RT Journal Article
SR Electronic
T1 Hepatic iron overload in aceruloplasminaemia
JF Gut
JO Gut
FD BMJ Publishing Group Ltd and British Society of Gastroenterology
SP 858
OP 860
DO 10.1136/gut.47.6.858
VO 47
IS 6
A1 N E Hellman
A1 M Schaefer
A1 S Gehrke
A1 P Stegen
A1 W J Hoffman
A1 J D Gitlin
A1 W Stremmel
YR 2000
UL http://gut.bmj.com/content/47/6/858.abstract
AB We report the case of a 52 year old male with diabetes mellitus and long standing evidence of hepatic iron excess. Initially considered to have haemochromatosis, this patient was reevaluated when hepatic iron stores were found to be unaffected by a prolonged course of weekly phlebotomy. The development of neurological disease prompted diagnostic consideration of aceruloplasminaemia, which we confirmed by demonstration of a novel frameshift mutation in the ceruloplasmin gene. Our inability to resolve the patient's iron overload by regular phlebotomy is consistent with recent animal studies indicating an essential role for ceruloplasmin in cellular iron efflux. Evaluation of this case underscores the clinical relevance of aceruloplasminaemia in the differential diagnosis of hepatic iron overload and provides insight into the pathogenetic mechanisms of hepatocellular iron storage and efflux.