Alpha-1 Antitrypsin Deficiency

Jim Shannon Excerpts

Wednesday 31st October 2018 Westminster Hall

[Mark Pawsey (Rugby) (Con)]

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.

[Jim Shannon (Strangford) (DUP)]

I congratulate the hon. Gentleman on bringing this matter to Westminster Hall for consideration. As my party’s health spokesperson, this is something that I have responsibility for, so I appreciate it. While AATD can cause a lot of conditions, such as COPD or liver disease, it is a separate condition. If treatment for it was available in the UK, that could prevent the development of other lung and liver conditions, as he has said. Surely the prevention of other diseases would be of long-term benefit to the national health service. I say that to the Minister in particular. While there are some lifestyle changes that people can make, AATD is inherited and if a person has inherited two ZZ genotypes they are likely to develop further issues.

Does the hon. Gentleman agree that time must be given to clinical trials involving AAT augmentation therapy? If he does, perhaps the Minister would like to respond positively to that.

[Mark Pawsey]

The hon. Gentleman anticipates two of the asks that I will come to later; I thank him for that helpful contribution.

Going back to Stephen’s condition, he suffered very seriously from chest infections. In fact, at one point he suffered with his lungs collapsing, and Birmingham Children’s Hospital, which was treating him at the time, took the decision to staple his lungs to his chest wall. As I say, it was eight years after first presenting with the issues that Stephen’s own general practitioner tested him for alpha-1 and that was found to be the condition he was suffering from.

The British Lung Foundation estimates that approximately 25,000 people in the UK suffer from the disease, and while many can live relatively normal and healthy lives, others such as Stephen suffer from the condition. Interestingly, I was contacted only today by a colleague here in Parliament, who told me that they suffer from the condition and that, as one of three siblings in a family of six, they were involved in a study based at University College London in the 1970s. That was someone we would not recognise as being a sufferer, which exemplifies the fact that not everybody shows the symptoms that so many people have.

It is rarer for children to suffer, which explains why the doctors who treated Stephen did not test for alpha-1 initially, but we can be grateful that by 2012 he was finally correctly diagnosed. Stephen’s mother Sarah was very concerned about the lack of awareness of the condition and became involved with the Alpha-1 Alliance, a charity formed in 1997 to support those suffering from the condition and their families, carers and friends. We are joined today by members of that group and affiliated organisations, as well as Professor David Parr, who is head of medicine and clinical director for cardiothoracic services and a consultant respiratory physician at University Hospitals Coventry and Warwickshire.

Both Sarah and Stephen, who suffers from alpha-1, have told me that they found the support from the Alpha-1 Alliance and the alpha-1 support group invaluable. When I met them back in 2012, they asked me to get more involved, learn and understand more about the condition, and do what I might as their Member of Parliament to raise awareness here in Westminster. To that end, I raised the condition with the Leader of the House in business questions in December 2012; I understand that was the first time that the condition alpha-1 had been mentioned in the House. We then arranged a seminar and a report was brought to Parliament, and there I met Professor Parr, whose hospital, UHCW, happens to serve the residents of my Rugby constituency.

At that time, there was a sense that the work of the Alpha-1 Alliance was gaining traction and starting to raise awareness. We had a meeting with the then Secretary of State, my right hon. Friend the Member for South West Surrey (Mr Hunt), and Karen North and Margaret Millar of the alpha-1 support group came along to explain a little about the condition and how the treatment for it could be improved.

Testing for this condition is a relatively straightforward process, requiring a simple blood test. Many organisations, including the World Health Organisation, have made recommendations on who should be tested for the condition, such as anyone who suffers from emphysema, COPD or chronic bronchitis; people with a family history of liver disease; and certainly blood relatives of a person diagnosed with alpha-1. Perhaps also newborns and children with unexplained liver diseases should be considered as potential sufferers from alpha-1.