pathology
Last reviewed 01/2018
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:
- basal ganglia - with neurological sequalae
- kidneys - causing tubuar degeneration and thus a Fanconi syndrome
- cornea - with Kayser-Fleischer rings
- bones and joints, with erosions
- parathyroid glands
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.