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 usually accumulates in the liver first, then in the central nervous system. The excess copper damages the liver, nervous system, eyes and other organs.

Causes

Wilson's disease is caused by a defective gene. When a person is a carrier of the gene, he or she does not have symptoms. When two parents are carriers of the gene, there is a one in four chance of their child having the disease.

Symptoms

Older children and teenagers may be diagnosed with the disease or the disease may not become apparent until much later in life.

The liver is usually the first organ to be affected when there is an accumulation of copper. Liver related symptoms include:

• Enlargement of the abdomen (swollen belly)
• Enlarged liver or spleen
• Vomiting blood
• Weakness or fatigue
• Jaundice (yellowing of the skin and eyes)
• A tendency to bruise easily

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
• Loss of IQ points (occasionally)
• Personality changes
• Phobias, distress (neuroses)
• Slow movements
• Slow or decreased movement and expressions of the face
• Speech impairment
• Tremors of the arms or hands
• Uncontrollable movement
• Unpredictable and jerky movement

Exams and Tests

A pediatric GI specialist may conduct several types of tests to diagnose Wilson's Disease.

A special eye examination may show:

• Limited eye movement
• Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)

A physical examination may show signs of:

• Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and intellectual functions, loss of memory, and confusion (delirium or dementia).
• Liver or spleen enlargement

Lab tests may include:

• Complete blood count (CBC) & chemistry profile
• Serum ceruloplasmin
• Serum copper

If there are liver problems, lab tests may find:

• High AST and ALT enzymes
• High bilirubin
• High PT and PTT (abnormal blood clotting)
• Low albumin

Other tests may include:

• 24-hour urine copper test
• Liver biopsy [link to LB exam page]

Treatment

The goal of treatment is to reduce the amount of copper in the body. Your child's pediatric gastroenterologist will prescribe medication and dietary changes that reduce copper intake. Treatment must be lifelong.

The following medications may be used:

• Penicillamine (Cuprimine, Depen)
• Trientine (Syprine)

Both drugs 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 (Galzin) – blocks copper from being absorbed in the intestinal tract; zinc works too slowly for severe disease; it can be used in combination with penicillamine or trientine but must be taken separately.
• Vitamin E supplements may also be used.

A low-copper diet may also be recommended. Foods to avoid include:

• Chocolate
• Dried fruit
• Liver
• Mushrooms
• Nuts
• Shellfish

A liver transplant may be considered in cases where the liver is severely damaged by the disease.

Points to Remember

• Wilson's disease is an inherited disease 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.
• Teenagers may be diagnosed with the disease; for others, symptoms may not occur until much later in life.
• People with Wilson's disease can enjoy good health if the disease is detected early and treated.
• It is very important for patients with Wilson's disease to continue taking their medications steadily.

For More Information

American Liver Foundation - liverfoundation.org

National Institute for Diabetes and Digestive and Kidney Diseases, National Institutes of Health - digestive.niddk.nih.gov/ddiseases/pubs/primarysclerosingcholangitis/

Wilson's disease Association International - wilsonsdisease.org