A Farmer With Diffuse Pruritus and a Suntan That Won't Fade

Eric Fox, DO; Neal T. Patel; Anand D. Patel, MD

Disclosures

June 08, 2021

Discussion

The MRI scan revealed an 11-cm mildly T2 hyperintense mass originating in segment 8 that restricted diffusion, with an enhancing capsule (Figures 1-3). These findings confirmed a diagnosis of hepatocellular carcinoma (HCC).

Figure 1.

Figure 2.

Figure 3.

HCC is the most common primary cancer of the liver and is usually associated with chronic hepatic diseases. It is the fifth most common cancer in men and seventh most common in women.[1] The risk factors most frequently associated with HCC are the following:

  • Cirrhosis

  • Viral hepatitis

  • Alcohol use

  • Tobacco use

  • Metabolic factors, such as nonalcoholic fatty liver disease, diabetes, and obesity

Hereditary and autoimmune conditions that cause liver disease (such as hemochromatosis and primary biliary cirrhosis) are important considerations as well. Hereditary hemochromatosis is one of the most common genetic disorders in individuals of Northern European ancestry.[2] Although the biological and physiologic functions of the HFE gene within the liver are not fully understood, several case-control and population-based studies have confirmed that HFE mutations confer increased risk for HCC.[2]

This patient presented with bronze skin, a family history of liver disease, an elevated serum ferritin concentration, and abnormal liver enzyme levels. Given the classic findings of hemochromatosis, as well as the unexplained liver dysfunction, HFE genetic testing was performed. The test was positive for the C282Y mutation, thus confirming the diagnosis of hereditary hemochromatosis.

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