Diagnosis

Symptoms of a liver disorder or neurological disturbances in a younger person indicate that it might be Wilson’s disease. First is checked whether the above-mentioned Kayser-Fleicher ring is to be found in the cornea of the eye. An eye specialist using an ophthalmoscopic microscope best performs the examination. Secondly, in the blood the content of copper and a copper-carrying protein (coeruloplasmin) is measured. The content of both will be reduced. The reduced content in the blood is caused by the fast deposition of the copper different places in the body. In addition the secretion of copper in the urine can be measured, - it will be severely increased. Finally, the diagnose can be obtained by performing a biopsy of the liver. It is a needle-examination taking out a tiny sample of the liver to check in the microscope and to check for content of copper (the copper content will be severely increased).

Today an effective treatment of the disease exists. It is important that the diagnose is obtained as soon as possible so the patients can get better as quickly as possible. Without treatment the disease is always fatal.