Haemochromatosis

Haemochromatosis is an inherited disorder in which iron levels in the body slowly build up over many years.

Introduction

Haemochromatosis is an inherited disorder in which iron levels in the body slowly build up over many years.

The excess levels of iron can then trigger symptoms such as:

Read more about symptoms of haemochromatosis.

What causes haemochromatosis?

Haemochromatosis is caused by an inherited faulty gene that allows a person to absorb excess amounts of iron from food. Normally, the body absorbs as much as it needs.

Over time people with haemochromatosis absorb and accumulate too much iron in their body, which has a harmful effect on many of its processes.

Read more about the causes of haemochromatosis.

Complications

If haemochromatosis is left untreated, the extra iron is deposited in the body, usually around organs, such as the heart and liver.

This can lead to potentially serious complications such as:

Read more about complications of haemochromatosis.

Treatment

Haemochromatosis responds well to treatment.

Treatment aims to remove excess iron from the body. A type of treatment known as phlebotomy is usually used.

During a phlebotomy a small amount of blood is removed in a process similar to a blood donation. Removing blood from the body on a regular basis will lead to a corresponding drop in iron levels.

For people unable to use phlebotomy for medical reasons, a medication called deferasirox can be used as an alternative.

Read more about treating haemochromatosis.

Screening

However, if a close family member (a parent, brother or sister) is diagnosed with haemochromatosis you may want to consider getting tested for the condition yourself. Initial screening is done by blood test.

Read more about diagnosing haemochromatosis.

Living with haemochromatosis

Most people will be able to keep their haemochromatosis symptoms under control, but there are steps that can be taken to keep iron levels low and prevent complications.

These include:

  • reducing consumption of red meat
  • limiting the consumption of alcohol – as well as containing iron, alcohol can damage the liver, which could be dangerous in people with pre-existing liver disease

Read more about living with haemochromatosis.

Who is affected

Haemochromatosis is uncommon in general terms.

As many as one person in 200 may be affected.

Symptoms usually start around the age of 40 in men and after the age of 50 in women. Symptoms in women are delayed because their iron levels are reduced when they have a period.

Haemochromatosis is most common in people of white European ethnic background – particularly people of Irish descent.

Symptoms

Symptoms of haemochromatosis usually begin around the age of 40 in men and 50 in women, although they can sometimes occur much earlier in life.

Initial symptoms of haemochromatosis include:

As the condition progresses it can trigger additional symptoms such as:

  • loss of libido (sex drive) – both men and women can be affected
  • a change in skin colour such as looking bronzed or tanned
  • enlargement of the liver which may be noticeable to the touch – in turn this can cause abdominal pain and yellowing of your eyes and skin (jaundice)
  • a build-up of sugar in the blood (diabetes) which can cause symptoms such as feeling thirsty all the time, frequent passing of urine and weight loss
  • severe pain and stiffness in your joints – finger joints are the most commonly affected
  • partial loss of body hair – pubic hair is most commonly affected
  • damage to the muscles of your heart (cardiomyopathy) which can cause chest pain, shortness of breath and swelling of your hands and feet

Causes

Normally, the body maintains a steady level of iron. The iron is absorbed from food and the amount absorbed varies according to the body's need for it.

People with haemochromatosis cannot control levels of iron in their bodies in this way. As a result, iron builds up over time and is usually deposited in the liver, pancreas, joints, heart or endocrine glands.

A faulty gene called HFE causes haemochromatosis. Everyone receives two sets of genes – one from their father and one from their mother. If a person receives a set that includes the mutated HFE gene, they will not develop symptoms but they will be a carrier of the HFE mutated gene. In some ethnic groups, such as people of Irish descent, as many as one in 10 may be a carrier of the HFE mutation.

If a carrier of the mutation has a baby with a fellow carrier there is a significant chance the baby will receive two sets of mutated genes and develop haemochromatosis.

The likelihood of the child being affected is as follows:

  • there is a one in four chance that the baby will receive a pair of normal HFE genes and be unaffected
  • there is a one in two chance that the baby will receive one normal HFE gene and one mutated HFE gene – this means they will not have haemochromatosis but they will be a carrier of the condition
  • there is a one in four chance that the baby will receive a pair of mutated HFE genes – this means they will develop haemochromatosis later in life

Diagnosis

It can be difficult to diagnose haemochromatosis as many of the typical symptoms can also result from other conditions.

In most cases, unless you have a family history of the condition, it may take a while before a correct diagnosis is confirmed. If you do have a family history of haemochromatosis it is important to tell your doctor.

In many cases haemochromatosis is diagnosed during testing for unrelated conditions.

Blood tests

Haemochromatosis is usually diagnosed using blood tests, which may include:

  • transferrin saturation (TS) – a blood test that indicates how much iron is readily available for use in the body
  • serum ferritin (SF) – a blood test that indicates the amount of iron stored in the body

If tests do detect high levels of iron in your body you will be referred for a more detailed blood test where a sample of your DNA is checked for the HFE mutation. This genetic test will usually confirm the diagnosis.

Liver biopsy

A liver biopsy may be recommended if tests reveal high levels of iron or there are enzymes present that indicate liver damage.

A liver biopsy involves taking a small sample of liver tissue. A hollow needle is injected into your skin and then into your liver and a sample of the tissue is taken. The injection is not painful as the skin is numbed with a local anaesthetic.

The sample is then checked to see if the tissue is hardened, scarred or has cancer cells in it – all of which would indicate some degree of liver disease.

Treatment

The most widely used treatment for haemochromatosis is called phlebotomy.

Phlebotomy involves removing iron-rich blood from the body in a similar way to blood donation.

The amount removed is roughly the same as the amount removed in a blood donation – around 500ml (just under a pint).

There are two stages in phlebotomy therapy:

  • induction – where blood is removed on a frequent basis (usually weekly) until your iron levels are normal (this can sometimes take up to a year)
  • maintenance – where blood is removed on a less frequent basis (usually every two to four months) to keep your iron levels under control

Chelation therapy

There may be some circumstances in which you are unable to be treated with phlebotomy for medical reasons, for example if you have:

  • heart disease
  • anaemia (lack of red blood cells)
  • unusually thin or fragile veins that make it difficult to remove your blood

If this is the case, an alternative treatment involves taking medication to help remove iron from your blood. This is known as chelation therapy.

Deferasirox is a medication increasingly used during chelation therapy. It works by locking on to or binding the iron molecules in the body, before releasing them through urine or stools. Deferasirox is available in tablet form and most people need to take one tablet a day.

Side effects of deferasirox include:

These side effects should pass once your body gets used to the effects of the medication.

Deferasirox is unlicensed for the treatment of haemochromatosis. This means deferasirox has not undergone clinical trials (a type of research that tests one treatment against another) to determine whether it is effective and safe to treat the condition.

However, some experts will use an unlicensed medication if they think it is likely to be effective and the benefits of treatment outweigh any associated risk. This is thought to be the case with deferasirox.

If your specialist is considering prescribing an unlicensed medication to treat haemochromatosis, they should tell you it is unlicensed and discuss possible risks and benefits with you.

Complications

A prompt diagnosis of haemochromatosis should prevent complications occurring. But the condition can be hard to diagnose so complications can sometimes occur.

Some of the more serious complications of haemochromatosis are outlined below.

Heart failure

If excess iron is allowed to build up in and around the heart it can damage the muscles of the heart (cardiomyopathy).

This can lead to heart failure, which is when your heart has become so damaged it struggles to pump enough blood to meet the demands of the body.

Symptoms of heart failure include:

  • breathlessness (dyspnoea) when you're more active than usual or sometimes when you're resting
  • extreme tiredness and weakness
  • swelling in the legs, ankles and feet (oedema)

Heart failure can be treated using a combination of:

  • lifestyle changes, such as becoming more physically active to strengthen your heart
  • medications such as beta-blockers, which slow your heart rate reducing the strain on your heart

Read more about the treatment of heart failure.

Arthritis

In more severe and advanced cases of haemochromatosis permanent damage, stiffness and inflammation (swelling) can occur in one or more of your joints. This is known as arthritis.

In some cases it may be possible to relieve symptoms of arthritis with medication such as the non-steroidal anti-inflammatory drugs](yourmd:/condition/anti-inflammatories-non-steroidal/introduction) (NSAIDs) type of painkillers and [corticosteroids (steroid medication).

In more severe cases where significant damage has occurred it may be necessary to replace the damaged joint with an artificial one, such as a hip replacement or knee replacement.

Liver disease

The liver can be very sensitive to the effects of iron and many people with haemochromatosis will have some degree of liver damage.

The liver is a relatively tough and resilient organ so you may experience no noticeable symptoms even if your liver has become damaged. If testing does show that this is the case you may be told to avoid drinking alcohol as a precaution.

If significant scarring of the liver (cirrhosis) occurs you may experience symptoms such as:

  • tiredness and weakness
  • loss of appetite
  • weight loss
  • feeling sick
  • very itchy skin
  • tenderness or pain around the liver
  • yellowing of the eyes and skin (jaundice)

More severe symptoms of advanced cirrhosis include vomiting blood and passing out bloody stools (poo) – both of which are caused by internal bleeding.

Surgery and medication can be used to relieve the symptoms of cirrhosis. But the only way to achieve a complete cure is to have a liver transplant.

But not everyone is suitable for a liver transplant and the demand for transplanted livers is far higher than the supply, so there is often a long waiting time for a transplant to become available.

Cirrhosis also increases your risk of developing liver cancer. Treatment options for liver cancer include chemotherapy, radiotherapy and removing a section of the liver.

In a small number of cases it may be possible to treat liver cancer with a liver transplant.

Prevention

If you have the haemochromatosis gene, there is little you can do to prevent iron build-up. However, there are steps you can take to minimise your intake of iron:

  • reduce your consumption of red meat (such as beef and lamb) and avoid organ meat (such as liver, kidney and heart) – iron is much more readily absorbed from meat than from vegetables, cereals and beans
  • avoid taking iron supplements and eating foods fortified with iron, such as breakfast cereals
  • reduce the amount of vitamin C you consume, as this increases absorption of iron and helps it deposit in some organs
  • avoid drinking too much alcohol, especially with meals, as this can increase iron absorption and cause liver disease – if you do have some degree of liver disease you may be advised to avoid alcohol completely
  • consume tea and dairy products with a meal to reduce the amount of iron absorbed
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