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FAQ Frequently asked questions
What is Wilson's disease?
Wilson's disease is a rare genetic disorder that is associated with the accumulation of excess copper throughout the body.
What are the symptoms of Wilson's disease?
The symptoms of Wilson's disease can vary widely and depend on which organs or structures have been affected by the build-up of copper. When the liver is affected, some of the symptoms may include jaundice, nausea, loss of appetite, vomiting, …
What causes Wilson's disease?
Wilson's disease is caused by a mutation on chromosome 13 in the gene ATP7B. Mutations in this gene can lead to the abnormal accumulation of copper throughout the body.
How is Wilson's disease diagnosed?
The diagnosis of Wilson's disease is typically based on: blood and urine tests that measure the levels of copper, ceruloplasmin, liver function and full blood count; eye examinations that identify the characteristic golden-brown discoloring caused by …
How is Wilson's disease treated?
Treatment for Wilson's disease involves reducing the level of copper in the body and preventing its further accumulation. Treatment is lifelong and may include medication to eliminate excessive build-up of copper, medication to reduce further absorption of …
Can Wilson's disease be cured?
There is presently no known cure for Wilson's disease, but if diagnosed early, treatment allows for an excellent outcome.
Will Wilson's disease clear on its own?
Without medical treatment, Wilson's disease can prove fatal.
About this article
Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 13 Jul 2015
Last reviewed: 19 May 2018
Rating: 4.6 out of 5
Votes: 542 (Click smiley face below left to rate)
Category: Wilson's disease