into a single score that is positive in over 90% of people who truly have the disease and negative in nearly 97% of people whose symptoms are caused by some other condition. Genetic counseling may be helpful to review risks and discuss appropriate testing and management.


The goals of treatment are to remove the excess copper, prevent copper from building up again, and improve all associated symptoms of copper overload. Treatment cannot cure the underlying problem of copper accumulation, therefore, you must continue treatment throughout life.


  • Zinc acetate (blocks the absorption of copper in the intestinal tract)
  • Penicillamine (chelates, or binds, with copper, causing its increased urinary excretion)
  • Tetrathiomolybdolate (may be better than a similar drug called trientine)
  • Dimercaprol

Penicillamine is probably the best-studied treatment and is commonly used, especially in severely symptomatic persons. Zinc has gained increasing importance in recent years because it is often effective in long-term maintenance and has fewer side effects than penicillamine. The role of tetrathiomolybdolate has not yet been clearly established.

Liver Transplant

If you have severe liver damage, you may need a liver transplant. Liver transplantation allows the body to correct its copper metabolism and can at least prevent the disease from worsening. Transplantation also affords an effective treatment for patients who cannot tolerate the sometimes serious side effects of penicillamine.


Currently, there are no guidelines to prevent Wilson's disease. However, when identified early, treatment can prevent the development of symptoms.