Wilson's disease

Alternative names

Hepatolenticular degeneration

Definition

Wilson's disease is an inherited disorder where there is excessive amounts of copper in the body. This causes a variety of effects, including liver disease and damage to the nervous system.

Causes, incidence, and risk factors

Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance that each of their children will develop the disorder (i.e., it is an autosomal recessive disease).

Wilson's disease causes the body to absorb and retain excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop functioning properly. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder. If not caught and treated early, Wilson's disease is fatal.

It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disorder most commonly appears in people under 40 years old. In children, the symptoms begin to be expressed by around 4 years old.

Symptoms

• enlargement of the abdomen (abdominal distention)
  
• splenomegaly
  
• yellow skin (jaundice) or eye color (icterus)
  
• vomiting blood
  
• weakness
  
• tremors of the arms or hands
  
• difficulty moving extremities, stiffness
  
• abnormal extremity posture (dystonia)
  
• slow movements
  
• difficulty walking
  
• movement - unpredictable and jerky
  
• movement - uncontrollable
  
• movement - slow
  
• weakness of the head, neck, face, or arms
  
• speech impairment, poor enunciation
  
• slow or decreased facial movement/expression
  
• emotional or behavioral changes
  
• confusion or delirium
  
• dementia (loss of multiple brain functions)
  

Signs and tests

An eye examination may show: