Wilson disease

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.

Thrombocytopenia

Advanced liver disease can lower the platelet count (thrombocytopenia), which can make bruising and bleeding more likely.

Hemolytic anemia

Copper released into the blood can damage red blood cells, causing them to break down (hemolytic anemia). This is sometimes the first sign of Wilson disease.

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.

Hypoalbuminemia

A damaged liver makes less albumin, the main protein in blood (hypoalbuminemia), which contributes to swelling and fluid buildup.

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.

Edema

Reduced liver function lowers blood protein levels, which can cause swelling (edema), often generalized.

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.

Elevated circulating aspartate aminotransferase concentration

Blood tests often show raised liver enzymes such as AST, alongside ALT, reflecting liver injury.

Hyperbilirubinemia

Liver involvement can raise bilirubin levels, which causes jaundice (yellowing of the skin and eyes).

Elevated circulating alanine aminotransferase concentration

Blood tests often show raised liver enzymes such as ALT, a sign that liver cells are being damaged.

Jaundice

Yellowing of the skin and eyes (jaundice) can occur when the liver is affected, sometimes together with changes in behaviour.

Ascites

When liver damage is advanced, fluid can build up in the abdomen (ascites).

Hepatomegaly

Copper builds up in the liver first, so an enlarged liver (hepatomegaly) and other signs of liver involvement are common, especially in children and young people.

Cirrhosis

Long-standing copper-related liver injury can progress to cirrhosis, scarring of the liver.

Wilson disease

Diagnosed using: Serum ceruloplasmin.

Wilson disease

Diagnosed using: 24-hour urinary copper.

Wilson disease

Diagnosed using: Kayser-Fleischer ring eye examination.

Wilson disease

Diagnosed using: ATP7B genetic testing.

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.

Zinc

Zinc reduces how much copper the gut absorbs from food. It is used to treat Wilson disease, often for long-term maintenance after copper levels are brought down.

Used to help with: Wilson disease.

Trientine

Trientine is a copper-binding (chelating) medicine that helps the body remove excess copper. It is an alternative for people who cannot take penicillamine.

Used to help with: Wilson disease.