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Investigation

Authoring team

Investigations include:

  • copper:
    • elevated levels of serum free copper, urine copper and hepatic copper
    • reduced levels of total serum copper and caeruloplasmin
    • urinary copper increased
      • this is increased dramatically by a test dose of D - penicillamine
  • liver biopsy - there is a 1.5 to 25 fold increase in hepatic copper levels - however, this may also occur in chronic cholestasis - for example, primary biliary cirrhosis
  • measurement of incorporation of labelled copper into the liver may be helpful
  • anaemia and haemolysis may be present

Note that total serum copper is almost invariably low but may be high in fulminant hepatitis (massive copper release from hepatocytes). Also, caeruloplasmin levels, in general, are low, but may increase with an acute-phase response, e.g. infection.

 


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