Wilson's Disease

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)