Wilson disease
- Lesion
In Wilson disease the liver cannot put copper into bile, so copper builds up in the liver, then in the brain and eyes.
What it is
Wilson disease is an autosomal recessive defect of ATP7B, the copper-transporting ATPase of hepatocytes. Copper cannot be excreted into bile or loaded into ceruloplasmin, so it accumulates in the liver, causing injury that ranges from steatosis to acute liver failure and cirrhosis. Free copper later spills into the blood and deposits in the brain (basal ganglia) and cornea. It usually presents between childhood and early adulthood and is treatable, so it must be considered in any young person with unexplained liver disease.
Structure
- Liver: macro- and microvesicular steatosis, glycogenated nuclei, Mallory-Denk bodies, hepatitis that may mimic autoimmune or viral disease, then cirrhosis.
- Copper may be shown with rhodanine stain, though staining is patchy; quantitative copper measurement is more reliable.
- Brain: atrophy and sometimes cavitation of the putamen; Opalski cells.
Step by step
- Dietary copper is absorbed and reaches the liver bound to albumin.
- ATP7B normally loads copper into ceruloplasmin and excretes the excess into bile.
- With ATP7B lost, copper accumulates in hepatocytes and generates free radicals.
- Hepatocytes are injured: steatosis, hepatitis, necrosis, fibrosis.
- Non-ceruloplasmin copper leaks into the blood, causing hemolysis and deposits in brain and cornea.
Markers
- Rhodanine (copper)
- Orcein (copper-associated protein)
- Quantitative hepatic copper
Clinical notes
- Present with liver disease (often children and adolescents) or neuropsychiatric disease (often young adults).
- Treated with copper chelators or zinc; transplantation cures the metabolic defect.
Test yourself
Think of the answer, then tap the question to see it.
What does the ATP7B protein normally do?
It transports copper into the secretory pathway of hepatocytes, loading it onto ceruloplasmin and excreting the excess into bile.
Where is copper seen as a Kayser-Fleischer ring?
In Descemet membrane at the limbus of the cornea.
Which brain structure is classically damaged in Wilson disease?
The putamen (basal ganglia), giving movement and psychiatric disorders.
What lab pattern suggests Wilson disease in a young person with liver failure?
Coombs-negative hemolysis with very low alkaline phosphatase relative to bilirubin, low ceruloplasmin and high urinary copper.
Elsewhere in DurgiPedia
Connections
Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.
Sources: Wilson disease: MedlinePlus Medical Encyclopedia (MedlinePlus, US National Library of Medicine, 2026); Wilson disease: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026).
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Representative model, for educational purposes only.