How is it Diagnosed?
If you have any of these symptoms or show any of the signs described in the previous section, it's important to see your doctor right away.
Wilson's disease can be fatal if it is not treated. Once the disease is diagnosed and treated, people with well-managed Wilson’s disease can expect a normal lifespan.
Wilson’s disease is ideally diagnosed before any signs or symptoms appear.6
Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose Wilson’s disease.
Some signs and symptoms, such as Kayser-Fleischer rings, when they occur with liver and neurological disease, are enough to make the diagnosis in advanced cases, but healthcare professionals will usually need blood tests and a liver biopsy to confirm Wilson’s disease.4
Genetic testing for ATP7B mutations can also be helpful to diagnose Wilson’s disease, but this test is more expensive and sometimes inconclusive, so it's usually reserved to identify family members who might also have Wilson’s disease or be Wilson’s disease carriers (meaning they have a Wilson’s disease mutation on 1 but not both copies of chromosome 13).4