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:
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:
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.