Thousands of Irish people carry a gene that increases the risk of developing severe lung disease but many do not know it.
Alpha 1 antitrypsin deficiency, also known alpha-1, is a hereditary condition that has an "unusually high" prevalence in Ireland, according to research from the Alpha One Foundation.
The figures show it is one of the most common lung disorders in the country alongside cystic fibrosis.
The research estimates 3,000 people have alpha-1 in its most severe form (but only 350 have been diagnosed), about 12,000 have a moderate deficiency and up to 250,000 people have a milder form of the condition with an increased risk of lung disease particularly if they smoke.
Prof Gerry McElvaney, Professor of Medicine at Royal College of Surgeons in Ireland (RCSI) in Beaumont Hospital, Dublin, who has worked in respiratory healthcare for more than 30 years, said Ireland was fortunate to be one of the few countries in the world with a targeted detection programme for the deficiency.
He said the programme was funded by the Health Service Executive and people could be tested for alpha-1 through a blood test for free.
"Some years ago, the World Health Organisation determined that we were missing people with alpha-1," he said. "In the past people with severe alpha-1 wouldn't have been diagnosed. They would have been told they had a weak chest or poorly responsive asthma.
“We’re picking it up more now. It’s more common that we think.”
Prof McElvaney said alpha-1 is a protein produced by the liver to protect your lungs and other parts of the body from the harmful effects of infections and irritants such as cigarette smoke.
Symptoms of the deficiency include breathlessness, wheezing and a cough with phlegm.
“The major manifestation that we see is in the lungs, where it is characterised by what we call airway obstruction or COPD [chronic obstructive pulmonary disease],” he said.
Prof McElvaney said about one in every 25 people in Ireland are carriers and have inherited a combination of the abnormal gene (Z) which increases the risk of developing the debilitating lung condition COPD.
He said people could be deficient in alpha one at different levels of severity.
“If you’ve alpha-1 of the severe form and you smoke, you get emphysema. If you’ve alpha-1 even in the mildest form you have a five-fold increased risk of getting COPD than a non-deficiency individual,” Prof McElvaney warned.
“Everyone with COPD and poorly responsive asthma or liver disease of unknown origin should be tested for it,” he said.
Prof McElvaney also said people who are direct relatives of patients diagnosed with the deficiency and with rare diseases such as panniculitis and vasculitis should be screened.
“If we can get in to these people early and get them to stop smoking that’s an enormous advantage,” he said.
Prof McElvaney said it was “uncertain times” for the 21 patients in Ireland with severe alpha-1 deficiency that are currently receiving a blood product treatment through an infusion once a week.
He said many of those patients began the treatment during the clinical trial in 2006 and that the company continued giving the drug on a compassionate basis, which meant there was no charge, after the trial ended four years later.
Prof McElvaney said the results showed the therapy, called Respreeza, slowed the progression of emphysema in people with severe alpha-1 deficiency.
“They are doing reasonably well, they haven’t required lung transplants . . . it would be an enormous blow to them if this medication was stopped,” he said.
“Our fear is that they [the company] are thinking of ending it sometime around December.
“The real question is who is going to pay for it?”
The National Centre for Pharmacoeconomics is currently assessing whether the therapy will be recommended or not for reimbursement.
Prof McElvaney said an estimated further 40 people could potentially benefit if the treatment was reimbursed.
He said in the US the treatment costs about $80,000 (€74,550) per patient a year.
“It’s probably around the same here. That would be on the reasonable scale of it, it’s expensive but it’s not ultra-expensive.”
Kitty O'Connor, chief executive of the Alpha One Foundation, has called for the therapy to be made available to all patients who could benefit.
“Respreeza has been life-changing for alpha-1 patients. It been conclusively shown to slow the progression of emphysema, and therefore increase life expectancy, but we know from our own research amongst 19 of the 21 people currently receiving it on a compassionate use basis that it has made a huge difference to their daily lives.
“Almost 84 per cent reported an improvement in general symptoms. This was supported by a reduction in the frequency and severity of chest infections and associated hospital admissions.”
Case Study: “I hadn’t heard about the disorder before. When I went back to the GP he hadn’t heard of it either”
It was sudden and shocking moment for Gerry Finnerty when he was faced with the reality of how having the severest form of a genetic lung disorder was about to change his life.
At just 43, Gerry was told he had the serious hereditary condition alpha-1 antitrypsin deficiency back in 2001.
“It was a shock to the system,” he says. “You feel like you’re reasonably okay and then all of sudden someone tells you you have something that is going to curtail your life and possibly leave you in incapacitated and you don’t know how soon.
“It frightened me to be honest.”
Gerry, from Kinsealy, Co Dublin, says he had not suffered any “real health problems” through his life and played a lot of sport, including soccer and Gaelic football up until his mid 30s.
His breathing problems began after a series of chest infections that became more severe.
“The GP put me on Ventolin and some of the normal asthmatic-type inhalers. They were not doing me any good,” he says.
A friend of his wife suggested he should see a pulmonary specialist, which is where he first heard of alpha-1, the protein made in the liver to protect lungs and other body parts.
He was referred to Prof Gerry McElvaney, an alpha-1 specialist, who diagnosed him with the severest form of alpha-1 deficiency, as he had inherited the abnormal Z gene from both his parents.
“It was explained I’d have gradual degeneration of the lung capacity and emphysema will be there as well,” he says.
“I hadn’t heard about the disorder before this. When I went back to the GP he hadn’t heard of it either at the time.”
Gerry says he was told how he managed his lifestyle would also be a factor in how quickly his condition deteriorated.
“You think differently about a lot of different things when you’ve been diagnosed with a health issue. I’m not saying I’m a health freak but I try my best to lead a healthy lifestyle,” he says.
He says he was lucky to have stopped smoking when he was 33 to give his lungs some chance to recover for a few years.
In 2006, Prof McElvaney offered Gerry a place in a new clinical trial for a weekly blood product treatment.
As the years went by, Gerry said he noticed his chest infections became less severe. Almost 15 years on from his diagnosis he continues to work as a sales director. However, even with the drug his lung capacity is reduced and for the last four years he has used an oxygen bottle while performing some daily tasks.
“The lung capacity’s still dropping but it’s not dropping at the same level as it would have if I hadn’t that drug, that’s for sure.”
Gerry recently signed up for another trial, which involves at least three hours of aerobic and resistance training a week.
“It’s to see what people with low lung capacity are capable of with exercise. I exercise for an hour at a time with the oxygen bottle on my back and I’ve been doing very well. Overall, my body got stronger.”
Gerry says he strongly believes people are better finding out sooner rather than later if they have the alpha-1 deficiency.
“Ignoring a health issues does come back to bite you. You are better off knowing what you have to deal with.”
Case study: “If this product isn’t available after December . . . it would be crushing if we had to move where it was available”
Jane Keenan had been increasing her exercising and eating a healthy diet but knew there was something not quite right. Despite feeling “very fit”, the problem of breathlessness kept persisting.
Her GP organised tests to find out the cause of her breathing difficulties.
“If I was walking with somebody and we were trying to talk – walking and talking at the same time just didn’t work for me.”
Jane was diagnosed during the summer of 2009 with the early stages of emphysema and the genetic condition alpha-1 antitrypsin deficiency.
“I inherited two bad genes from my parents and I have the full-blown version of alpha-1 ZZ. It was very daunting,” she says.
“Through my life I’d looked after my health. I watched my diet and exercise. I had the run-of-the-mill bronchitis and flu previous to this. I’d been a smoker only for a little while way back in college.”
Jane, from rural upstate New York, had recently retired when she was diagnosed.
“I’d worked for 38 years and I thought ‘wow, wouldn’t it be lousy if retirement turned out to be compressed and contained rather than liberated and active’.”
“I wasn’t beset with worry that I was going to die in a couple of months but I wanted to maintain as physically active a lifestyle as possible and get the most out of life as I could.”
Living in the US at the time, she was offered an approved treatment that would help halt the progression of the emphysema. She agreed to the treatment of a human blood by-product, which involved an infusion of the therapy once a week.
Two years after her diagnosis, Jane and her husband – an artist, Buddhist priest and writer – decided to follow a lifelong dream and move to Ireland. However, the move almost did not happen when she learned the treatment was not approved in Ireland.
Timing was on her side as not long after she had contacted the drug manufacturer, she was told a clinical trial had started at Beaumont Hospital.
She was approved on a compassionate basis, which meant she did not have the pay for the treatment, and the couple moved to the rural village of Durrus, near the Sheep’s Head peninsula in west Cork, in July 2011.
Jane, who recently celebrated her 70th birthday, says she cannot imagine living anywhere else and continues to enjoy an active life.
“I’m learning Irish, I enjoy walking the hills, I avoid smoke and I dance when I can,” she says.
“I don’t get oxygen in between weekly treatments. I’m told I had very good lung function. The beginning stage emphysema has stopped from continuing to develop.
“If it should be this product isn’t available after December . . . it would be crushing if we had to move where it was available”.