HEMOCHROMATOSIS:

Is an inherited condition that causes the body to absorb and store too much iron.

What is Hemochromatosis?

It is the most common inherited disorder in the United States. It is estimated that 1 in 10 persons carry one of the genes. 1 in 200 Ð 300 carry both genes and have the disease. Many cases go unnoticed because of the lack of knowledge on the part of the public and medical community alike. The most important factor in early diagnosis is recognition that the problem might exist, and screening for it. Early diagnosis and treatment can prevent all of the long-term complications from occurring.

Who is most likely to get hemochromatosis?

The HFE gene or the hemochromatosis gene was identified in 1996. It is inherited from both parents. In the past it was most often diagnosed in people who exhibited symptoms of the disease. Usually people between the ages of 40 and 60 years old. Women, through menstruation, pregnancy and breast-feeding lose iron and often develop symptoms later in life than men. Anyone who has a blood relative with hemochromatosis should be tested even if there are no symptoms.

What are the symptoms?

Many people have no symptoms, even in advanced cases. Typical symptoms we may see include:
Fatigue
Weakness
Abdominal pain
Pain in the Joints
Slightly elevated liver enzymes
Bronze or grayish discoloration of the skin
Impotence
Diabetes

Are there special tests for iron over load?

Blood tests for serum iron and either total iron binding capacity (TIBC) or transferring are good screening tests. The ratio of iron to transferring or TIBC is normally about 30%. Figures above 50% suggests iron overload, figures below 15% suggest iron deficiency and need further investigation. A good additional test is the serum ferritin level, which is elevated in hemochromatosis. If these tests are persistently high, a genetic test for the mutations in the HFE gene should be performed. Depending upon whether there is evidence of liver damage, then a liver biopsy should be done to determine the amount of iron stored in the liver and to assess the damage to the liver. Excess Iron is also frequently present in patients with alcoholic liver disease, nonalcoholic steatohepatitis, or chronic viral hepatitis. A liver biopsy is the only definitive way to determine if patients with these diseases also have iron overload.

How is hemochromatosis treated?

Phlebotomy treatments (the removal of blood) are performed where one to two pints of blood are removed each week until iron stores go down to a normal level. Iron is contained in the hemoglobin of red blood cells. It may take several months to several years to remove all excess iron. After the iron stores are reduced to normal, maintenance phlebotomy treatments should continue every 2 Ð 4 months for life to prevent re-accumulation of iron.

What is the outlook for patients?

Those who are treated early can look forward to a completely normal life. When the illness has advanced to the stage of cirrhosis, the situation is more serious. Liver cancer can occur in up to 30 % of these patients. Damage to the pancreas by the excess iron can result in diabetes mellitus. Damage to other organs may cause arthritis, loss of body hair, heart problems, loss of sex drive and impotence. In the latter stages of the disease, the patient can develop an enlarged liver (hepatomegaly), cirrhosis (scarring of the liver), and an enlargement of the spleen (splenomegaly).

What effect does alcohol have on Hemochromatosis?

Drinking alcoholic beverages should be avoided. Alcohol can accelerate liver damage in hemochromatosis.

Is there any relationship between diet and iron overload?

Hemochromatosis is unrelated to diet. It is rare for people to develop iron storage problems after taking large amounts of iron tonics and medications over a long period. However, no one should take iron supplements without a doctorÕs advice.

Liver transplantation and hemochromatosis

Patients who undergo liver transplantation for hemochromatosis generally have a one-year average survival rate of about 50%, which is about 30% lower than those transplanted for other reasons. This lower rate is believed to be caused by infections or cardiac complications. The survival rate is also lower for patients whose hemochromatosis is not diagnosed prior to liver transplantation for other reasons.

* adapted for the American Liver foundation.