Question

I’m a 30-year-old man who suffers with fluctuating mild to moderate ME. In addition to classic ME symptoms – debilitating fatigue, brain fog, etc – I also have quite a lot of joint and stomach pain which seem to be more marked and persistent than is normal in ME.

In blood tests I’ve had since having the symptoms, I noticed that I have a slightly elevated ferritin level. Could this mean that I have an iron-storage disorder called haemochromatosis because I know that one of my distant relatives had this condition? Should I now go back to my GP?

Answer

The answer is a definite yes – you must go back to your GP and ask for this to be further investigated because haemochromatosis/iron overload is a serious condition that can cause ME/CFS-like symptoms and should therefore form part of the differential diagnosis of ME/CFS.

The MEA has always stated that measuring serum ferritin levels (which indicates how much iron is stored in the body) should be part of the raft of blood tests that are checked before a diagnosis of ME/CFS is confirmed. If the level is raised, the possibility of haemochromatosis must then be excluded.

Sadly, we are aware of cases where haemochromatosis has been misdiagnosed as ME/CFS and late diagnosis has then resulted in other health problems.

Haemochromatosis is a fairly common inherited condition where iron levels in the body slowly build up over many years. It is caused by a faulty gene that affects how the body absorbs iron from the diet. People are at risk of developing the condition if both parents have this faulty gene and you inherit one copy from each of them.

It occurs more commonly in people of white northern European background and is particularly common in countries where people have a Celtic background, such as Ireland, Scotland, and Wales.

The build-up of iron, known as iron overload, can cause a range of unpleasant symptoms. If haemochromatosis is not treated, this can damage parts of the body such as the liver, joints, pancreas, and heart.

Symptoms of haemochromatosis usually start between the ages of 30 and 60. Common symptoms include:

• feeling very tired all the time
• weight loss
• weakness
• joint pain
• erectile dysfunction in men
• irregular, stopped or missed periods
• Brain fog/cognitive dysfunction, mood swings, depression and anxiety

If the condition is diagnosed and treated early on, haemochromatosis does not affect life expectancy and is unlikely to result in serious problems. However, if it’s not recognised until it’s more advanced, the high iron levels can damage parts of the body. This can lead to potentially serious complications, such as:

• liver problems – including scarring of the liver/
• cirrhosis or liver cancer
• diabetes
• pain and swelling in the joints
• heart failure

Several blood tests are needed to confirm a diagnosis of haemochromatosis. These include:

• full blood count test
• liver function tests
• a transferrin saturation level test (Tsat) to check how much iron in the blood is bound to the protein transferrin. This shows if you have a high iron level in the blood
• a serum ferritin level test to check the amount of iron stored in your body

If blood tests confirm haemochromatosis, you will then have a test to see if your DNA carries the gene associated with the condition. These tests will help show if you have haemochromatosis, if you’re a carrier of a faulty gene linked to the condition, or if you might have another condition that causes high iron levels.

If haemochromatosis is strongly suspected or confirmed, you’ll usually be referred to a hospital specialist to discuss what the results mean and whether you might need any further tests or treatment.

While there is currently no cure for haemochromatosis, there are treatments that can reduce the amount of iron in the body and reduce the risk of damage. The two main treatments are:

• venesection (phlebotomy) – which removes some of your blood; this may need to be done every week at first and can continue to be required 2 to 4 times a year for the rest of your life
• chelation therapy – medicine to reduce the amount of iron in your body; this is only used if it’s not easy to regularly remove some of your blood

People with haemochromatosis do not need to make any big changes to their diet to control iron levels but they are usually be advised to avoid:

• breakfast cereals containing added iron
• iron or vitamin C supplements
• drinking too much alcohol

Finally it’s important to note that ME/CFS does not cause iron-deficiency anaemia. So there is no point in taking iron supplements to try and reduce your fatigue levels. Taking too much iron can cause iron overload and the same sort of serious health problems as in haemochromatosis.

Further support:

• Haemochromatosis UK is a patient-run UK charity that provides information and support to people living with haemochromatosis.