Definition

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.

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.

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Causes

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 may never have symptoms and may 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

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)

Diagnosis

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 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), as well as to evaluate liver function
• 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
• MRI of the brain—tests that provide detailed images of the brain

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.

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.

Genetic counseling may be helpful to review risks and discuss appropriate testing and management.

Treatment

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.

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.

Prevention

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