HFE Gene Mutations, Iron Overload and Cryptogenic Liver Cirrhosis

The diagnosis of cryptogenic cirrhosis is an exclusion diagnosis. It has become far less frequent over the last decades, but it still effects a significant number of patients. Many previously unknown chronic liver disease entities were described in the second half of the last century, including chronic viral hepatitis B, C and D, along with refined criteria for diagnosing autoimmune hepatitis and insights into the pathogenesis and disease progression of fatty liver disease (1). Although hemochromatosis, and its pathophysiology were not understood until cloning of the HFE-gene (2), it has been known as a chronic liver disease for a long time, although it may be under-recognized due to the lack of specific symptoms and thus contribute to cases of cryptogenic cirrhosis.