HAEMOCHROMATOSIS

What is Haemochromatosis ?

Haemochromatosis is a disease in which the body's stores of iron gradually increase. Iron in the liver enlarges it and interferes with its function, causing tiredness, jaundice, and general ill health. In the heart, iron produces heart failure, with breathlessness and leg swelling. Involvement of the skin causes an unusual bronze coloration. If joints are affected, they become painful. Iron in the pancreas produces diabetes (non-insulin-dependent diabetes mellitus) with thirst and excessive passing of urine. Iron may also be deposited in hormone glands. This also produces tiredness, together with loss of sexual interest, and impotence. Because it is known to be a hereditary condition, family members may be screened for the disorder. They may have evidence of haemochromatosis on testing, but may have no symptoms whatsoever. There is now a blood test that can be used to identify those family members who are at risk. This test involves looking for the particular genetic pattern associated with the disease.

How does Haemochromatosis occur ?

People with this disorder lack the normal control mechanism that limits how much iron is absorbed from food. As a consequence excess iron is absorbed and deposited in the above organs where it produces a chronic inflammation. This can destroy the normal tissue of that organ.

Why does Haemochromatosis occur ?

The condition is usually hereditary. It is rare in women under the age of 50 because they have periods which leads to loss of some iron every month making an excessive build up unlikely. Some patients have excess iron from repeated transfusions but they do not have haemochromatosis.

Treatment Involved with Haemochromatosis

In order to confirm the high level of iron, blood tests are needed. Further tests are often necessary to find out which organs are affected. A liver biopsy may be needed. This involves the removal of a small piece of liver through a long needle inserted between the ribs. A local anaesthetic is used to prevent any pain. The liver biopsy may be carried out as an outpatient procedure or you may need to stay a night in hospital. The principle of treatment is to remove the iron overload from the body. This is done by venesection in exactly the same way as if you were a blood donor. A needle is inserted into a vein in the arm and allows the blood to flow off into a container. This is done weekly until the blood haemoglobin level falls. This may take up to 2 - 3 years. Blood may then be drawn about once every 3 months. This may continue lifelong. Iron can also be removed by using drugs which bind the iron and then excrete it. These chelating agents are sometimes given instead of using venesection but are often less effective. Depending upon the results of other tests, the other organ disorders may need treatment. Unfortunately, even though iron can be removed from the body, the damage to these organs usually remains.

During Treatment for Haemochromatosis

After venesections, patients who have haemochromatosis with symptoms due to organ damage may expect the liver to decrease in size and liver tests to improve or become normal. Skin colour should return to normal and diabetes may improve. Heart failure may improve, although some treatment is still usually required. Poor sexual function and joint pain usually do not improve and require ongoing treatment. If you were picked up from screening programmes you will notice no difference in your wellbeing. You will benefit from the prevention of later organ damage.

If Haemochromatosis is Left Untreated

The various organs of the body referred to above would gradually become more affected. This would cause worsening diabetes, heart failure, joint pains, jaundice and liver failure.

Effects on Family of Haemochromatosis

A blood test for iron levels is needed for all closely related family members. A liver biopsy may be needed if haemochromatosis is suspected.