Diagnosis and Treatment of Hereditary Hemochromatosis
Diagnosis and Treatment of Hereditary Hemochromatosis
Patients with cirrhosis due to HH as with other causes of cirrhosis are at increased risk of hepatocellular carcinoma (HCC) and should undergo HCC surveillance every 6 months. Although the mean risk of HCC in HH patients, especially those with cirrhosis was thought to be approximately 8–10% based on multiple studies, recent studies have reported that the risk is probably lower. These studies suggest that approximately 5–6% of men and 1.5% women with HH will develop HCC. Moreover, HCC in the absence of cirrhosis has been reported in HH suggesting a role of iron in carcinogenesis. Ko et al. showed that hepatic iron loading in various end stage liver diseases was associated with increased risk of HCC. Even after adjusting for the underlying cause of liver disease, iron loading independently increased the risk of HCC. This supports the hypothesis that patients with HH-related cirrhosis who are at higher risk for HCC and even those with already diagnosed HCC should undergo iron depletion to decrease the carcinogenic effect of iron and thus decrease the risk of developing HCC.
HH patients, especially C282Y homozygotes, have also been shown to have increased risk of breast and colorectal cancers and age appropriate screening should be strongly advised in such individuals. An association between TS, TIBC or SF and increased risk of all cancers has been also shown in multiple studies. These studies have therefore renewed interest in iron and its role in carcinogenesis.
Cancer Risk
Patients with cirrhosis due to HH as with other causes of cirrhosis are at increased risk of hepatocellular carcinoma (HCC) and should undergo HCC surveillance every 6 months. Although the mean risk of HCC in HH patients, especially those with cirrhosis was thought to be approximately 8–10% based on multiple studies, recent studies have reported that the risk is probably lower. These studies suggest that approximately 5–6% of men and 1.5% women with HH will develop HCC. Moreover, HCC in the absence of cirrhosis has been reported in HH suggesting a role of iron in carcinogenesis. Ko et al. showed that hepatic iron loading in various end stage liver diseases was associated with increased risk of HCC. Even after adjusting for the underlying cause of liver disease, iron loading independently increased the risk of HCC. This supports the hypothesis that patients with HH-related cirrhosis who are at higher risk for HCC and even those with already diagnosed HCC should undergo iron depletion to decrease the carcinogenic effect of iron and thus decrease the risk of developing HCC.
HH patients, especially C282Y homozygotes, have also been shown to have increased risk of breast and colorectal cancers and age appropriate screening should be strongly advised in such individuals. An association between TS, TIBC or SF and increased risk of all cancers has been also shown in multiple studies. These studies have therefore renewed interest in iron and its role in carcinogenesis.
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