The fundamental defect is a failure of hepatic excretion of copper into bile - copper accumulates in the liver and secondarily suppresses the synthesis of caeruloplasmin. Eventually, copper spills over into the circulation and deposits also in the:
Histological appearances of the liver are not diagnostic and vary from that of chronic active hepatitis to a macronodular cirrhosis. Copper staining may reveal a periportal distribution.
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page