The diagnosis of Wilson’s Disease is based on a combination of clinical, biological and radiological evidences.
In some patients, liver damage is associated with brain damage.
Examination of the eye is particularly important in Wilson’s disease. Indeed, almost 40% of patients and almost all those with neurological symptoms have a Kayser-Fleischer ring.
Blood tests can confirm liver involvement by revealing a high level of liver transaminases ; but it must be known that this blood test of the function of the liver can be normal.
The copper balance combines:
- The determination of ceruloplasmin: the concentration of ceruloplasmin is lowered in the blood
- The determination of total copper in the blood or cupremia: total copper includes ceruloplasmin-bound copper and free copper. He is lowered.
Wilson’s disease is a copper overload disease localized in certain organs including the liver, but the total copper level in the blood is low!
- Following the publications of the team at the coordinator-site of the Lariboisière Hospital, the REC or Relative Relative Copper must be added to the cupric balance. This is the ratio of free or exchangeable copper (which is toxic copper) to total copper in the blood. It is higher than 18.5% in patients with Wilson’s disease.
- The determination of copper in the urine collected over a 24-hour period is an important part of the diagnosis. An increase in the urinary copper level is found.
The search for genetic mutations confirms the diagnosis. More than 600 different mutations have been described in Wilson’s disease and others are not know yet.
- Hepatic ultrasound allows a better assessment of liver damage seeking an increase in the volume of the spleen. In some cases, it may be supplemented by liver MRI.
- Cerebral MRI can be used to look for brain lesions indicative of cerebral copper accumulation; this one is abnormal in forms with neurological signs.