EVER HEARD OF Alpha-1 Antitrypsin Deficiency? You might not, but you could be a carrier of this genetic disease – and if you’re a smoker, you may want to get tested.

This year marks the 50th anniversary of the discovery of Alpha-1 by Dr Sten Eriksson and Dr Carl-Bertil Laurell in Malmo, Sweden. Here’s more on the abnormal genes that cause the deficiency.

Due to the similarity of its symptoms to chronic obstructive pulmonary disease (COPD), the condition is often misdiagnosed. Over 10,000 Irish people are severely affected by the deficiency, with another 170,000 at risk if they smoke.

With one in 25 people in Ireland a carrier for the gene that causes the disease, many people are at risk from Alpha-1, which affects the lungs and liver. The Alpha One Foundation has been working to raise awareness, while the RCSI Education and Research Centre at Beaumont Hospital is home to the National Centre for Alpha-1, where new treatments are being worked on and people can get tested and treated in relation to the disease.

TheJournal.ie spoke to an expert on the condition, and a woman who was diagnosed with Alpha-1, to find out more.

The expert

Professor Gerry McElvaney is a Respiratory Consultant, Alpha-1 Specialist, and also Chairman of the Alpha One Foundation.

He explained that about 20 years ago there was a meeting in Geneva of the World Health Organisation (WHO), where the lack of public awareness of Alpha-1 deficiency was discussed.

“The take home messages was that it was a strong recommendation that everyone with COPD (Chronic Obstructive Pulmonary Disease) should be tested for Alpha 1, and everyone with poorly responsive asthma.”

He pointed out that it is estimated it takes seven doctors five years to diagnose someone with Alpha-1 deficiency in the USA, so the number is thought to be similar here.

We do know for example in Ireland there should be at least 3000 individuals with [severe symptoms of Alpha-1 deficiency] and we have identified 300 or so. We know we are misdiagnosing or under-diagnosing it.

Alpha-1 deficiency can present itself as emphysema, where if a person who smokes has the deficiency they will get early aggressive emphysema in their 40s or so. The other group, which makes up 10 per cent of people, present with severe jaundice at birth. In about two-thirds of these cases, it clears up but the remainder may require a liver transplant.

The other group finds through a liver blood test that they have increased risk of cirrhosis, and a small but increased risk of liver cancer. There is also a rare skin disease that can be found in some patients.

“More recently we have found that there may be an autoimmune element,” added Prof McElvaney.

What they see most commonly at the clinic in Beaumont is lung disease, even in people who don’t smoke.

“We are very fortunate in Ireland as we have a targeted detection programme,” he pointed out. He said that people with poorly responsive asthma and cirrhosis of an unknown origin, or vascultis inflammation should all get tested for Alpha-1 deficiency.

Thanks to the Government setting up the targeted detection programme, everyone in the country can get tested free of charge.

“We’re finding out it’s more common than we would have thought,” said McElvaney.

We would have thought it was more common in Scandinavia than Ireland but it’s not – it’s more common in Ireland.

Prof McElvaney and his colleagues want to diagnose the deficiency early; to get people to stop smoking, and to improve their lung function.

One new treatment they are working on is infusing purified blood from someone with normal Alpha 1 to someone who is antitrypcin deficient. A study is out soon on whether this works. Genetic therapy is another form of treatment.

The patient

Josephine McGuirk has personal experience of Alpha-1, and attends the centre in Beaumont.

She was diagnosed with Alpha-1 because her brother Brendan Richmond passed away from Alpha-1 14 years age, aged just 49.

It was only then that her was the family told that he had a genetic condition and that they should be tested

There is a  massively increased risk in Alpha-1s who smoke.  “I already smoked; he smoked as well. I already smoked for a long time, but I’m 10 years off them now,” said McGuirk. Her brother was ill for about five years, and had other underlying illnesses as well. But it took some years for him to be diagnosed.

“It’s hereditary – my parents must have been carriers, and none of us knew. But I’ve two other siblings who have been diagnosed and they have no symptoms.”

She has emphysema and attends the Beaumont clinic for treatment. She also fundraises with others from the patient support group to raise awareness and funds.

For the last seven years she has been on a trial drug, which is “going very well”. Now in her late 60s, McGuirk doesn’t let her Alpha-1 deficiency affect her attitude. “I am a very positive person anyway so I just kind of get on with it”.

I was raging I didn’t know when I was younger and I wouldn’t have smoked. Maybe I wouldn’t have had emphysema.

She recommends people who suspect they could be at risk to speak to their GP and get tested.

She didn’t have symptoms before her diagnosis, but did get emphysema. “It’s great that there’s been some transplants – people are becoming more aware of it,” she said.

All four of her children were also tested, and were found to be carriers. None of them smoke.

“It’s incurable but controllable – that’s my message,” she said, appealing to people “not to be afraid – go and be tested.” She moved near the coast at the age of 58 and hasn’t looked back.

For more information on how to get tested for Alpha-1, see www.alpha1.ie or contact the National Centre for Alpha-1 at Beaumont Hospital by emailing alpha1@rcsi.ie.

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