Wilson's Disease

Diagnosis

Wilson's disease affects approximately 1 in 30,000 people worldwide. Some estimate that at least half of Wilson's disease patients are never diagnosed and die of untreated disease. It is important to diagnose Wilson's disease early, before severe damage occurs.

The liver is usually the first part of the body affected, with initial physical changes only visible through a microscope. These cases occur predominantly in children and may result in hepatitis. More than half of Wilson's disease patients also have neurological symptoms, such as tremors and difficulty walking, talking and swallowing. They may develop mental illness and they may be misdiagnosed as substance abusers. Women may have menstrual irregularities, absent periods, infertility or multiple miscarriages. No matter how the disease begins, it is always fatal if not diagnosed and treated.

There is no single test for diagnosing Wilson's disease. A combination of symptoms and laboratory testing is used to make the diagnosis. Anyone with unexplained elevation of transaminases (an enzyme), chronic active hepatitis, or neuropsychiatric symptoms — or who is found to have Kayser-Fleischer rings (rusty-brown colored ring in cornea) should be evaluated for Wilson's disease.

Symptoms

Symptoms of Wilson's disease can be broken down into the following categories:

Liver: Symptoms ranging from acute hepatitis to liver failure.
Neurological: Movement disorders, drooling, seizures, migraines, insomnia.
Psychiatric: Depression, neuroses, personality changes, psychosis.

Other symptoms may include:

• Kidney problems
• Skeletal problems
• Thyroid problems
• Heart, pancreas or gynecological problems
• Recurrent or unexplained fever
• Jaundice
• Shortness of breath
• Excessive tiredness
• Stiff limbs
• Difficulty swallowing
• Abdominal pain
• Bone pain
• Hemolytic anemia
• Gallstones
• Speech problems
• Abnormal movements
• Deterioration of handwriting

Diagnostic Tests

Testing for Wilson's disease should be performed in individuals with unexplained, abnormal liver tests. The following tests can help diagnose the disease in both symptomatic patients and people who show no signs of the disease.

• Opthamalogic slit lamp examination of Kayser-Fleisher rings (rusty-brown colored ring in cornea) for patients with neurologic manifestations
• Serum ceruloplasmin test
• Serum copper test
• 24 hour urine copper test
• Liver biopsies for histology and histochemistry and copper quantification.
• DNA testing for mutation analysis

Screening

If there is a risk for Wilson's disease, screening should be performed, although screening tests may not definitely diagnose the disease. Clinical findings and biochemical tests are necessary to establish the diagnosis.

Mayo Clinic offers clinical tests for Wilson's disease mutation screen and Wilson's disease known mutation screening. These tests are available through Mayo Medical Laboratories.

It is important to screen all members of a family once a case is diagnosed in the family. Children of a person with Wilson's disease have a 1 in 200 chance of having the disease. Siblings of a person with Wilson's disease have a one in four chance of carrying the same gene pattern.

Many patients may not possess the characteristic signs of the disease and may seek medical attention while their clinical disease is relatively mild. Molecular genetic testing using direct mutation analysis is very effective in identifying the abnormal gene in patients and family members, including those without definitive symptoms.

Researchers at Mayo Clinic Rochester are investigating the effectiveness and feasibility of screening for Wilson's disease in children without any symptoms or history of the disease. Read more under Research.