Hereditary hemochromatosis is an inherited disorder characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various organs. It typically begins to become clinically apparent in the third to fifth decades of life. The most common gastrointestinal presentation is an unexplained elevation in blood liver enzymes. Because of the severe sequelae of this disorder if left untreated, early diagnosis before symptoms or signs appear is important.
Organs commonly affected by hemochromatosis are the liver, heart, and endocrine glands. Manifestations of the disease may include cirrhosis of the liver, diabetes, heart failure, arthritis and tanning of the skin. In its early stages the disease may have no symptoms and only be suspected on the basis of abnormal blood tests.
The diagnosis is made by measuring iron levels in the blood. A blood test can also be performed to identify the genetic abnormality which is associated with the disease. A liver biopsy may be necessary to confirm the diagnosis and determine the extent of damage that has been done to the liver. Family members of patients diagnosed with hemochromatosis should be advised to be screened genetically to determine if they are a carrier or if they could develop the disease. This can allow preventative measures to be taken.
Treatment consists of removing iron from the body by regularly scheduled phlebotomies, the removal of blood from the body. When first diagnosed, the phlebotomies may be fairly frequent, perhaps as often as once a week, until iron levels can be brought to within normal range. Once iron and other markers are within the normal range, phlebotomies may be scheduled every other month or every three months. Patients with hemochromatosis are at increased risk for developing liver cancer and should be monitored closely for this condition.