Wilson's Disease – Diagnosis of Wilson's Disease

Wilson’s disease

is a condition where there is excess accumulation of copper in the body. In this disease, copper accumulates in the liver, brain, eyes and other organs of the body. The disease is named after

Dr. Samuel Alexander Kinner Wilson,

the British neuro-specialist who first described this condition in 1912. In this article, we shall discuss how Wilson disease is diagnosed.

It is normal to have a small amount of copper in the body. It is needed to stay healthy. When copper accumulates more than limit it causes symptoms such as tremors, muscle stiffness, difficult swallowing, uncontrolled movements and fatigue. Many other symptoms occur in the body due to abnormal levels of copper.

Diagnosis of Wilson’s Disease:

The first step in diagnosis of Wilson disease is thorough physical examination, seeing for the above symptoms. However, the most important observation is Kayser-Fleischer rings in eyes.

Kayser-Fleischer rings

are result of a buildup of copper in the eyes. The rings appear in each eye as a rusty brown circle around the edge of the iris and in the rim of the cornea. The cornea is the transparent outer membrane covering the eye and the iris is the colored part of the eye. Following figure shows Kayser-Fleischer rings in the eye of the person suffering from Wilson disease.

Wilson disease diagnosis

Laboratory tests:

The amount of copper in the blood, urine, and liver tissue are measured in laboratory. Patients with Wilson’s disease have a lower than normal level of copper in the blood. They also have a lower level of corresponding ceruloplasmin, a protein that carries copper in the blood. Level of copper in urine is seen by a 24-hour urine collection. In this disease the test shows increased copper levels in the urine.


liver biopsy

is analyzed to see the copper deposits in the liver. If the doctor finds a pattern unique to Wilson disease, he confirms the disease.

Genetic testing

helps to diagnose the disease in some people who have family history of the disease. Mutation analysis of the ATP7B gene is performed. Once a mutation is confirmed, the doctor screens family members following family counseling regarding the disease.

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