Most people have heard of COPD, or chronic obstructive pulmonary disease, an umbrella term for a group of lung conditions such as emphysema that can cause breathlessness, coughing, wheezing and chest infections.
Lesser known is a condition that a few people never actually realise they have – but which can be the root cause of COPD.
Alpha-1-antitrypsin (A1AT) deficiency is an inherited condition, which means the liver does not produce a protein that would protect the lungs from potentially harmful substances. This lack of protection means it is far more likely that infections and diseases will occur in the lungs – and there is no cure.
“COPD is a very common lung disease caused by inhaling noxious materials,” says Dr Nick Hopkinson, clinical lead for COPD at Royal Brompton Hospital and medical adviser to the charity the British Lung Foundation. “The most common cause is smoking, but other sources of dust, fumes and chemicals can contribute to it also.
“For people with A1AT deficiency the person lacks an enzyme that protects the lungs from damage, so they are much more susceptible to the effects of any harmful materials they breathe in.
“The key thing is prevention – it’s vital that people with the deficiency don’t smoke. If they do, they will develop lung disease at a much younger age – 30s or 40s – whereas usually COPD symptoms do not arise until people are in their 60s or older.”
Living with and managing the symptoms of COPD
Although there is no cure for A1AT deficiency, the symptoms of COPD that it can cause can be managed so that the progression of the disease is slowed.
Prompt treatments with antibiotics for any infections is important; gentle exercise is recommended; and breathing in dust, smoke or any other noxious materials should be avoided.
There are other treatments in existence – but they are not funded in the UK.
“It is possible to replace the enzyme by having intravenous infusions once a week,” says Dr Hopkinson. “Although this does seem to produce a measurable slowing in the progression of lung disease on CT scans, however NICE” (the National Institute for Health and Care Excellence, which issues guidelines for the NHS on, among other things, what it should pay for) “have looked at this recently and concluded that the extent of benefit was too small given the high cost of treatment.”
Dr Hopkinson says in some cases, where people are diagnosed at a younger age, there may be the possibility of a lung transplant – so although the problem still exists in the liver, it will take longer for the newer lungs to suffer the damage.
As people live longer, illnesses like COPD, which usually affect older people, are more likely to be diagnosed.
Dr Hopkinson says COPD now kills 30,000 people every year just in England and Wales.
The best thing to do to prevent it – don’t smoke.
