What are the signs and symptoms of Wilson's disease?

In some cases these can be very mild, everyday symptoms such as tiredness, loss of appetite, abdominal pain, vomiting, weight loss, nose bleeds and anaemia. These symptoms may come and go over a period of months or even years, or they may be more persistent. Some patients also experience kidney problems, i.e. tubular dysfunction, which generally causes no symptoms, and joint problems, which are very rare. In other cases the symptoms may be more acute, especially when the liver is involved.
Liver disease can be broadly subdivided into:

  • acute liver disease due to copper overload. In this case the patient is likely to be severely ill and yellow. A liver transplantation may be necessary if treatment does not quickly result in improvement
  • acute hepatitis: this is more or less the same as acute liver disease
  • chronic liver disease: slow scarring of the liver due to copper overload, which will ultimately also result in severe damage to the liver.

Some of the kinds of neurological problems can include:

  • deterioration in school performance or handwriting
  • mild tremors
  • dystonia: this is a type of cramping or stiffening of the muscles. Often this begins with muscle cramps in the arms or legs, and as the disease progresses, it may result into pulling parts of the body more or less permanently into abnormal postures
  • ataxia: loss of the ability to coordinate muscular movement
  • muscular rigidity
  • dysarthria: this is the medical term for speech abnormality. The dysarthria in Wilson's disease can take many forms, including slurring, low volume, a repetitive aspect in trying to pronounce certain words, and can progress to complete inability to speak (anarthria).

About one third of patients initially present with psychiatric abnormalities, including depression, personality and mood changes.