Wilson's disease is a genetic disorder in which the body is unable to rid itself of excess copper. Copper is found in many foods and is an important nutrient for the body. Typically the liver filters out copper and releases it into bile where it leaves the body through the gastrointestinal tract. When the body is unable to do this, copper accumulates in the liver and then in the central nervous system. This excess copper can damage the liver, nervous system, eyes and other organs.
Wilson's disease is caused by a defective gene. When a person is a carrier of the gene (has one copy of the defective gene), he or she does not have symptoms. To have the condition, you need two copies of the defective gene. When both parents are carriers of the gene, there is a 1-4 chance that their child will have Wilson's disease.
Wilson’s disease usually affects older children, teenagers and adults. Many patients have no symptoms of the condition until later in life.
The liver is usually the first organ to be affected when there is an accumulation of copper. Liver-related symptoms include:
- Abnormal blood tests
- Enlarged liver or spleen
- Jaundice (yellowing of the skin and whites of the eyes)
- Tendency to bruise easily
- Weakness or fatigue
Once the central nervous system is affected, symptoms may include:
- Confusion or delirium
- Difficulty walking (ataxia) or other problems with physical coordination
- Emotional or behavioral changes
- Slow or uncontrolled movements
- Speech impairment
- Tremors of the arms or hands
Diagnosis of Wilson's Disease
If your child experiences symptoms of Wilson's disease, a pediatric gastroenterologist can perform the following exams and tests to help make a diagnosis:
- Physical exam. A physical examination may show signs of damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors or loss of memory or confusion. There also may be signs of damage to the liver when a large liver or spleen is felt during an abdominal exam.
- Blood tests.Types of blood tests used to diagnose Wilson's disease include complete blood count (CBC) and chemistry panel (CMP). Abnormalities that may be seen on these tests include:
- High AST and ALT (indicating inflammation in the liver)
- High bilirubin
- High PT and INR (indicating impaired liver function)
- Low albumin levels (a component of blood plasma) which can be a sign of impaired liver function or poor absorption
- Low ceruloplasmin levels which mean the body is deficient in the copper-carrying protein
- Urine test. A 24-hour urine copper test will measure the amount of copper in your child’s urine. In Wilson’s disease the urine copper level is high.
- Liver biopsy. This is the definitive test for Wilson's disease and can measure copper levels in the liver tissue as well as assessing for inflammation and scarring in the liver.
- Eye exam. In children with Wilson's disease, an eye examination may show:
- Limited eye movement
- Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)
The goal of treatment for Wilson's disease is to reduce the amount of copper in the body. Treatment must be lifelong, and it is important for patients to regularly take their medicines. Children with Wilson's disease can enjoy good health if the disease is detected and treated early. Types of treatments include:
- Medicines. Different types of medicines may be used. Penicillamine and trientine hydrochloride are two medicines that bind to copper in the liver and release it into the bloodstream. The copper is then filtered by the kidneys and released from the body through the urine. Zinc acetate is a third medicine that blocks copper from being absorbed in the intestinal tract. Zinc acetate works too slowly for severe Wilson's disease. It can be used in combination with penicillamine or trientine hydrochloride but must be taken separately.
- Low-copper diet. A diet low in copper may also be recommended. Foods to avoid include:
- Dried fruit
- Liver transplant. A liver transplant may be considered in cases where the liver is severely damaged by the condition.
Key Points to Remember
Key Points to Remember
- Wilson's disease is an inherited condition in which the body is unable to get rid of extra copper.
- The liver is often the first organ to experience symptoms, but the central nervous system can also be severely affected.
- Older children and teenagers may be diagnosed with the condition. For some, symptoms may not occur until adulthood.
- Children with Wilson's disease can enjoy good health if the disease is detected and treated early.
- It is very important for patients with Wilson's disease to continue taking their medicines regularly.
Support Services & Resources
Support Services & Resources
Visit the websites below to find support groups and services and learn more about Wilson's disease.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The Riley at IU Health Liver Support Group meets one or two times a year for a family-oriented education program and socializing. Topics include testing for liver disease, complications of liver disease, impact of chronic disease on the family, liver transplant, nutrition for liver disease and medicine for liver disease. Please call 317.944.3774 for meeting dates and times.
The American Liver Foundation provides in-depth information about Wilson's disease on its website.
This site from the National Institutes of Health provides information about treatments and clinical trials for Wilson's disease.
The Wilson Disease Association website contains information for patients and families living with Wilson's disease, including support contacts and current clinical trials.
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
Riley Pediatric Gastroenterology, Hepatology & Nutrition
575 Riley Hospital Dr
Indianapolis, IN 46202