Hepatic iron overload or cirrhosis may occur in acquired copper deficiency and is likely mediated by hypoceruloplasminemia.
BACKGROUND
The metabolic fates of copper and iron are closely linked through ceruloplasmin and hephaestin. Ceruloplasmin is the principal copper carrying protein and decreases in acquired copper deficiency. Congenital absence of ceruloplasmin (aceruloplasminemia) results in tissue iron overload. Animal studies suggest hypoceruloplasminemia and impaired hephaestin function result in tissue iron accumulation.


OBJECTIVE
There are no data on hepatic function, pathology, and iron status in patients with acquired copper deficiency. This report studies these issues in 4 patients with acquired copper deficiency.


METHODS
This is a retrospective review of hepatic status (imaging, liver function tests, liver biopsy) in 4 patients with neurologic and hematologic manifestations of acquired copper deficiency who also had imaging and/or pathologic evidence of hepatic dysfunction.


RESULTS
Two patients (cases 1 and 2) showed imaging evidence of cirrhosis and pathologic evidence of cirrhosis or advanced fibrosis. Two patients (cases 3 and 4) had pathologic evidence of hepatic iron overload. All patients had some evidence of abnormality on liver function tests.


CONCLUSIONS
Acquired copper deficiency causes a secondary ceruloplasmin deficiency which can result in hepatic iron overload and/or cirrhosis.
Thackeray
Erin W
EW
Department of Internal Medicine, Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
Sanderson
Schuyler O
SO
Fox
Jean C
JC
Kumar
Neeraj
N
D000368:Aged; D001706:Biopsy; D002570:Ceruloplasmin / Q000172:deficiency*; D003300:Copper / Q000172:deficiency* / Q000378:metabolism; D006402:Hematologic Diseases / Q000209:etiology*; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000378:metabolism / Q000473:pathology*; D008103:Liver Cirrhosis / Q000150:complications / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D008111:Liver Function Tests; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology
D003300:Copper; D002570:Ceruloplasmin