Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload.
There are two types of hemochromatosis:
Hemochromatosis affects more men than women. It is common in Caucasians of western European descent.
Symptoms may include any of the following:
The doctor or nurse will perform a physical exam. This may show liver and spleen swelling, and skin color changes.
Blood tests may help make the diagnosis. Tests may include:
Other tests may include:
The condition may be confirmed with a liver biopsy or phlebotomy.
If a genetic defect is confirmed, other blood tests can be used to find out if other family members are at risk of iron overload.
The goal of treatment is to remove excess iron from the body and treat any organ damage.
A procedure called phlebotomy is the best method for removing excess iron from the body:
How the procedure is needed depends on your symptoms and levels of hemoglobin and serum ferritin, and how much iron you take in your diet.
In men, testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics.
Diabetes, arthritis, liver failure, and heart failure should be treated as appropriate.
If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed from your digestive tract. Your doctor or nurse will recommend:
Untreated, iron overload can lead to liver damage.
Extra iron may also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes.
How well you do depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.
The disease may lead to the development of:
Call your health care provider if symptoms of hemochromatosis develop.
Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemochromatosis.
Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.
Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-343.
Bacon BR, Britton RS. Hemochromatosis. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease Pathophysiology/Diagnosis/Management. 9th ed. Philadelphia, Pa: Elsevier Saunders; 2010:chap 74.
Updated by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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