Simultaneous Occurrence of Wilson’s Disease, Autoimmune Hepatitis, and Hereditary Hemochromatosis: A Diagnostic Challenge

Reza Fatemi, Shahryar Movassagh-koolankuh, Nazanin Mosadeghi


This is not surprising to detect iron overload in chronic liver diseases and end-stage liver diseases since Kupffer cells scavenge necrotic hepatocytes during the course of liver damage, leading to an increased serum iron level and transferrin saturation compatible with iron overload even in the absence of a genetic mutation suggestive of hereditary hemochromatosis. Therewith, a relative association has been found between some sorts of chronic liver diseases like non-alcoholic steatohepatitis and hepatitis C with human homeostatic iron regulator protein (HFE: High Fe2+) gene mutations. Moreover, impairment of ceruloplasmin ferroxidase activity in the course of Wilson’s disease, leading to the accumulation of ferrous ions just like what is expected in aceruloplasminemia, is another known reason for iron overload accompanied by chronic liver disease. Of chronic liver diseases, autoimmune hepatitis, and cholestatic liver diseases are less related to iron overload. Accordingly, the coexistence of Wilson’s disease, autoimmune hepatitis, and hereditary hemochromatosis when there exist clinical features, laboratory tests, genetic confirmation, and histological evaluations indicative of the three mentioned diseases is exceedingly rare. Here, we present a 55-year-old man referred with progressive generalized icterus accompanied by loss of appetite and significant weight loss. The presented case was not an appropriate candidate for liver biopsy due to recent coronary angioplasty and the urgent need for dual antiplatelet therapy. However, medical follow-ups were highly suggestive of concomitant Wilson’s disease, hereditary hemochromatosis, and autoimmune hepatitis. The attempts failed for the treatment of hereditary hemochromatosis and Wilson’s disease with chelating agents until the completion of the course of treatment with immunosuppressants targeting components of the autoimmune hepatitis-related immune system.


Autoimmune hepatitis; Hereditary hemochromatosis; Wilson’s disease; Acute liver failure

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