Recently Diagnosed

Most people, when given a diagnosis of A1AD, have no understanding of what that means. It can be a difficult and worrying time for all concerned, especially when doctors just send you away without explaining how it might affect you or your family. We hope this guide will help to answer some of the many questions you may have.

What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Antitrypsin Deficiency, or Alpha-1, is an inherited, genetic condition that is passed on from generation to generation. As the name suggests it is a deficiency of alpha-1 antitrypsin (AAT) in the bloodstream. AAT is an enzyme (sometimes called a protein) produced in the liver to help protect the tissues of the body during infections. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a build up of abnormal AAT in the liver that can cause liver disease and a decrease of AAT in the blood that can lead to lung disease.

The fact that you have A1AD does not mean you have a disease it is referred to as a condition or disorder. However, it can eventually lead to tissue damage resulting in disease.

How does a lack of Alpha-1 Antitrypsin affect the body?


When someone gets an infection, the immune system kicks in and releases white blood cells into the bloodstream, these white cells attack and kill off the infection. Then when the white cells have done their job, they in turn are killed off by the AAT released from the liver. To a lesser degree, the same thing happens throughout life since the white cells are constantly cleaning up, as the lungs are exposed to pollution.

Alphas, whatever the gene combination, have less AAT in their bloodstream than normal. Those with the most serious gene combinations have hardly any and as a result the white blood cells are not killed off. This means that once they have finished the job of cleaning up the infection they continue digesting healthy tissue for some time. This tissue damage mainly occurs in the lungs.

It is the loss of tissue over many years that results in serious lung disease. It very often takes 40 years or more for the damage to become noticeable.

Symptoms of Alpha-1 Antitrypsin Deficiency related lung disease:
  • Family history of lung disease
  • Rapid deterioration of lung function with or without a background of
  • significant smoking or occupational exposure to lung irritants
  • Asthma that is not fully responsive to treatment
  • Shortness of breath or awareness of ones breathing
  • Decreased exercise tolerance
  • Recurring respiratory infections
  • Chronic cough and sputum (phlegm) production (not always present)

You now know that AAT is produced in the liver and that the AAT an alpha produces is abnormal. Unfortunately as previously mentioned, this means that it gets stuck in the liver and can’t be released into the bloodstream. For most people this added complication doesn’t cause too many problems. However occasionally, the build up of the faulty AAT in the liver does cause liver disease.

It isn’t really understood why, but alpha babies can occasionally be born with serious liver disease due to the build up of AAT during their development in the womb. So rarely, liver problems become apparent very early in life, however most alphas will never have liver disease with just a few experiencing symptoms later in life.

Symptoms of Alpha-1 Antitrypsin Deficiency related liver disease:
  • Family history of liver disease
  • Unexplained liver problems
  • Elevated liver enzymes

How did I get Alpha-1 Antitrypsin Deficiency?

As you probably know we are all made up of many, many pairs of genes. For each pair we inherit one from each parent. Pi stands for protease inhibitor of which alpha-1 antitrypsin is just one. A “normal” person is what is called PiMM i.e. two normal genes, this means that they produce a full supply of AAT. Sometimes a faulty gene is thrown into the mix; the most common abnormal gene is called the Z gene (there are other variations but since they all follow the same pattern we’ll stick with the Z). For someone to be PiZZ they must have inherited a faulty gene from each parent, which means in turn that their parents must have had a least one Z gene (MZ).

How will this affect my own family?

If you have been diagnosed with one of the most severe genetic combinations it does mean that your children will have inherited at least one faulty gene because that is all you have to pass on. Unless the other parent also has a faulty gene your children will be carriers i.e. they will have one normal gene and one faulty gene. This is why many parents have blood tests themselves to rule out a second faulty gene. So, if you are ZZ (or other serious combination) you will automatically pass on one faulty gene.

If your partner is also ZZ the children will be ZZ.

If your partner has just one faulty gene e.g. MZ, then the children could be either ZZ or MZ depending on which gene they have inherited from them.

If on the other hand you are an MZ carrier and your partner is the same then the children could be ZZ if they are unfortunate enough to inherit both faulty genes.

Alternatively, they could be MZ (or ZM basically the same). On the other hand, they could be lucky and inherit both normal genes.

It therefore follows that an MZ carrier partnered with a normal MM person would produce children who are either MZ carriers or completely normal with MM genes.

Carriers of A1AD have less AAT than “normal” people but they do usually have enough in their bloodstream to prevent serious problems.

It isn’t really understood why but all alphas, including some carriers, do seem to be more susceptible to picking up colds and ‘flu. Therefore, it is just as important for carriers to look after themselves and it would be sensible to avoid smoking, and drinking to excess.

How is Alpha-1 Antitrypsin Deficiency treated?

Unfortunately, there is no specific treatment as yet for A1AD, so all that can be done is to treat the symptoms as they arise. It is vital that all the doctors involved in your care, are aware of the deficiency and the need to prescribe such things as antibiotics and oral steroids at the first sign of a chest infection, to help prevent lung damage.

In addition, it is very important to have the ‘flu vaccination annually and also the pneumonia vaccination every five years.

The rest of your treatment will usually consist of various inhalers depending on which suit you the best.

Augmentation therapy, which replaces the missing enzyme through infusions of purified human AAT has been developed, but this is not yet reimbursed in the UK. However there are ongoing trials of an inhaled form and it is hoped that this will eventually be approved and available, for some alphas at least, in the near future.

How can I help myself?

One of the first things you need to know is exactly which AAT genes you have, without that knowledge it is difficult to know how the diagnosis will affect either you or your family.

Not everyone with A1AD will develop symptoms and even if you have, proper treatment and lifestyle changes only you can make, will significantly improve your quality and quantity of life. Cigarette smoke is the greatest risk factor for developing life threatening symptoms. If you are a smoker, the single most important thing you can do to help yourself is to give up immediately.

Wherever possible you should also avoid other lung irritants especially environmental pollutants used in agriculture, mineral dust, gas and fumes.

Regular exercise and good nutrition are important in maintaining lung health. Eating a well balanced diet which includes plenty of fruit and vegetables should provide you with enough vitamins and minerals. The fat soluble vitamins (A, D, E and K) are especially important for lung health. However, it is important to remember that A1AD is also a liver problem and because these vitamins are stored in the liver it is best to avoid taking large supplements.

Where can I find more information and advice?

If you haven’t already done so, a good place to start would be to join the Alpha-1 UK Support Group. As a Charity member you will receive up-to-date information on any events, “hot off the press” news and opportunities to become involved in our campaign activities targeted at improving access to care and therapies in the UK. Our Facebook Group provides support relating to all aspects of living with A1AD, including advice for claiming benefits. Of course, you will also have the friendship and support of fellow alphas who have a lot of experience in coping with all that having A1AD means.

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