Hemochromatosis
Hemochromatosis is an excessive accumulation of iron in the body. It may result from hereditary or environmental factors. Excess iron in the body is stored in the organs, particularly the liver, heart and pancreas, resulting in a poisoning of their tissues. This can lead to cancer, heart arrhythmias, cirrhosis and other life-threatening conditions.
Types of Hemochromatosis
While there are many causes of hemochromatosis, they are classified into two basic categories.
Primary Hemochromatosis
Primary hemochromatosis is the result of a genetic defect. Patients with this condition absorb too much iron from the diet. Primary hemochromatosis is more common in people of Western European descent and more common in men than in women.
Secondary Hemochromatosis
Secondary, or non-hereditary, hemochromatosis may be the result of a certain type of anemia, alcoholic or non-alcoholic liver disease, blood transfusions, accidental or deliberate ingestion of iron supplements, and long-term kidney dialysis.
While many people may carry the genes that cause hemochromatosis, only a small percentage of them have the most severe form of hemochromatosis that causes tissue and organ damage.
Symptoms of Hemochromatosis
Symptoms of hemochromatosis, even when the disease has been present from birth, often do not surface until early middle age. Furthermore, many patients remain asymptomatic throughout their lives. Common symptoms of the disease may include the following:
- Fatigue and weakness
- Arthritic joint pain
- Sexual dysfunction
- Hair loss
- Osteopenia or osteoporosis
- Unusual darkening of the skin
- Abdominal pain
- Weight loss
- Cardiomyopathy
Women are more likely to present symptoms of hemochromatosis after menopause, when they have stopped eliminating iron through menstrual cycles or pregnancy.
Diagnosis of Hemochromatosis
As with most disorders, the first diagnostic test for hemochromatosis is a thorough medical and physical examination. Hair loss, dark skin tone, joint pain, irregular heart beats or an enlarged liver may be noted. If hemochromatosis is suspected, the physician may conduct the following tests to confirm diagnosis:
- Blood tests
- Liver function tests
- Liver biopsy
- MRI scan or CT scan
- Superconducting quantum interference device (SQUID)
If a patient is found to have an abnormally high level of iron, genetic testing may also be performed to determine whether or not the hemochromatosis is of genetic origin.
Treatment of Hemochromatosis
There are three major methods to lower the iron level in the body. Lifestyle changes are the easiest form of treatment, but may not be sufficient to control the disorder. Simple alterations in diet and ingestion of supplements may help lower the patient's iron level. These may include: avoiding iron supplements and multivitamins containing iron, avoiding vitamin C supplements which may increases absorption of iron, avoiding alcohol to decrease the risk of liver damage, and avoiding raw shellfish which may contain dangerous bacteria. Other forms of treatment include therapeutic phlebotomy (blood withdrawal) to reduce the quantity of iron in the body and chelation therapy which uses medication to cause the body to expel iron through the urine or stool. In rare cases, when the disease has reached a late stage without successful treatment, a liver transplant may be necessary to save the patient's life.
Hemochromatosis is usually responsive to treatment. Left untreated however, hemochromatosis may prove fatal. It may affect any system of the human body, including the cardiovascular, digestive or endocrine systems. In most cases, particularly if diagnosed in its early stages, hemochromatosis is highly treatable. Even if it is the result of a genetic defect, a patient's iron level can usually be kept under control with careful monitoring. It is possible, however, that permanent damage, such as joint damage, may have already occurred, in which case treatment will be ineffective.