Eng Sue C, Taylor Shari L, Reyes Victoria, Raaka Stuart, Berger Jose, Kowdley Kris V
Department of Medicine, University of Washington Medical Center Seattle, WA 98195, USA.
Liver Int. 2005 Jun;25(3):513-7. doi: 10.1111/j.1478-3231.2005.01004.x.
End-stage cirrhosis in the absence of hereditary hemochromatosis (HHC) can be associated with moderate to marked hepatic iron overload, especially in liver disease as a result of alcohol and/or hepatitis C. However, no published studies have addressed extrahepatic iron deposition in this setting.
A retrospective case series from three autopsied patients who died from end-stage cirrhosis associated with significant hepatic iron overload. Histology of vital organs was performed to detect extrahepatic iron deposition. HFE genotyping for the C282Y and H63D mutations was determined from archival tissue. Hepatic iron index and hepatic iron concentration (HIC) were quantified from formalin-fixed, paraffin-embedded tissue. Medical records were reviewed for possible causes of iron overload.
Two patients were H63D heterozygous (H63D +/-) and one was wild type (C282Y -/-, H63D -/-). Histology revealed evidence of stainable iron in the heart and pancreas of all three subjects. Additionally, stainable iron was seen in the stomach in one subject and in the thyroid, pituitary, choroid plexus and testes in another subject. HIC ranged from 4354 to 6834 microg/g dry weight and HII from 1.8 to 2.2 (micromol/g/years).
Iron overload secondary to end-stage liver disease can be associated with iron deposition in other organs in the absence of HFE-1 HHC.
在无遗传性血色素沉着症（HHC）的情况下，终末期肝硬化可能与中度至重度肝铁过载相关，尤其是在酒精性肝病和/或丙型肝炎所致的肝病中。然而，尚无已发表的研究探讨这种情况下的肝外铁沉积情况。
对3例因终末期肝硬化合并显著肝铁过载死亡的患者进行尸检的回顾性病例系列研究。对重要器官进行组织学检查以检测肝外铁沉积。从存档组织中检测C282Y和H63D突变的HFE基因分型。从福尔马林固定、石蜡包埋的组织中定量肝铁指数和肝铁浓度（HIC）。查阅病历以寻找铁过载的可能原因。
2例患者为H63D杂合子（H63D+/-），1例为野生型（C282Y-/-，H63D-/-）。组织学检查显示，所有3例患者的心脏和胰腺均有可染色铁沉积的证据。此外，1例患者的胃以及另1例患者的甲状腺、垂体、脉络丛和睾丸中可见可染色铁沉积。HIC范围为4354至6834μg/g干重，HII范围为1.8至2.2（μmol/g/年）。
在无HFE-1 HHC的情况下，终末期肝病继发的铁过载可能与其他器官的铁沉积有关。
