Haemochromatosis: symptoms & diagnosis
What are the symptoms of haemochromatosis?
Although haemochromatosis is inherited, the build-up of iron in the body happens quite slowly and symptoms do not usually appear until a person is aged 30 or 40 years old. In women, this is commonly closer to 50 years. For many the lifetime build-up of iron is quite small and does not cause clinical problems. When symptoms do appear, they may include the following:
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tiredness, fatigue or lack of energy
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a feeling of weakness in your limbs
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pain in the joints, especially in the knuckles and in the joints of your first two fingers
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pain in your stomach or abdomen
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loss of libido (sex drive) and possibly
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impotence or early menopause
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evidence of liver damage from scarring (fibrosis) and cirrhosis
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cardiomyopathy (disease of the heart muscle)
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type 2 diabetes
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a yellowing or ‘bronzing’ of the skin
How is haemochromatosis diagnosed?
Doctors may investigate and rule out a range of other illnesses that share the same symptoms before haemochromatosis is suspected. Abnormal iron levels are often the only sign of haemochromatosis. Therefore, the most important tests for detecting iron levels in the blood are the transferrin saturation and serum ferritin tests.
Serum ferritin (SF)
Ferritin is the protein that stores iron in the tissues. Small amounts of ferritin are found in the blood serum and as the amount of iron in your body increases, so do the levels of ferritin in the serum.
Genetic testing
Genetic testing is a more recent development in haemochromatosis and is used to determine whether you have the HFE gene mutation. Doctors may use the test to identify the cause of high iron levels detected in the TS and SF tests. Genetic testing is positive in over 90% of people with iron overload
Liver function tests (LFTs)
If liver damage is suspected, liver function tests (LFTs) may also be used. These involve taking a sample of blood and looking at different properties of your blood to gain an idea of how much your liver is inflamed or damaged in its ability to work properly. In particular, doctors will be concerned to measure levels of the liver enzymes ALT and AST which are increased during liver inflammation (hepatitis).
Liver biopsy
The genetic test has reduced some of the need for liver biopsy to confirm haemochromatosis. However, if you have high serum ferritin (over 1000 mcg per litre) or signs of liver damage doctors may use a liver biopsy to confirm their diagnosis and to assess the severity of any liver fibrosis/cirrhosis.
During a liver biopsy a tiny piece of the liver is taken for study. To do this, a fine hollow needle is passed through the skin into the liver and a small sample of tissue is withdrawn.
As well as measuring liver damage, liver biopsy enables chemical analysis of the iron concentration in the tissue sample. This is useful when iron overload is suspected in people who do not have the ironloading genotype (the abnormal gene pairs likely to cause haemochromatosis).
Other tests
In addition to blood tests and liver biopsy it may be necessary for medical staff to use ‘imaging’ equipment to help them detect the presence of iron build-up in your body. This is most likely to be a MRI scan, although ultrasound technology is sometimes used to guide a liver biopsy.
Magnetic Resonant Imagery (MRI) is a special tube scanner used to provide a detailed view of the liver. It creates powerful magnetic fields by releasing radio frequency energy to act on water molecules in your body. A type of radio signal is returned and picked up by the MRI equipment. This is relayed to a computer that can generate very detailed cross-sectioned images (or ‘slices’) of your liver area.
Diagnostic technology has been developed specifically for iron-overloading disease. ‘Ferriscan’ is a procedure that has been developed to analyze the MRI scans themselves in order to measure iron
Treatment for haemochromatosis
Treatment of haemochromatosis is simply aimed at removing iron from your body. As the body has no natural method for getting rid of the extra iron, this is done by regular bleeding known as phlebotomy.
What happens after your first phlebotomy?
After your course of treatment you will need to have further phlebotomies two to four times a year for the rest of your life. Doctors will continue to monitor transferrin saturation and serum ferritin levels (ideally maintained at 50% and 50 mcg per litre respectively) to assess when phlebotomy may be required. This is known as ‘maintenance therapy’.
An enlarged liver may reduce in size but if cirrhosis has become advanced, improvement is unlikely. If you have cirrhosis, doctors may run blood tests and imaging tests at regular intervals (usually every six months). Having cirrhosis will put you at a much higher risk of developing hepatocellular carcinoma (HCC). If this occurs, a liver transplant may be required.
What else should I be aware of?
Further Information
Looking after yourself
In general people with haemochromatosis do not need specific dietary advice, although you may be cautioned to:
- Avoid taking supplements or multi-vitamins which contain iron
- Avoid taking supplements which contain vitamin C as this may increase iron absorption
- Keep alcohol intake to a minimum as this may also affect iron absorption and can accelerate liver damage.
Approximately 10% of people with haemochromatosis will develop cirrhosis and may need to follow specific diet advice. Read more about diet and cirrhosis here.
Support
Please visit the support section of our website for information on Support groups in your area or visit our Useful Links section for other organisations who may be able to offer information and support.
Further information
Haemochromatosis UK
Henrith Business Centre
3 Enterprise Way
Spalding, Lincolnshire, PE11 3YR
Office: 03030 40110
Advice Line: 03030 401102
Email: office@huk.org.uk
www.haemochromatosis.org.uk
Promotes awareness among the health professions, patients and their families, the general public and policy makers.It encourages and supports research, publishes a quarterly newsletter and provides resource material for the medical professions.
Irish Haemochromatosis Association
The Carmichael Centre
North Brunswick Street
Dublin 7
Email: info@haemochromatosis-ir.com
www.haemochromatosis-ir.com
Provides support and information for people with haemochromatosis and related disorders in Ireland. It produces a newsletter, brochures and other media to provide information and raise awareness of haemochromatosis.
Please visit the support section of our website for information on Support groups in your area.