Doctors are being urged to test all non-responsive asthmatics for Alpha-1, reports James Fitzgerald
Patients who are not responding to conventional treatments for asthma or similar conditions should be tested for Alpha-1, a genetic disorder that often leads to terminal lung or liver disease, according to the chief executive of the Alpha-1 Foundation.
Larry Warren says it is estimated that just one in 10 sufferers is successfully diagnosed and it is thought that around 1,200 people in Ireland have the disorder, roughly the same number of people with cystic fibrosis.
"What we want doctors to do is test all non-responsive asthmatics and COPD [ chronic obstructive pulmonary disease] routinely for Alpha-1," says Warren.
"We'll send them the kit. All they have to do is send us the dry blood spots and we'll do the rest," he says.
All children who get an acute liver condition, such as jaundice, should also be tested for Alpha-1, he says.
Alpha-1 antitrypsin deficiency is an inherited disorder which results in low levels or non-existence of a blood protein called AAT, which can lead to serious liver or lung disease.
Although among adults it usually manifests in the lungs, Alpha-1 originates in the liver and can lead to liver failure at any time in life.
It is the leading genetic cause of liver transplantation among children. Barring a transplant, it is an incurable disease although certain treatments, such as the introduction of an antitrypsin product, have been found to slow down its development.
"Catching it early can help as patients will learn how to manage it," says Warren.
"All teenagers with non-responsive asthma must be tested as a matter of urgency before they develop bad health habits, such as smoking, and so they can take precautions like wearing a mask while farming or when they're around animals," he says.
An estimated 200,000 people in Ireland carry a single deficient gene that causes Alpha-1 and may pass this gene on to their children.
"Every GP or responding consultant has to ask: is it asthma or is it Alpha-1? We don't want to frighten people but people need to know. Less than a tenth of people are successfully diagnosed and unless doctors are asking that question, we are looking for a needle in a haystack," says Warren.
Warren and Alpha-1 Foundation chairman Prof Gerry McElvaney have co-written a letter that is being circulated to all GPs notifying them of the foundation's national targeted detection programme and inviting them to participate.
A one-day patients conference on Alpha-1 is taking place this Friday in the Marino Institute of Education in Dublin and will discuss issues such as transplant implications, patient support needs and recent developments on the search for therapies.
One of the 1,200 or so Alpha-1 sufferers in Ireland is Joe Clinton from north Co Dublin. Joe (61) was diagnosed in 1990 after he presented at Beaumont hospital with a chronic cough.
"The doctor told me I would gradually develop a condition called genetic emphysema. I asked her if that was the same as smokers' disease and she said 'I'm afraid so'," says Joe. The irony for him, he says, is that his father was a heavy smoker with "a horrendous cough" and from an early age, he vowed never to smoke.
From a farming background, Joe's family was also involved in the poultry business on a seasonal basis. "The sheds were not purpose-built and were poorly ventilated. Consequently, I inhaled the very damaging turkey dust over a 20-year period," he says.
His health has been up and down over the past few years but he had to give up his farming work at the age of 48 and has gradually deteriorated from being an active worker and marathon runner to someone who struggles to walk around the block.
On the advice of a homoeopathist last year, he gave up all dairy products and noticed a real improvement. But a recent trip to hospital resulted in him picking up a chest infection and he now spends at least 12 hours a day on oxygen.
"I cannot sleep, I find it hard to eat and I'm completely stressed out of my head. I was able to walk several hundred yards but now struggle to walk 20," he says.
That said, Joe knows the importance of having a positive outlook on life. A keen sportsman in his younger days, he says his "obsession" with cricket gives him an enjoyable outlet and he feels the benefits of being outside in the fresh air watching the games in his local club, The Hills, near Skerries, where his son, Joe junior, is captain of the first team.
"Life is still sweet and I continue to enjoy my many varied interests. I continue to get considerable support from my family and friends," he says.
"As with all illnesses, it is vital that I look outside of myself and not get drawn into the very destructive self pity syndrome. As a human being it is strange to say but I feel I am a better person with this illness than without it. But that's a hard one to call."
The Alpha-1 Patients Conference takes place on Friday in the Marino Institute of Education, Dublin.