What it is
Wilson disease is an inherited condition caused by changes in the ATP7B gene that disrupt how the body handles copper, so copper builds up and damages organs such as the liver and brain.
Signs and symptoms
Face of the giant panda sign
The 'face of the giant panda' is a characteristic pattern seen on brain MRI in some people with Wilson disease.
Splenomegaly
An enlarged spleen can occur as a consequence of the liver disease seen in Wilson disease.
Autosomal recessive inheritance
Wilson disease is passed on in an autosomal recessive pattern: a person is affected only when they inherit a changed copy of ATP7B from both parents.
Kayser-Fleischer ring
Kayser-Fleischer rings are coppery-brown rings at the edge of the cornea caused by copper deposits, a classic eye sign of Wilson disease.
Increased urinary copper concentration
A raised amount of copper in a 24-hour urine collection reflects the copper overload of Wilson disease and supports the diagnosis.
Decreased circulating ceruloplasmin concentration
A low level of ceruloplasmin, the main copper-carrying protein in the blood, is a common laboratory finding used to help diagnose Wilson disease.
Jaundice
Yellowing of the skin and eyes (jaundice) can occur when the liver is affected, sometimes together with changes in behaviour.
Cirrhosis
Long-standing copper-related liver injury can progress to cirrhosis, scarring of the liver.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Penicillamine
Penicillamine is a copper-binding (chelating) medicine used to treat Wilson disease by helping the body remove excess copper.
Used to help with: Wilson disease.
“Treatment with penicillamine and zinc supplementation was initiated, after which the child experienced gradual improvement in joint symptoms along with normalization of liver biochemical parameters.”
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How to read the evidence labels
Where this comes from
This guide is built from 2 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.