More often than not someone is diagnosed with A1AD because they have become ill. In the case of lung disease this often happens so slowly that the patient doesn’t actually get a diagnosis until around half of lung function has been lost.
A mis-diagnosis of “adult onset asthma” is very common. The early symptoms of cough, wheeze and a tendency to develop chest infections are difficult to separate from asthma. Of course once a diagnosis has been made other affected family members may be identified by screening. This might not be the right course of action to take in every situation.
It remains unclear what insurance companies might do in the future regarding genetic conditions. At the moment the banning of companies asking for test results has just been extended. If you are in this situation it would be best to take advice, possibly from the NHS genetic counselling service.
What is undoubtedly true is that knowing you have “full-blown” A1AD is very important. It enables individuals to make certain life choices that will help prevent the development of disease, and may slow down progression if disease is present.
Rather obviously, the most important choice to make is not to smoke. Other considerations are working environment and the prompt, aggressive treatment of any chest infections.
When Erikkson first described A1AD in the mid sixties he estimated that 80% of people with the PiZZ phenotype would develop emphysema and probably die in their fifties. Officially the average age of death is still put at 54, but this is quite clearly in need of updating. Speaking at a conference in 1999 he had now decided that for lifetime non-smokers it was likely that only around 20% would develop significant emphysema at an early age.
What seems absolutely clear is that even smoking moderately for a few years is enough to start the disease process and, once started it will always progress. However the rate of that progression is enormously variable. Some people are needing a lung transplant in their late twenties others are only slightly “wheezy” in their seventies
How can we help slow the disease down?
Apart from not smoking and breathing in heavily polluted air there are quite a few things that have been shown to help.
Repeated chest infections can do terrible damage to the lungs as infection causes extreme inflammation. Try to avoid places where you might be at risk of picking up a ‘cold’.
Believe it or not colds are actually quite difficult to catch and more often or not a person becomes infected by touching some object or surface that the infected person has also touched.
Clumps of viral particles stick to nasal mucus and are transferred to the nose or eye by our hands. Just think about how often you touch your nose, or rub your eye!
Hand washing after being around someone with a cold is a good idea. As a man it is often difficult to avoid shaking hands but if you must, don’t touch your face before you’ve washed your hands.
Should you worry about the person with a runny nose handing you change? Definitely.
I’m afraid that children pose a high risk of infection as not only do they have many, but they generally aren’t too bothered about sneezing and coughing. Obviously those with grandchildren are going to have a hard time here, but it is worth “educating” friends not to come over if they think they may be coming down with something. Don’t let them say, “oh, it’s only a cold” as what is only a cold to them could put you in hospital and will take some more of your precious lung tissue.
If you do feel as if you are brewing something nasty then start on antibiotics and Prednisalone straight away. Don’t wait for bronchitis to set in before you medicate. Most Doctors will give a supply of drugs to keep at home. ADAPT recommend two weeks of antibiotics and two weeks of 30mg/day of Prednisalone.
If you start to bring up “stuff” that looks dark brown or rust coloured go back to the doctor ASAP.
What happens is that a person does less because they don’t like getting short of breath (SOB). So, they do less. Their muscles start to waste away and because of this they get even more sob when trying to do anything. This is the spiral of de-conditioning and over a few years this can have a dramatic effect on that persons well being and fitness. The only way to break this downward trend and to reverse the process is exercise.
If you don’t have access to a pulmonary rehab group then start campaigning to get one at your local hospital. These courses usually last around eight weeks and consist of gentle exercise routines, combined with education about the best way to manage your symptoms and disease.
Being empowered to “own” your disease is important and can bring renewed confidence. If you are overweight you’ll be surprised at how losing a few stone can help your breathing as you now don’t need to lug that weight around and keep it all oxygenated!
Carriers and illness
In the vast majority of cases people who have one normal, and one abnormal gene for A1AD stay perfectly healthy and live their lives never even knowing that they are PiMZ ( or PiMS).
A fairly recent long term study was published in Denmark. The research was aimed at looking at the risk of “carriers” developing lung disease. The study lasted for over twenty years and attempted to quantify the risks, if any to PiMZ individuals.
The authors concluded that if the risk of COPD in the whole population was “1” then the risk to MZ’s was “1.5”. At first glance this appears to show that MZ’s have half as much chance again than people with normal AAT. In fact, as the authors point out, as the risk to the general population is small then the risk to an individual who is MZ is also very small.
The same study, using the same benchmarks, says the risk of COPD in PiZZ’s as “12”.
Other studies have made similar conclusions that having lower levels of AAT do not in themselves cause a risk. But add smoking, asthma and other unknown factors and the risk to MZ’s is higher than for MM’s.
Dr Jack Lieberman, an early pioneering researcher into MZ’s and disease said that he had never seen a PiMZ patient who had emphysema and had never smoked. In fact there are a small number, and indeed there is also a tiny number of people with normal AAT who also have never smoked and have emphysema. They just haven’t yet figured out why!
A recent report from the US concludes that being PiMZ does not increase the risk of liver disease, and that liver disease was no more frequent in that phenotype than in PiMM individuals.
Of course, both lung and liver diseases are common in the general population. But generally, the good news is if you don’t smoke and have children or relatives that are PiMZ then the overwhelming chances are that they will remain in good health.
Ok, so am I going to die?
Having Alpha-1 isn’t a death sentence. Even if you are PiZZ then you can live a normal life and may well completely escape any major problems. It is likely that unless some developments occur that you may well become SOB in your seventies.
If you do have symptoms whilst young(ish), it probably means that you are a smoker or ex-smoker. Don’t feel guilty… it’s not your fault. You almost certainly wouldn’t have developed this without the A1AD. Giving up, even at this stage, is always worthwhile as the rate of decline will slow down. If you do smoke then you know what to do. If you don’t stop you’ll lose lung function so quickly that it’s frightening.
If you work in one of the dusty jobs, or jobs like soldering and welding then you’ll have to rethink what you do. Ditto for woodworking, masonry, mining, baking and fibreglass resin work. In fact, anything that makes you cough.