This is a progressive degenerative disorder of copper metabolism in which toxicity develops in various organs such as the liver and the nervous system. It is named after Samuel Alexander Kinnier Wilson, an English neurologist, who described the essential signs and symptoms in 1912.
The major and perhaps most serious organ involvement is the liver. Jaundice with or without signs of acute liver failure can be seen anytime from age 3 years to over 50. Complete liver failure may occur suddenly. The toxic effects of copper accumulation can also result in neurologic disease, from depression to disorders of gait, poor coordination, and loss of fine movements. Some patients develop involuntary movements such as a tremor or writing motion in the hands. A mask-like facies may also be present. Other patients develop behavioral changes and may suffer some mental deterioration.
The eyes may show evidence of copper deposition in the cornea (the clear windshield of the eye) with a golden-brown ring near the edge (called Kayser-Fleischer ring). The lens in the eye may have a characteristic configuration of opacities called a ‘sunflower cataract’. Neither of these opacities causes a significant reduction of vision.
This is an autosomal recessive disease requiring the presence of a mutation in both copies of a specific gene. The parents, who have one copy of the mutation, are clinically normal although biochemical changes have been reported. When both parents carry a single mutation, there is a 25% risk of Wilson disease appearing in each of their offspring.
The diagnosis is often made by a pediatrician or internist in the presence of liver and neurologic disease, especially when the Kayser-Fleischer rings are present in the eyes. Several drugs such as D-penicillamine or zinc can improve symptoms but the treatment must be maintained throughout life. Liver failure is a potential cause of death unless a transplant is done.