Alpha-1 Antitrypsin Deficiency

Part of the debate – in Westminster Hall at 3:59 pm on 31st October 2018.

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Photo of Mark Pawsey Mark Pawsey Conservative, Rugby 3:59 pm, 31st October 2018

I beg to move,

That this House
has considered treatment for alpha-1 antitrypsin deficiency.

It is a pleasure to serve under your chairmanship, Mr Hollobone.

Hon. Members might wish to know what alpha-1 antitrypsin deficiency is. It is a rare and complex hereditary illness, and those who suffer from it simply refer to it as alpha-1 and to themselves as alphas. Some people affected by alpha-1 are in the Public Gallery today.

I will explain the condition: alpha-1 antitrypsin, or AAT, is a protein produced in the liver. In healthy people, it is released into the blood circulation to protect the body from the effects of inflammation, but for those with alpha-1 the protein does not function properly and is trapped in the liver. That can cause damage to the liver and, because the protein is unable to circulate around the body, the lungs lack the protection they need from the damaging effects of pollutants and infections. Those with alpha-1 are particularly susceptible and sensitive to cigarette smoke, for example.

Alpha-1 affects both children and adults, and the condition is chronic and progressive. It can affect life expectancy and lead to disability, leaving sufferers dependent on the health service and carers. The damage it can cause to the liver can lead to jaundice, sickness and tiredness, and those with the condition are more prone to chest infections, often leading to a swift deterioration in health. In extreme cases, patients can require an organ transplant.

In the early stages, it is common for alpha-1 not to be properly diagnosed, and sufferers are often thought to have asthma or chronic obstructive pulmonary disease, more widely known as COPD. In many instances, they are treated for those conditions for a number of years before a correct diagnosis is given. As with most conditions, the earlier diagnosis takes place and appropriate treatment can begin, the better someone’s chances of managing the condition.

I became aware of the condition in 2012, when a constituent of mine, Sarah Parrin, attended my constituency advice surgery and brought along her son, Stephen Leadbetter. Stephen’s case was characteristic of many others across the country. He had been thought initially to have severe asthma; he had suffered with lung problems since the age of 14 and had undergone several surgeries due to pneumothoraxes. Those occur when small sacs of air collect in the pleural space between the lung and the chest wall, creating pressure on the lungs that can lead to lung collapse.

Stephen was 22 when I met him, and had only just been diagnosed with alpha-1, eight years after he had really started to suffer. The thing I remember most about his mother’s bringing him to see me was her telling me how things would have been so much better if Stephen had been diagnosed earlier and been able to access specialised services. If that had been the case, his health might not have declined so rapidly during his teenage years.