Wilson disease
Explanation
Wilson disease is a rare inherited condition in which extra copper builds up because the body cannot remove it normally.
What happens in Wilson disease?
The body needs a small amount of copper, but excess copper is harmful. Normally, the liver sends extra copper into bile, a digestive fluid. In Wilson disease this process does not work properly, so copper builds up, first especially in the liver, and can damage other organs.
When can symptoms appear?
Wilson disease is present from birth because it is inherited, but symptoms may not appear until later. It can affect the liver, nervous system, eyes, kidneys, or a combination of these. The pattern varies from person to person.
How is it investigated?
Diagnosis combines medical history, examination, and laboratory findings. Ceruloplasmin is a protein that carries copper in the blood, and its level can be measured with a blood test. Ceruloplasmin and urine copper are examples of related tests, but no single result should be treated as proof of Wilson disease by itself. Eye examination and other tests may also contribute.
Why does an early diagnosis matter?
Copper can continue to build up and cause organ damage. Finding the condition allows the care team to discuss treatment and long-term monitoring. The exact plan depends on the person’s findings and should be managed by clinicians experienced with the condition.
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