What is Hereditary Hemochromatosis? Hereditary Hemochromatosis is a genetic disease that results in excess iron absorption and subsequent organ damage.
What causes hemochromatosis? The main cause of Hereditary Hemochromatosis is a mutation in the HFE gene, which helps regulate the amount of iron absorbed from the food we eat. Those who inherit the mutation from both parents may develop hemochromatosis. Those who inherit the mutation from only one parent are considered carriers for the disease, and usually do not accumulate excess iron or develop significant organ damage.
What are the symptoms of hemochromatosis? Many patients with hemochromatosis will not have any symptoms and may be referred to a gastroenterologist for abnormal liver tests found on routine lab checks. When present, symptoms of hemochromatosis may include joint pains, fatigue, abdominal pain, skin discoloration, impotence, or heart problems.
How is hemochromatosis diagnosed? In patients with elevated iron levels, genetic testing is preformed to look for hemochromatosis. Liver biopsy may be performed to confirm the diagnosis or determine the extent of damage to the liver.
What is the treatment for Hemochromatosis? Treatment is with phlebotomies, or donating blood weekly until iron stores reach a normal level. This process may take a year or longer. The goal is to maintain a normal amount of iron in the body
What are the long-term effects? Some patients may present with untreated Hemochromatosis may develop liver damage which if unchecked, can lead to advanced liver disease. If left untreated heart disease or diabetes may also occur. Most patients with hemochromatosis who are treated early have a normal life expectancy.
Additional Resources: American Liver Foundation http://www.liverfoundation.org
