History
The first information about the appearance of hemochromatosis was given by a Mr. Armand Trousseau in the 19th century. He described a symptom complex consisting of liver cirrhosis, diabetes and dark skin pigmentation. 20 years later the term hemochromatosis was coined. In the 1970s, the autosomal recessive inheritance was recognized and in the 1990s the causative gene (HFE gene) was finally discovered. Scientists believe that the mutation of this gene provided a survival advantage in times of malnutrition because the iron was stored in increased amounts.
Summary
Hemochromatosis is a metabolic disease in which there is increased storage of iron in the body’s organs and tissues. Hemochromatosis belongs to the large group of hereditary diseases and is based on a genetic defect of the so-called HFE gene, which is responsible for regulating the absorption of iron from the intestine. These iron deposits damage organs and tissues and can be deposited in the skin, causing a bronze-colored discoloration.
The organs that are affected are mainly the heart and liver. If hemochromatosis remains undetected, liver cirrhosis can develop and finally hepatocellular carcinoma. Therapeutic measures include bloodletting and dietary iron restriction.
Bloodletting lowers the diagnostically important ferritin level in order to reduce the amount of body iron. Prognostically, hemochromatosis is dependent on the concomitant diseases, and essentially on the extent of liver damage. About 35% of hemochromatosis patients develop liver cancer due to liver cirrhosis.
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