What Is Wilson Disease?
Wilson disease is a rare genetic disorder found in children in which large amounts of copper build up in the liver and brain. Wilson's disease causes liver damage, which can be slowly progressive or acute and very severe. It can also cause brain and nervous system damage, which can lead to psychiatric and neuromuscular symptoms. Wilson's disease can be fatal, but is often very responsive to medical treatment, especially if it is diagnosed 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 excess copper because of a defective copper transporting 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
- Red blood cells
- Central nervous system
- Kidneys
- Eyes
Who Is at Risk for Wilson's Disease?
Wilson's disease occurs in one out of every 30,000 people. In most cases, it is inherited. A pediatric patient with Wilson's disease must have 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.
Wilson Disease Symptoms in Children
Wilson's disease symptoms usually start in childhood or adolescence, but have been reported in individuals who were greater than 60 years of age. One characteristic sign of Wilson 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. It is not associated with any visual problems. 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
- Bleeding tendency
- Vomiting blood
- Fatigue
- 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
Wilson Disease Diagnosis
Wilson disease diagnosis can be complicated and should be evaluated by a physician familiar with the various types of testing that can be done and how to interpret the tests. 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.
Your child's doctor will ask about symptoms and medical history, and perform physical and mental exams. Tests may include:
- Blood tests and urine tests – to assess liver function, blood counts and measure levels of ceruloplasmin (a copper-carrying protein that is often low in Wilson Disease)
- Urine tests to look for excess copper that is excreted in urine – if this test is performed it is important to make sure that the collection is complete, i.e. a full 24 hours of urine
- Eye exam (typically by an ophthalmologist) – 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
- Genetic testing – which is very helpful when positive. The testing is often expensive and one should inquire as to insurance coverage before the test is submitted.
These tests can show Wilson's disease before symptoms appear. This is why doctors suggest that all siblings of people with Wilson disease get testedThese tests can show Wilson's disease before symptoms appear. This is why doctors suggest that all siblings of people with Wilson disease get tested.
Typically no single test can either diagnose or exclude Wilson Disease.
Wilson 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 typically include:
- Zinc acetate
- Penicillamine
- Trientine
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. Patients who stop taking this medications can become very ill, sometimes in a rather short period of time.
When Wilson Disease has caused acute liver failure, a liver transplant is often the best option. Similarly if Wilson Disease has caused cirrhosis with poor liver function a liver transplant may be necessary.
Currently, there are no guidelines to prevent Wilson disease, although there are discussions of newborn screening for this disease. However, when identified early, treatment can prevent the development of symptoms.
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