HEREDITARY HAEMOCHROMATOSIS

HEREDITARY HAEMOCHROMATOSIS

Haemochromatosis is a condition that causes your body to absorb and store too much iron. When your body has too much iron, it’s called “iron overload.” Iron overload can damage your tissues and organs, especially your liver, heart and pancreas.

The signs and symptoms of hereditary haemochromatosis are different from person to person. Men are more likely to have symptoms than women. Although you are born with it, most people who have hereditary haemochromatosis show no symptoms of the illness until they are middle-aged. Symptoms can also change depending on the amount of iron in your diet or if you are taking iron pills or drinking alcohol.

Early symptoms include fatigue, abdominal pain, joint pain or impotence. For women, abnormal periods or early menopause also can be a sign.

People who have a very high iron levels may have skin with a bronze or grey colour. Their lab tests may be abnormal. Their livers may get bigger or may become damaged and they may develop cirrhosis — permanent and extensive scarring in the liver. Other signs of hereditary haemochromatosis include diabetes and heart problems.

There are 2 kinds of haemochromatosis:

Primary haemochromatosis (also called “hereditary” hemochromatosis) is the most common type of haemochromatosis. Hereditary means that it runs in the family and you are born with it. This type of haemochromatosis occurs when a child inherits a mutated HFE gene from his or her parents. This mutated gene makes your body store too much iron.

Secondary haemochromatosis (also called “acquired” haemochromatosis) can show up in people who have been taking iron pills for more than 10 years or in people who have to get many blood transfusions. People who have certain kinds of anaemia or liver disease may also have secondary haemochromatosis.

Everyone with a relative with hereditary haemochromatosis should have blood tests to see if they also have it. All people with medical conditions that could be caused by hereditary haemochromatosis should be checked for iron overload. Even if your lab results are normal, you might need to get blood tests again every few years if you have some of the signs of hereditary haemochromatosis or a relative with it.

Adult relatives of a person with hereditary haemochromatosis might consider having a special test to look for an abnormal HFE gene. This test would tell their doctor if they might also have hereditary haemochromatosis.

Hereditary haemochromatosis can be difficult to diagnose because many other conditions also can cause the early symptoms of the disease. Your doctor will ask you about your symptoms, do a physical exam and order blood tests to determine the amount of iron in your blood and the amount of iron stored in your liver. If your blood tests are not normal, your doctor might also do a test to look for an HFE gene.

Even if you are healthy, be sure to tell your doctor if you have a parent or sibling who has haemochromatosis. In some cases, your doctor may recommend that you consider having a special genetic test. This test will tell you whether you have hereditary haemochromatosis before you experience any of the signs or symptoms.

Your doctor should explain to you the benefits and risks of genetic testing, because you could have problems with your job or getting insurance if you have the HFE gene. That is why HFE gene testing usually is not recommended for children younger than 18 years of age.

The goal of the treatment is to lower the level of iron in your blood back to normal. Usually, this is done by removing blood from your body (called phlebotomy ) on a regular basis. It’s just like donating blood. Your doctor will tell you how often you need to have your blood removed (usually once or twice a week until your iron levels are normal, then less often).If you have hereditary haemochromatosis, you can do some things to help:

  • Don’t take iron supplements, not even vitamins with iron in them.
  • Don’t take vitamin C supplements.
  • Don’t eat very much red meat.
  • Don’t drink very much alcohol. You might give up all alcohol. Too much iron plus alcohol can make liver disease worse. Ask your doctor if you can drink alcohol and how much is OK for you to drink.
  • Don’t eat raw shellfish. Don’t even touch raw shellfish, because you have an increased risk of bacterial infection.

With early diagnosis and treatment, nearly all the long-term problems of hereditary haemochromatosis can be prevented. If the illness is diagnosed and treated before you get cirrhosis or diabetes, your life expectancy should be normal.

If you have hereditary haemochromatosis, you might need to have a liver biopsy to see if your liver is damaged. For the biopsy, a doctor removes a small piece of your liver and looks at it under a microscope. If you have cirrhosis, you have a higher risk for getting liver cancer. A few people who have cirrhosis may get bad enough to need to have a liver transplant.

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