Very rare. Autosomal dominant transmission. Anomaly of the metabolism of iron (see also'hereditary hemochromatosis'). The oxidative activity of ceruloplasmin is necessary to the action of ferroportin (responsible for the extraction of iron from cells) and the binding of iron to transferrin. In absence of ceruloplasmin, iron accumulates in the tissues. Iron overload presents in adulthood, with diabetes mellitus and neurological disorders (optic neuropathy, extrapyramidal syndrome, cognitive disorders that may progress to dementia) and liver damage (fibrosis). There is a frequent tendency to anemia.

Diagnosis: hyperferritinemia with a low to normal transferrin saturation coefficient.

 

Anesthetic implications: 

none before adulthood. Afterwards, check whether the diabetes is well controlled as well as the liver function

References : 

Updated April 2019