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Opinion: Misdiagnosed and misunderstood – the dramatic swelling disorder that can be fatal

Hereditary Angioedema is a rare inherited genetic condition which causes huge swelling on any part of the body, but it is frequently misdiagnosed.

Gerry Fahey

TODAY, 16 MAY, is Hereditary Angioedema Awareness Day.

Hereditary Angioedema (HAE) is a very rare inherited genetic condition which affects one in 50,000 people, and if left undiagnosed and/or untreated has a mortality rate of about 30%. This means that one in three of those with the condition will die from it without it being diagnosed. Because it is such a rare condition it is frequently misdiagnosed. This is not a reflection on the medical profession.

If a parent has HAE, there is a 50% chance they will pass it on to their children. HAE can also occur with no family history, as it is a spontaneous gene mutation. HAE is characterised by huge swelling of the tissues (angioedema) which last from three to five days. These swellings can occur on any part of the body: hands and feet, arms and legs, torso, intestines, genital organs, face, tongue, neck and airway.

HAE attacks can start at any time from early childhood to adolescence or later in life. The frequency of attacks can vary from once or twice a year to every few days in the most severely affected patients. Intestinal swelling causes sickness, diarrhoea and very severe pain. Swelling of the face and tongue can lead to swelling of the airway which is life-threatening.

My motivation

In 2012 the US Senate unanimously passed a resolution recognising 16 May as Hereditary Angioedema Awareness Day in the US. The resolution was put before the Senate by Senator Daniel Inouye of Hawaii and Senator Saxby Chambliss of Georgia.

Because a family member of mine has the condition, I was motivated to act to inform the public and set out in 2012 to try to get the Irish media to publicise HAE Awareness Day. Why? Obviously one reason for doing so is that I was motivated by my awareness of the condition but, more importantly, because the condition is so rare it is estimated that without a public health education programme, at least half of those with the condition are undiagnosed. Frequently these individuals receive the wrong medication because of misdiagnosis, can be wrongly operated on for appendicitis, or have to endure days of unrelenting, severe and debilitating pain with no relief.

The seriousness of the condition is highlighted by what happened to a nine-year-boy who had the condition, not so long ago, in Germany. He had been diagnosed with HAE and was fishing on the day with his uncle that he had an attack. He died as a result the attack because he asphyxiated within 20 minutes of the first symptoms. There simply wasn’t sufficient time to get him to hospital for emergency treatment.

Trying to raise awareness of HAE

I became aware in 2012 of the HAE Awareness Day initiative of the International Hereditary Angioedema Association and the action taken in response to this by the US Senate, and so decided to try and publicise the event in Ireland. I contacted RTE, Minister James Reilly’s office, and the medical correspondents of a number of our national newspapers asking for support in publicising the event. None of them responded, even though I did receive a standard acknowledgement letter from the Minister’s office.

I tried again in 2013 and this time contacted RTE Radio 1 but, once again, got nowhere with my attempt to publicise HAE Awareness Day. Publicising the event would have cost the State, RTE or the national newspapers very little but would have generated awareness among the public and medical profession of HAE and, possibly, saved some lives – admittedly a very small number, but some lives all the same.

This raises some very serious questions about the attitude of the State regarding social policy as it impacts on health education and, also, the priorities of RTE and our national media. Do lives matter? Or is it that the Department of Health takes the view that informing the public about HAE may lead to costs being incurred by the HSE and that the alternative – leaving the public in ignorance – will eschew the costs of preventative treatment and medication?

In addition, RTE, as our taxpayer-funded public service broadcaster, has some serious questions to answer about its failure to publicise HAE Awareness Day – particularly when one considers that TV3 did have a feature on HAE on one of its morning programmes (not on HAE Awareness Day) in 2013. TV3 is not in receipt of any taxpayer funding.

I would like to thank TheJournal.ie for publishing this opinion column and fulfilling a necessary public service role for which it does not receive any state funding.

Gerry Fahey is an Occupational Psychologist and a graduate of TCD and the University of Illinois at Urbana Champaign.

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Gerry Fahey

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