Causes

Hemochromatosis occurs when too much iron builds up in the body.

There are two forms of hemochromatosis: primary and secondary.

Primary hemochromatosis is usually caused by a specific genetic problem that causes too much iron to be absorbed. When people with this condition have too much iron in their diet, the extra iron is absorbed in the gastrointestinal tract and builds up in the body tissues, particularly the liver. The result is liver swelling. Primary hemochromatosis is the most common genetic disorder in the United States, affecting an estimated 1 of every 200 to 300 Americans.

Secondary or acquired hemochromatosis can be caused by diseases such as thalassemia or sideroblastic anemia, especially if the person has received a large number of blood transfusions. Occasionally, it may be seen with hemolytic anemia, chronic alcoholism, and other conditions.

Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. You have a higher risk of hemochromatosis if someone else in your family has or had the condition.

Symptoms

• Abdominal pain
• Fatigue
• Generalized darkening of skin color (often referred to as bronzing)
• Joint pain
• Lack of energy
• Loss of body hair
• Loss of sexual desire
• Weight loss
• Weakness

Exams and Tests

A physical examination shows liver and spleen swelling, and skin color changes.

Blood tests may help make the diagnosis. Tests may include:

• Serum ferritin (high)
• Serum iron (high)
• Percentage of transferrin saturation (high)

Other tests may include:

• Blood sugar (glucose) level
• Alpha fetoprotein
• Echocardiogram to examine the heart's function
• Electrocardiogram (ECG) to look at the electrical activity of the heart
• Imaging tests such as CT scans, MRI, and ultrasound
• Liver function tests

The condition may be confirmed and treated with a liver biopsy or phlebotomy, a procedure that removes blood to lower the amount of iron in the body.

Recently, genetic defects have been found in many families with a history of hemochromatosis. Blood tests can be used to look for these genetic changes and confirm the diagnosis of hemochromatosis, as well as determine who may be at high risk of developing the disease.

Treatment

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. One-half liter of blood is removed from the body each week until the body iron level is normal. This may require many months or even years to accomplish. After that, less frequent phlebotomy is needed to maintain normal iron levels. How often you need this procedure depends on your symptoms and your levels of hemoglobin and serum ferritin, and how much iron you take in your diet.

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 diet. The diet prohibits alcohol, especially for patients who have liver damage. You will also be told to avoid iron pills or vitamins containing iron, vitamin supplements, iron cookware, raw seafood (cooked is fine), or fortified processed foods such as 100% iron breakfast cereals.

Outlook (Prognosis)

Over time, liver scarring and damage can occur. Extra iron may also build up in other body tissues such as the thyroid, testicles, pancreas, pituitary gland, heart, or joints. If treatment begins before any of these organs have been affected, diseases such as liver disease, heart disease, arthritis, and diabetes can usually be prevented.

How well a person does depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.

Possible Complications

Complications include:

• Liver failure
• Liver cancer

The disease may lead to the development of:

• Arthritis
• Diabetes
• Heart problems
• Increased risk for certain bacterial infections
• Liver cirrhosis
• Long-term abdominal pain
• Testicular atrophy
• Severe fatigue
• Skin coloring changes

When to Contact a Medical Professional

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.

Prevention

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.

References

Bacon BR. Iron overload (hemochromatosis) In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 231.

Update Date: 4/12/2012

Reviewed by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.