What is Haemochromatosis?

Haemochromatosis is one of the most common inherited genetic conditions, in which the body absorbs too much iron from food, or supplements, leading to a build-up of iron. It can often be overlooked and go underdiagnosed and may not show up until later in life. It affects one in 300 Australians of Caucasian descent and can be as high as 1 in 227 individuals in the general population. In the US it affects around 1 million. Approximately 10 percent of the Caucasian population is estimated to be a “carrier” for classic hereditary hemochromatosis (i.e., has one mutation of the HFE gene).

Haemochromatosis symptoms

Haemochromatosis symptoms usually develop between the ages of 30 and 60 years. They can show up earlier though. When symptoms do arise they are often similar to symptoms of many other conditions. This makes it difficult to diagnose and why this genetic condition does get overlooked

Common symptoms include:

  • extreme tiredness;
  • weight loss;
  • joint pains; and
  • abdominal pain or discomfort.

Complications resulting from haemochromatosis and the effects of excess iron being deposited in various tissues of the body may include:

  • Skin: the skin can have a bronzed or tanned colour.
  • Joints: arthritis, which commonly affects the finger joints, can cause pain and stiffness.
  • Liver: cirrhosis, or scarring, of the liver.
  • Pancreas: if the pancreas is affected, diabetes may develop.
  • Heart: heart failure and heart rhythm problems can result from heart muscle damage when iron is deposited in the heart.
  • Reproductive organs: iron overload may affect ovarian tissue in women causing irregular periods, loss of libido (sex drive) or early menopause. In men, iron deposition can affect the testes, resulting in low sex drive, erectile dysfunction (impotence) and breast enlargement.

The signs of excess iron and Haemochromatosis are usually harder to diagnosis in women. Women usually develop symptoms later than men because they lose some iron every month when menstruating, and so iron does not build up as quickly.

Complications

Without treatment, the slow build-up of iron in various parts of the body, including the liver, heart and pancreas, can eventually cause permanently damage.

Diagnosis

Your healthcare practitioner, or specialist, will ask about your symptoms and family history, and perform a physical examination.

When haemochromatosis is suspected, your doctor will recommend you have blood tests to measure the iron levels in your body (such as transferrin saturation and ferritin levels). If these tests are abnormal, genetic testing may be done to make the diagnosis. If you have a family member with this condition, you should be screened anyway.

Sometimes special scans are used to detect the amount of iron in the liver. On rare occasions a tiny sample (biopsy) of the liver is recommended to determine whether iron overload has caused liver damage.

What is the treatment for haemochromatosis?

Treatment involves having regular venesection done. This means having blood taken out of the body, just like being a blood donor. When this is done the body’s response is to make extra blood, using up some of the stored iron. This needs to be done at specialised labs, not just a blood donation facility. Unfortunately, the blood from the venesection of someone with haemochromatosis is not kept, or used for donation, and needs to be thrown away.

When haemochromatosis is first diagnosed it may be necessary to remove about half a litre of blood every week for up to 2 years. Once the excess iron has gone, blood is removed 3 or 4 times a year to maintain iron at normal levels.

Treatment with venesection can help improve symptoms and stop any further organ damage. When treatment is started early, organ damage can be prevented.

Treatment and monitoring are lifelong.

Self-care

Recommendations for self-care may include:

  • limiting the amount of iron in your diet and not taking iron supplements;
  • avoiding supplements that contain iron or vitamin C (which increases the absorption of iron); and
  • limiting alcohol (drinking with meals may increase iron absorption).

People who have liver damage or cirrhosis of the liver should avoid drinking alcohol altogether.

Screening

Because haemochromatosis is an inherited (genetic) disease, anyone with a close relative who is affected should have genetic testing. If both your parents are carriers, there is a high likelihood you may have the full blown genetic condition. This is very important to know, because early diagnosis and treatment can prevent permanent organ damage. As said before, many people are unaware they have this condition until later in their life. Some people may never find out until it has caused major organ damage.

 

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