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Hereditary Hemochromatosis

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Primary iron overload disorders typically result from genetic mutations, which alter iron homeostasis in the GI tract and liver; examples include classic HFE-related hereditary hemochromatosis (HH), non-HFE hereditary hemochromatosis, aceruloplasminemia, and others. Classic HFE-related HH is autosomal recessive and is the most common genetic disorder in white caucasians. The first histologic abnormality is stainable iron in the periportal hepatocytes. As iron deposition increases, parenchymal siderosis develops and, if untreated, can progress to cirrhosis as fibrosis and hepatocellular hyperplasia ensue. The image shows micronodular cirrhosis in a case of hereditary hemochromatosis. Image Copyright: pathorama.ch.

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