Wilson Disease

Overview

Wilson disease is an inherited condition in which the body retains too much copper. The liver cannot properly get rid of copper into bile and so copper builds up in the body. As a result, copper deposition in the liver and other organs such as the kidneys, brain, and eyes damages these tissues. If left untreated, Wilson disease can lead to brain damage, liver failure, and eventually death.

Signs & Symptoms of Wilson Disease

Figure: Kayser-Fleischer Ring. Courtesy of EyeAtlas.com.

Symptoms typically begin to appear in a person with Wilson disease between ages 6 and 20. One of the most characteristic signs of Wilson disease is the Kayser-Fleischer ring, which can be found lining the limbus of the eye. The Kayser-Fleischer ring appears as a rusty-brown ring around the cornea, which can only be seen using the magnification of a specialized ophthalmic instrument. Further symptoms of Wilson disease depend on areas of copper deposition and must be interpreted by a trained physician. Some symptoms associated with Wilson disease are listed below:

jaundice
vomiting blood
speech & language problems
tremors in the arms and hands
rigid muscles

Detection & Diagnosis of Wilson Disease

Definitive diagnosis of Wilson disease is accomplished through measuring the amount of copper in the bloodstream. Once diagnosed, the concentration of copper in the blood is continually monitored for life.

Wilson Disease Treatment

Wilson disease is treated with a lifelong D-penicillamine or trientine hydrochloride drug treatment. These drugs help to remove copper from tissues. Additional vitamin and mineral supplements may also be prescribed to promote excretion and to lower intake of copper.

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