Symptoms of the disease


Wilson’s disease is a rare disease characterized by excessive accumulation of copper in the body, especially in the liver and brain. Exceptionally for a genetic disease, effective medical treatment is available if it is is instituted early and continued throughout life.


In all people with Wilson’s disease, copper buildup begins in the liver.

Liver symptoms can be of very variable severity ; it can remain silent for a long time, manifest itself gradually or brutally.

Liver involvement may be similar to viral hepatitis: severe fatigue, loss of appetite, elevated liver enzymes called transaminases (ASAT and ALAT). Sometimes this is manifested by jaundice (jaundice with a yellow color of the skin, white eyes) associated with swelling of the belly due to fluid accumulation (ascites), and/or swelling of the ankles (edema lower limbs).

When the liver is severely damaged and its functioning highly impaired, it is called liver failure, which can be dangerous for the life of the patient.

Finally, liver damage can progress to severe chronic liver disease. This corresponds to the progressive transformation of the liver into a « hard » organ composed of fibrous « scar » tissue. This liver disease is sometimes accompanied by an increase in spleen volume and dilation of the esophageal veins (oesophageal varices).

Examinations that diagnose liver damage are:

  • 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 may be normal. In case of hepatic insufficiency, the prothrombin (TP) and albumin levels are lowered. In case of jaundice, the bilirubin level is high, in cases of severe chronic liver disease the platelet count may be low. Finally, the increase of « toxic » copper in the blood can be accompanied by anemia by abnormal destruction of red blood cells.
  • Hepatic ultrasound performed with a probe placed on the belly allows to better appreciate liver damage, to seek an increase in the volume of the spleen. This painless examination may in some cases be supplemented with liver MRI.
  • Fibroscan allowes to measure the elasticity or the hardness of the liver; it is linked to liver damage. This examination is painless and is performed with a probe placed on the abdomen.
  • Liver biopsy is performed in cases of difficult diagnoses. It allows to measure the level of copper in the liver and to analyze finely the lesions. It is done under local or general anesthesia.


Neurological symptoms vary according to the damaged areas of the brain. It is in order of frequency of:

  • trembling arms, legs, head
  • difficulty in articulating (dysarthria)
  • abnormal contractions of muscles that cause twisting of hands, feet, face (dystonia)
  • slow execution of movements
  • difficulty writing
  • difficulty swallowing (swallowing disorders)
  • behavioral changes with disinhibition, addiction, mood changes, irritability, impulsivity, depression …
  • neuropsychological disorders associating difficulties of concentration, attention, resulting in a weakening of the academic results or professional difficulties

It is important to know that patients with neurological symptoms always have liver damage.

Neurological symptoms worsen in the absence of treatment.

Under treatment, the improvement is slow, appearing only after several months. In addition, when initiating treatment, a worsening of symptoms can be observed but that is most often reversible.

Neurological scales can accurately monitor evolution, for example the Unified Wilson Disease Rating Scale (UWDRS).

The evaluation of tremor or distal stiffness can be performed by writing tests such as the DPRE (Flow Rate Precision Rhythmicity Analog Visual Scale ; T. Peron-Magnan). This test is used to measure the feeling of the patient when writing. Write as quickly as possible for a minute the sentence « je respire le doux parfum des fleurs », draw the inside of spirals and finally slalom between points under the same conditions:

test dpre

In addition to the neurologist’s examination, the reference examination is brain MRI, which can be used to visualize the brain lesions testifying to the cerebral accumulation of copper; this is most often abnormal in patients with neurological signs.

irm cerebrale


Examination of the eye is particularly important in Wilson’s disease. Indeed, at diagnosis 40% of patients and almost all those who have neurological symptoms have a pericorneal ring, greenish brown, golden, characteristic, the Kayser-Fleischer ring. This ring, exceptionally visible to the naked eye, must be sought in ophthalmology, by a specific examination completely painless, with the slit lamp. This ring does not affect visual acuity.

atteinte oculaire

The Kayser-Fleischer ring disappears under treatment, first on the sides, then down, and finally up. It can take several years.

atteinte oculaire


In women, the periods can be irregular. This may be the first symptom. Prior to diagnosis, miscarriages are also common.

Some patients may have kidney malfunctions. Urinary or biliary calculi (lithiases) are common.

Patients with severe form of Wilson’s disease that have led to prolonged bed rest can develop bone disorders.