TY - JOUR
T1 - Marked iron in liver explants in the absence of major hereditary hemochromatosis gene defects
T2 - A risk factor for cardiac failure
AU - Fenton, Hubert
AU - Torbenson, Michael
AU - Vivekanandan, Perumal
AU - Yeh, Matthew M.
AU - Hart, John
AU - Ferrell, Linda
PY - 2009/4/27
Y1 - 2009/4/27
N2 - BACKGROUND.: Patients with hereditary hemochromatosis are known to have an increased risk for morbidity and mortality after orthotopic liver transplantation. METHODS.: The clinical, histological, and genetic findings were examined in a series of seven adult patients with marked iron accumulation in their liver explants and cardiac failure despite the absence of HFE mutations. RESULTS.: Causes for cirrhosis were alcohol and hepatitis C virus (HCV) (n=2), HCV (n=1), alcohol (n=1), and cryptogenic cirrhosis (n=3). Ages at transplantation ranged from 46 to 62 years. Genetic studies confirmed all seven cases were negative for HFE mutations C282Y and H63D. The liver explants showed marked iron accumulation that predominately involved hepatocytes, with more than 90% of the iron in hepatocytes. Two patients required cardiac transplantation and four died of cardiac failure. Cardiac tissues obtained from autopsies (n=3), endomyocardial biopsy (n=1), or cardiac transplants (n=2) showed marked myocyte hypertrophy and iron deposits with or without interstitial fibrosis. CONCLUSIONS.: This study highlights a unique set of liver transplant patients with marked iron deposition in their cirrhotic liver who developed severe cardiac failure and have iron deposits in the heart, despite the absence of major HFE gene mutations. The cause of the systemic iron overload remains to be discovered.
AB - BACKGROUND.: Patients with hereditary hemochromatosis are known to have an increased risk for morbidity and mortality after orthotopic liver transplantation. METHODS.: The clinical, histological, and genetic findings were examined in a series of seven adult patients with marked iron accumulation in their liver explants and cardiac failure despite the absence of HFE mutations. RESULTS.: Causes for cirrhosis were alcohol and hepatitis C virus (HCV) (n=2), HCV (n=1), alcohol (n=1), and cryptogenic cirrhosis (n=3). Ages at transplantation ranged from 46 to 62 years. Genetic studies confirmed all seven cases were negative for HFE mutations C282Y and H63D. The liver explants showed marked iron accumulation that predominately involved hepatocytes, with more than 90% of the iron in hepatocytes. Two patients required cardiac transplantation and four died of cardiac failure. Cardiac tissues obtained from autopsies (n=3), endomyocardial biopsy (n=1), or cardiac transplants (n=2) showed marked myocyte hypertrophy and iron deposits with or without interstitial fibrosis. CONCLUSIONS.: This study highlights a unique set of liver transplant patients with marked iron deposition in their cirrhotic liver who developed severe cardiac failure and have iron deposits in the heart, despite the absence of major HFE gene mutations. The cause of the systemic iron overload remains to be discovered.
KW - Cardiac failure
KW - Iron overload
KW - Liver transplantation
KW - Non-hereditary hemochromatosis
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U2 - 10.1097/TP.0b013e31819f2280
DO - 10.1097/TP.0b013e31819f2280
M3 - Article
C2 - 19384175
AN - SCOPUS:65549122533
SN - 0041-1337
VL - 87
SP - 1256
EP - 1260
JO - Transplantation
JF - Transplantation
IS - 8
ER -