What is hemochromatosis?
Hemochromatosis is a disorder in which the body stores too much iron. Iron is an important nutrient that helps the hemoglobin in blood cells carry oxygen to your body’s organs and tissues. Your intestines absorb the iron your body needs from the food you eat.
If you have hemochromatosis, your body absorbs more iron than it uses. The body has no way to remove the extra iron, so it stores it in the joints and organs -- especially the liver, heart, and pancreas. The organs cannot manage the overload of iron, and so they can be damaged and may eventually fail.
What causes hemochromatosis?
Hemochromatosis is a hereditary disorder, which means it is passed down from parents to children through their genes. Hemochromatosis is mainly caused by a defect in the HFE gene. It is also known as primary hemochromatosis.
Some people get a copy of the HFE gene defect from just one parent. They are called "carriers" because they carry the defective gene and can pass it on to their children. Carriers usually do not get sick. People who get the HFE gene defect from both parents have a greater chance of getting the disease.
There are other types of hemochromatosis that are not caused by the HFE gene defect -- including secondary, juvenile, and neonatal hemochromatosis – but they are less common than the primary form. Secondary hemochromatosis can be caused by disorders such as thalassemia, anemia, chronic alcoholism, and other conditions. Juvenile and neonatal hemochromatosis are caused by other types of gene defects.
Who gets hemochromatosis?
Hemochromatosis is more common in men and in Caucasians, especially those of Northern European descent, although it can affect other ethnic groups. Symptoms of hemochromatosis usually appear in men between the ages of 30 and 50. Symptoms often do not appear in women until after age 50 or after menopause, most likely because women lose iron from the blood loss of menstruation and childbirth. There is a greater risk of getting hemochromatosis if someone in the family has had it.
How common is hemochromatosis?
Hemochromatosis is one of the most common hereditary disorders in the United States. Approximately one of every 8 to 12 Caucasians in America is a carrier, with one copy of the gene defect, and about five of every 1,000 have two copies of the HFE defect, which puts them at risk for developing the disease. It is also estimated that about half of those with two copies of the HFE defect will eventually develop the disease.
What are the symptoms of hemochromatosis?
In the early stages, hemochromatosis may not have any noticeable symptoms. When symptoms do appear, the most common are chronic fatigue (feeling very tired) and joint pain. Some people with hemochromatosis have pain in their knuckles. This is called the "iron fist," and it can be a clue that a person has the disease. Other symptoms of hemochromatosis include:
- Lack of energy
- Abdominal (belly) pain
- Loss of sex drive
- Loss of body hair
- Heart flutters
- Memory fog
- Weight loss
- Abnormal coloring of the skin (gray or bronze)
How is hemochromatosis diagnosed?
Hemochromatosis often goes undiagnosed because its symptoms are similar to those of many other disorders. Often, hemochromatosis is suspected when high iron levels are found on routine blood tests.
To make a diagnosis of hemochromatosis, the doctor will use the following:
- History and physical examination—The doctor will begin with a complete history and physical exam. During the physical exam, the doctor can see any changes in skin color and detect swelling of the liver and spleen. The doctor will also ask about any family history of hemochromatosis or unexplained liver disease.
- Blood tests — The doctor will order a series of blood tests to measure the amount of iron in the body. The tests will also help rule out other disorders as the cause of the symptoms.
If these tests show higher-than-normal levels of iron in the body, a special blood test can be used that looks for the HFE gene defect. This will confirm that the patient has hemochromatosis. (Genetic testing can also be used as a screening tool to detect the disease before it damages the organs.)
A liver biopsy may be needed if the blood tests show a high level of iron in the blood. During a liver biopsy, a small piece of liver tissue is removed with a fine needle. The tissue is examined under a microscope. The biopsy can show the level of iron in the liver and the extent of liver damage.
How is hemochromatosis treated?
The treatment for hemochromatosis is a simple process called phlebotomy. In phlebotomy, blood is drawn from the veins in the arm --similar to donating blood at a blood bank. Removing blood removes the extra iron it contains.
Treatment depends on the person and his or her iron levels. Usually, a pint of blood is drawn once or twice a week until the iron levels are within the normal range. This process can take months.
Once the iron levels are stable, the person begins maintenance therapy, which involves drawing blood about every two to four months for the rest of the patient’s life. The patient will have yearly blood tests to determine how often blood needs to be drawn.
People with hemochromatosis should also reduce the amount of iron they get from their diet. They should avoid iron-fortified processed foods, iron pills, and vitamins and supplements that contain iron. They should also avoid raw seafood and alcohol.
What are the complications of hemochromatosis?
If hemochromatosis is not found early and treated, it can affect vital organs and lead to serious complications, including:
- Enlarged liver
- Cirrhosis (scarring of the liver)
- Liver cancer
- Liver failure
- Diabetes (from damage to the pancreas)
- Irregular heartbeat
- Enlarged heart
- Congestive heart failure
- Early menopause
- Damage to adrenal glands
- Enlarged spleen
What is the outlook for people with hemochromatosis?
Hemochromatosis is a lifelong but very treatable disease. When it is diagnosed early and treatment begins before organ damage has started, a person can live a normal, healthy life without complications.
The outlook for those who already have organ damage depends on how much damage there is. In some cases, organ damage can be stopped and even reversed if it is caught in its early stages. In other cases, such as cirrhosis, damage is permanent and the risk of organ failure remains.
When should I call my health care provider?
Call your health care provider if you have symptoms of hemochromatosis or if you are at risk and would like to be tested for the HFE gene defect.
Can hemochromatosis be prevented?
Hemochromatosis cannot be prevented. However, if someone in your family has had hemochromatosis, you can be screened for the HFE gene defect.This way, treatment can be started before any organ damage can occur.
- National Digestive Diseases Information Clearinghouse. Hemochromatosis. digestive.niddk.nih.gov Accessed January 16, 2012.
- UpToDate. Clinical manifestations of hereditary hemochromatosis. www.uptodate.com Accessed January 16, 2012.
- UpToDate. Treatment of hereditary hemochromatosis. www.uptodate.com Accessed January 16, 2012.
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