End-stage cirrhosis in the absence of hereditary hemochromatosis 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.
Dr Kowdley and colleagues from Seattle conducted a retrospective case series from 3 autopsied patients who died from end-stage cirrhosis associated with significant hepatic iron overload.
The researchers performed the histology of vital organs to detect extrahepatic iron deposition.
|Stainable iron was found in the heart and pancreas of all 3 subjects|
The research team determined HFE genotyping for the C282Y and H63D mutations from archival tissue.
Hepatic iron index and hepatic iron concentration were quantified from formalin-fixed, paraffin-embedded tissue.
The team reviewed medical records were reviewed for possible causes of iron overload.
The researchers reported that 2 patients were H63D heterozygous (H63D +/-), and one was wild type (C282Y -/-, H63D -/-).
The researchers found evidence of stainable iron in the heart, and pancreas of all 3 subjects.
Additionally, the team observed stainable iron in the stomach in 1 subject, and in the thyroid, pituitary, choroid plexus and testes in another subject.
The research team noted that hepatic iron concentration ranged from 4354 to 6834 μg/g dry weight and hepatic iron index from 1.8 to 2.2 (μmol/g/years).
Dr Kowdley's team concluded, “Iron overload secondary to end-stage liver disease can be associated with iron deposition in other organs in the absence of HFE-1 hereditary hemochromatosis.”