What is hemochromatosis?
Hemochromatosis is a disease characterized by iron overload. It affects many organs in the body including the liver, heart, pancreas, joints and skin. Iron is normally absorbed in the small intestine in proper amounts necessary for the body’s function. In patients with hemochromatosis, a genetic mutation affecting the small intestinal cells allows for excess absorption of iron. The excessive amount of iron eventually gets deposited in organs like the liver, where it causes damage. Hemochromatosis is one of the most common inherited diseases, affecting one out of every 300-400 people. The disease is often silent until irreparable damage has been done.
The gene is present in one out of every ten people. Not all people who have the gene will get the disease. One must inherit two abnormal gene copies, one from each parent, to get hemochromatosis. Due to the common nature of the abnormal gene, it is important that family members of patients with hemochromatosis be tested.
What are the symptoms of hemochromatosis?
Symptoms are often not detectable until damage to organs has been done. Most patients are between the ages of 40 and 60 when the diagnosis is made. Women can be older at diagnosis due to menstruation throughout their lives. The specific symptoms are based on the damaged organ – in the case of liver disease symptoms can include weakness, jaundice, easy bleeding, swelling of the legs or abdomen, or abdominal pain. Iron damage to other organs can cause congestive heart failure, diabetes, and arthritis.
How is a diagnosis made?
Early diagnosis is important to prevent further organ damage due to excess iron. When a family history of hemochromatosis exists, family members should be screened. The diagnosis of hemochromatosis can be suggested by laboratory tests such as iron levels and liver enzymes. Liver biopsy usually confirms the diagnosis. A genetic test to look for the most common genetic mutations associated with the disease is available and can be ordered by your physician.
What is the treatment?
Red blood cells are one of the richest sources of iron in the human body. In patients with hemochromatosis, blood is usually removed from the patient to lower the number of red blood cells, and thus lower the overall levels of iron. It may take multiple sessions of blood removal over several months to accomplish the proper iron levels. If excessive liver damage has occurred and caused cirrhosis, liver transplantation can be performed with great success. Alcohol seems to make progression of any liver disease faster in patients with hemochromatosis, thus it should be avoided. Iron supplements should be avoided, as should vitamin C supplements, since vitamin C helps to increase bowel absorption of iron. Consumption of iron rich foods like red meat are not prohibited, but excessive consumption should be avoided.
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