In the first of a series of articles in which we examine the impact other illnesses and conditions can have on your heart, we look at haemochromatosis; Ireland’s most common inherited condition.

We spoke with Dr John Ryan, Consultant Hepatologist (liver specialist) at Beaumont Hospital in Dublin about haemochromatosis and its effect on the heart.

What is Haemochromatosis?

Haemochromatosis is a genetic condition which causes the body to absorb too much iron. Over time this leads to a build up of iron in the blood, bones, and organs like the liver and the heart. People with haemochromatosis have a faulty gene which causes the normal system of iron absorption in the body to break down.

As Dr Ryan explained, “In haemochromatosis the body cannot stop absorbing iron …the system for sensing how much iron is in the body and then adjusting how much you absorb, doesn’t work properly and basically, what happens, is individuals keep absorbing iron from their diet (where you get most of your iron from), and over their lifetime iron builds up.”

“Iron is normally stored in the liver and that is also where it is regulated. In haemochromatosis that system doesn’t work properly so, people develop iron overload. Where you get too much iron typically is in the liver, but it can affect any organ like the heart, the pancreas and other glands, bones, the skin, “he added.

How common is Haemochromatosis?

Haemochromatosis is the most common inherited condition in Europe and Ireland has the highest prevalence of the disease in the world. If both parents carry haemochromatosis genes, then there is a chance that one in four of their children could inherit the condition.

Haemochromatosis affects as many women as men however, as women lose iron through blood loss with periods and childbirth, they are generally protected from haemochromatosis until later in life when they hit the menopause. Men tend to have more severe disease than women.

Dr Ryan explained that haemochromatosis does not affect everyone in the same way as there is “a wide spectrum of severity.” This means that some people with the disease may have no symptoms while others will be severely affected.

According to Dr Ryan, in the past, haemochromatosis used to be called ‘bronze diabetes’ because it can lead to darkening of the skin, diabetes and cirrhosis. However, this rarely happens today because the condition is picked up earlier by GPs.

The highest in Ireland

It is estimated that one in 83 people in Ireland have the faulty genetics that put them at risk of haemochromatosis, the majority of who, Dr Ryan explained, will develop too much iron in their blood and a smaller minority will develop significant organ damage.

Dr Ryan said that in his clinic in Beaumont, he had approximately 1,300 patients with haemochromatosis and this number would be similar across the larger acute hospitals in Ireland. Therefore, there are thousands of people in Ireland affected by the condition. However, he said that based on the prevalence and population data, there should be between 40,000 and 50,000 people affected and just up to 15,000 are actually diagnosed. So, there is a large cohort of people living with haemochromatosis in Ireland who have not yet been diagnosed.

What are the symptoms of haemochromatosis?

According to the Irish Haemochromatosis Association, iron builds up slowly so symptoms may not appear until the age of 30 or 40. These symptoms include: unexplained weakness or fatigue, abdominal pain, diminished sex drive or impotence, arthritis particularly if it occurs in the first and second knuckles or/and the ankles, diabetes, liver disorders, discolouration of or bronzing of skin, mood swings and irritability and abnormal heart rhythm.

Most individuals with haemochromatosis will develop at least one or two of the above symptoms, although possibly in a mild form.

How is haemochromatosis diagnosed?

Here comes the science bit…Haemochromatosis can be diagnosed by your GP with a simple blood test. The blood is checked for what is called the ferritin level. Ferritin is a protein which stores iron in the blood. Therefore, if your ferritin levels are very high this may mean that you have iron overload or haemochromatosis. According to Dr Ryan, a normal ferritin level for a woman is less than 200 micrograms per litre of blood (µg/L) and for a man it is less than 300 µg/L.

While somethings like a high alcohol intake or an illness can cause ferritin levels to be falsely high, a ferritin level blood test is a good marker and is still the standard diagnostic test for haemochromatosis.

Why is too much iron in the body bad for you?

Dr Ryan explained that iron is a “pro-oxidant” meaning that it can ignite inflammation making it worse and causing damage and scarring to organs and tissues in the body.

“Iron is very toxic on its own. That is why in the body it is bound to various proteins like ferritin to keep it from being toxic. So, when it spills over in the blood or organs and is not bound properly, it can cause a lot of damage.”

What effect does too much iron have on the heart?

While heart damage caused by haemochromatosis is thankfully not seen very often, when too much iron deposits in the liver it can cause cirrhosis and, in the heart, it can cause cardiomyopathy or problems with the heart muscle. It can also lead to heart failure.

The proportion of people who develop heart disease as a result of haemochromatosis is low at less than 5 per cent, and the good news is that treating haemochromatosis can reverse the heart damage.

“Once you treat someone with haemochromatosis their heart function should improve it is one of those few reversible causes of heart failure,” Dr Ryan stated.

Screening for heart disease

Dr Ryan said that people with haemochromatosis are not routinely screened for heart disease and that, in his opinion, young patients who present with severe iron overload should be screened for heart problems.

“If I see someone who is 30 years old with high iron, I always request an echocardiogram to check for cardiovascular disease. I also get an E.C.G because they can get conduction abnormalities or arrhythmias of the heart as well,” he said.

Should everyone with haemochromatosis be screened for heart disease?

Dr Ryan said that anyone with a ferritin level of 1,000 µg/L or more would be classed as having “severe iron overload” and they would be at a much higher risk of heart disease. Therefore, he said they should be screened. He also said that anyone with haemochromatosis who complains of any symptoms of heart disease such as breathlessness should also be screened.

How is haemochromatosis treated?

The main treatment for haemochromatosis is venesection. This is where a pint of blood is taken from the patient every week or two until their iron levels start to return to normal. When iron levels are normalised patients then need to get blood taken every three months or so to keep them well.

Good news

The good news about haemochromatosis is that when diagnosed early it is completely treatable and according to Dr Ryan, if it is picked up at the right time it will not impact in any way on your lifespan.

However, he warned that the complications of iron overload can be “life threatening.”

He advised anyone with symptoms of haemochromatosis such as severe tiredness and joint pain to contact their GP in order to get their iron levels checked.

“It is so easy to diagnose …and it could save your life,” Dr Ryan said.

According to Miriam Forde, Executive Director of the Irish Haemochromatosis Association, “early diagnosis of haemochromatosis is critical so that ill-health and serious complications and possible organ damage can be prevented by simple treatment. We encourage people who are suffering from symptoms such as chronic fatigue, joint pain, diabetes, irregular heartbeat or enlarged liver to always consult their GP. Our organisation helps support patients and their families who are affected by haemochromatosis and related disorders to get the support and information they need.”

For more information on haemochromatosis, please contact the Irish Haemochromatosis Association, a charity that provides support and information for those suffering with haemochromatosis and related disorders.

Email info@haemochromatosis-ir.com or please visit www.haemochromatosis.ir.com