Hemochromatosis

Definition

Hemochromatosis is a disorder that interferes with iron metabolism, which results in too much iron in the body.

Causes

Hemochromatosis occurs when too much iron builds up in the liver. This leads to liver enlargement. The disease may lead to the development of diabetes, skin coloring changes, heart problems, arthritis, testicular atrophy, cirrhosis of the liver, liver cancer, hypopituitarism, chronic abdominal pain, severe fatigue, and an increased risk of certain bacterial infections.

There are two forms of hemochromatosis: primary and secondary.

Primary hemochromatosis is caused by a problem with your genes or by receiving a large number of blood transfusions which boost your iron levels. 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

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

• Joint pain
• Fatigue
• Lack of energy
• Weight loss
• Generalized darkening of skin color (often referred to as bronzing)
• Abdominal pain
• Loss of sexual desire
• Testicular atrophy
• Loss of body hair
• Weakness
• Heart problems
• Symptoms related to the onset of diabetes

Exams and Tests

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

Blood tests may help make the diagnosis. These include:

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

The diagnosis may be confirmed 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 some 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.

Other tests may include liver function tests (LFT), CT scan, MRI, ultrasound, biphasic helical CAT scan, alpha fetoprotein, PIVKA-II, glucose, hepatitis screening, and ECG.

Treatment

The goal of treatment is to remove excess iron from the body and treat any organ damage.

Iron removal is done by phlebotomy (removal of blood). One-half liter of blood is removed from the body each week for 2 to 3 years until the iron level is reduced. 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. Phlebotomy is the most efficient method for removing excess iron from the body.

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.

If you are diagnosed with hemochromatosis you must follow a special diet so your iron levels do not increase. The diet prohibits alcohol, especially for patients who have suffered 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)

The earlier a diagnosis is made and treatment is received, the better. If treatment is started before any 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.

Efforts are underway to promote screening for hemochromatosis, so that diagnosis and treatment occurs earlier.

Possible Complications

• Liver failure
• Liver cancer

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.

Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:908-910.