Wilson's Disease

Overview

Wilson's disease is a genetic disorder in which large amounts of copper build up in the liver and brain. Wilson's disease causes liver damage. It can also cause brain and nervous system damage, which can lead to psychiatric and physical symptoms. Wilson's disease can be fatal, but is often successfully treated if it is caught before serious illness develops.

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 get rid of 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. The liver of a person who has Wilson's disease does not release copper into bile as it should. As a result, copper begins to build up in the liver right after birth and eventually damages this 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.

Wilson's disease occurs in one out of every 30,000 people. In most cases, it is inherited. A person must get two malfunctioning genes – one from each parent – in order to develop the disease. People with only one malfunctioning gene will never have symptoms and do not need treatment. However, they can pass the disease on to their children.

Some cases of Wilson's disease are not inherited. In these cases, the cause of the gene defect is unknown. The only known risk factor for Wilson's disease is a family history of the disease.

Symptoms

Symptoms usually start in childhood or adolescence, but can begin as late as the early or middle adult years. The most characteristic sign of Wilson's disease is the Kayser-Fleischer ring – a rusty brown ring around the cornea of the eye that can be seen only through an eye exam. Other symptoms vary, depending on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. These include:

• Symptoms of excess copper in the liver, such as:
  • Jaundice (yellowing of the skin and eyes)
  • Swelling or pain in the abdomen
  • Nausea
  • Vomiting blood
• Psychiatric symptoms of excess copper in the brain, such as:
  • Depression
  • Anxiety
  • Mood swings
  • Aggressive or other inappropriate behaviors
• Physical symptoms of excess copper in the brain, such as:
  • Difficulty speaking and swallowing
  • Tremors
  • Rigid muscles
  • Problems with balance and walking

Diagnosis

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 at first be attributed to other causes.

Many people with Wilson's appear and feel healthy; severe liver damage can occur before there are symptoms of the disease. Wilson's often does not cause noticeable symptoms until it is serious. That's why it is very important to get diagnosed and treated early to avoid organ damage and early death from copper poisoning.

Your child's doctor will ask about 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 coloring in the cornea (Kayser-Fleischer rings)
• Liver biopsy – a small sample of liver tissue is removed and tested for excess copper

These tests can show Wilson's disease before symptoms appear. This is why doctors suggest that all siblings, aunts, uncles, children, nieces, nephews, and cousins of people with Wilson's disease get tested. Genetic testing is also possible in some cases. The discovery of Kayser-Fleischer rings during an eye exam is usually what confirms Wilson's disease.

Treatment

With proper treatment, Wilson's disease can be stopped from progressing and symptoms can often be improved. The goals of treatment are to remove the excess copper, prevent copper from building up again, and improve symptoms.

Medications are the main treatment for Wilson's disease. These include:

• Zinc acetate
• Penicillamine
• Trientine
• Dimercaprol

These medications prevent copper buildup in the liver, but they cannot cure the underlying problem that causes the buildup. To remain healthy, patients must continue their treatment throughout their lives.

When Wilson's disease has caused severe hepatitis, a liver transplant is often the best option.

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