Alcohol Use Unmasking Heterozygous Hereditary Hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excess iron absorption in the body following a mutation in the HFE gene. Though prolonged iron deposition has been shown to cause clinical symptoms such as hyperpigmentation, arthralgias, and liver damage, many individuals remain asymptomatic and exhibit no signs of iron overload. Here, we present a case where a 34-year-old with a history of severe alcohol use disorder presented with high iron, ferritin and transferrin saturation levels indicative of iron overload. Further testing for HFE gene mutations revealed simple heterozygote C282Y status, confirming the diagnosis of hereditary hemochromatosis. Simple heterozygotes, however, typically do not present with any symptoms of iron overload. This patient was counseled on lifestyle modifications which included abstaining from alcohol and reducing iron and vitamin C intake. As a result, his iron panel parameters improved. Thus, our case highlights that excessive alcohol consumption can exacerbate hereditary hemochromatosis and risk for overload even among heterozygotes.