Autoimmune Hepatitis in the Setting of Iron Overload Secondary to Heterozygous HFE Gene Mutation

Abstract

Autoimmune hepatitis (AIH) is an inflammatory condition of the liver that is characterized by high titers of certain autoantibodies in the serum. As in other chronic inflammatory conditions, the transferrin saturation in patients with AIH is typically low. However, in rare instances, AIH has been reported to be associated with elevated transferrin saturation secondary to heterozygous HFE gene (H63D) mutation. This report describes one such case in which the patient had characteristic histopathologic findings of AIH but was also found to have iron overload and heterozygous H63D mutation on genetic testing, leading to the initial dual differential diagnosis of AIH and hemochromatosis, which highlighted the further need of obtaining a liver biopsy.

Keywords: autoimmune hepatitis; dual diagnosis; h63d; hepatology; heterozygous hfe gene mutation; iron overload; liver biopsy; secondary hemochromatosis.