“My doctor told me that my blood iron levels are high. I am a 45 year-old father of two young boys. I feel fine and am healthy. Do I need to be concerned?”
This is a very common reason why people visit either a liver or blood specialist for a consultation. There are many causes of high blood iron levels including previous blood transfusions, alcohol use, certain hematologic disorders such as thalassemia, and hereditary hemochromatosis. Of these disorders, hereditary hemochromatosis is the most common and worrisome.
Hereditary hemochromatosis is a genetic disorder which leads to increased absorption of iron by the small intestine. Normally, the body has a regulatory mechanism by which only a fixed amount of iron will be absorbed. In hereditary hemochromatosis, this regulatory mechanism is disrupted and there is no control on the amount of iron absorbed. The absorbed iron is transferred and deposited in several organs such as the liver, heart, pancreas, skin and joints. The increase in iron stores can lead to problems such as cirrhosis, diabetes, heart disease, bronze skin and joint pains.
Most patients with hereditary hemochromatosis do not know they have it. Occasionally, young people may first be diagnosed with hereditary hemochromatosis after having an irregular heart beat. This may occur particularly after taking vitamin C, which leads to increases the amount of iron absorbed by the small intestine.
Most people with this disorder have no symptoms until they reach their 40s or 50s as the accumulation of iron in the tissues is a life-long process. When symptoms occur, the most common ones are fatigue, impotence, joint pains or symptoms related to new-onset diabetes. Many people with hereditary hemochromatosis will develop cirrhosis and 30 percent will develop liver cancer, which is the most common cause of death in these patients.
Hereditary hemochromatosis is the most common inherited autosomal recessive liver disease in Caucasian populations but can be found in all peoples. About one in ten people are carriers of the gene causing this disease and one in 300 people have the disease. The diagnosis of hemochromatosis is made through a combination of serum iron and ferritin levels, genetic testing, MRI findings and /or liver biopsy with specific testing of the hepatic iron index.
The treatment of hemochromatosis is phlebotomy or removal of blood until iron and ferritin levels normalize. Once levels normalize, phlebotomy is usually performed three to four times a year in order to maintain normal levels. For those patients unable to undergo phlebotomy because of heart disease, anemia or poor venous access, oral iron chelation therapy is available. If treatments are initiated before cirrhosis appears or heart disease occurs, all potential long-term complications of this disease can be prevented.
The key to treatment of this disease is to catch it early. It’s important that all people be screened for this condition with iron studies. Once someone is diagnosed with hemochromatosis, it is important to screen immediate family for its presence. This is a hereditary disease so if one member of the family has it, it’s likely that other members have it is as well.