Hemochromatosis is a common inherited disorder in which the body is unable to break down iron, resulting in too much iron building up in the body. The extra iron is stored in tissues and organs, primarily the joints, skin, liver, heart and pancreas. Untreated, the accumulation of iron - also called "iron overload" - can cause organ failure. Another form of hemochromatosis, called secondary or non-hereditary hemochromatosis, is the result of other factors such as alcoholism or anemia. Newborns and juveniles also may develop hemochromatosis. Virginia Mason hepatologists specialize in treating patients with this disorder. To schedule an appointment with Virginia Mason's Liver Center specialists, call (206) 223-2319.
Most signs and symptoms associated with hemochromatosis do not appear until middle age, between the ages of 30 and 50, and the onset of symptoms differs between men and women. Signs and symptoms usually appear later in middle age in women, for example, during menopause when the body is no longer losing iron from menstruation or pregnancy.
For most patients, the most common symptom is joint pain from the build up of iron in the body. Because extra iron is stored primarily in the joints, skin, liver, heart and pancreas, signs and symptoms are commonly associated with these tissues and organs, and can be life threatening. They include:
- Abdominal pain
- Irregular menstruation
- Abnormal liver values (liver function tests)
- Arrhythmia (abnormal heart beats)
- High blood glucose levels
- Skin color changes (bronze or gray) from excess iron
- Cirrhosis of the liver
- Liver cancer
- Congestive heart failure
You are at a higher risk of inheriting hemochromatosis if you have a family member with the disorder or if you carry two copies of a mutated gene, called the HFE gene. This gene controls the amount of iron your body absorbs from food. The mutated form of the gene is C282Y. Most individuals with hemochromatosis have two copies of C282Y, one from each parent. Inheriting just one mutated gene means that you are a carrier.
Hemochromatosis can be difficult to diagnose because the signs and symptoms mimic many other disorders. To begin, your hepatologist will perform a medical history and a physical exam, and will listen to a description of your symptoms. He or she also will have you undergo a number of tests and procedures to help in the diagnosis, including the following:
- BLOOD TESTS
Several tests may be run to determine the amount of iron in your blood.
- GENETIC TESTING
If you have a family history of hemochromatosis or if your hepatologist suspects this disorder, he or she may recommend genetic testing, which is performed by a blood test for mutations of the HFE gene.
- LIVER BIOPSY
This test definitively confirms a diagnosis of hemochromatosis. It is performed by injecting a thin needle through your abdominal skin (percutaneously) and into the liver to remove a small sample of liver tissue. The area of the puncture is numbed first with a local anesthetic.
Your hepatologist may recommend one or more therapies for treating hemochromatosis, including dietary changes, medical therapy and phlebotomy, which is the therapeutic removal of blood from the body.
- DIETARY CHANGES
Your hepatologist and/or a dietitian will recommend that you stop drinking alcoholic beverages, which can damage the liver, and avoid foods and vitamin supplements with high levels of iron. Supplemental vitamin C helps the body absorb iron and should be avoided, although fruits and vegetables with vitamin C should continue to be eaten. Recipes with reduced amounts of iron are available in cookbooks.
- MEDICAL THERAPY
Medications may be prescribed that remove iron from the body, but the most effective treatment is phlebotomy.
- THERAPEUTIC PHLEBOTOMY (BLOOD REMOVAL)
A common treatment for hemochromatosis is to remove blood from the body, which reduces the amount of iron circulating in the bloodstream. This procedure is not unlike a blood donation and takes about 20 minutes. It is performed in your doctor's office and requires a prescription. The amount of blood drawn and the number of times you will have this procedure will depend on the levels of iron in your system and your general health. Patients diagnosed with hemochromatosis can expect to have regular phlebotomy procedures as part of their therapy.