Hereditary Hemochromatosis is a hereditary disease that causes a build-up if iron stores in the body, referred to as iron overload. Excess iron can then cause damage to the body's organs, such as the liver, pancreas, heart, and joints.
The main cause of Hereditary Hemochromatosis is a defect 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 develop hemochromatosis and have iron overload. Those who inherit from only one parent are considered carriers for the disease, but usually do not accumulate excess iron.
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. Symptoms of hemochromatosis may include joint pains, fatigue, abdominal pain, skin discoloration, impotence, or heart problems.
Hereditary Hemochromatosis is often suspected based on abnormal lab results found on routine blood tests. Further lab work may be done to measure iron stores. If these are elevated, then genetic testing is preformed to look for hemochromatosis. Liver biopsy may be preformed to confirm the diagnosis or determine the extent of damage to the liver.
Treatment is with phlebotomies, or donating blood once a week 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 and reduce the risk of organ damage.
Most patients with hemochromatosis who are treated early have a normal life expectancy. Some patients may present with liver damage or advanced liver disease. If left untreated you may develop heart disease or diabetes.