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Expert Answers: Alpha-1 and COPD.

Expert Answers: Alpha-1 and COPD

There have been several discussions in our COPD.net community, including on our Facebook page, about Alpha-1 and COPD. So, we asked our experts to answer the following question:

What is Alpha-1 and how does it relate to my COPD?

Response from Ann
Alpha-1 is short for Alpha-1 Antitrypsin Deficiency. This is a genetic form of emphysema, which means it’s inherited and passed on through families. In addition, it is not related to tobacco use and is less common. People who have Alpha-1 have a deficiency in the protein alpha-1 antitrypsin. This protein is made by the liver and it protects the part of the lung where oxygen and carbon dioxide are exchanged. Without this protein a type of emphysema develops in the lung.
Alpha-1 is considered a form of COPD and people with Alpha-1 have many of the same symptoms as people who have COPD from tobacco use. One difference between people with Alpha-1 and people with tobacco-related COPD is how each is treated. Alpha-1 is treated with “augmentation therapy” this is a therapy where they replace the alpha-1 antitrypsin protein that is missing. Inhaled medications and oxygen therapy are also a part of treatment just like the common forms of COPD. The Alpha-1 Foundation is an organization dedicated to research and information about Alpha-1; here is their website.

Response from John
It probably doesn’t. Keep in mind that every person, or many of us anyway, slowly lose lung tissue over time, often referred to as senile emphysema. It usually does not affect us during our lifetimes because it occurs gradually, and doesn’t affect us during our productive years. In fact, most of us have no symptoms at all. Alpha-1 antitrypsin deficiency is something that affects only 1-2% of people with COPD. Antitrypson is a protein produced in the liver that prevents the natural breakdown of lung tissue. A rare genetic mutation occurs that causes the liver to produce less of it. Lacking this protein, their lung tissue breaks down early in life, rather than later. This happens even if they never smoked. It forces them to make the same lifestyle changes as anyone else with COPD, such as avoiding COPD triggers, wearing oxygen, and taking COPD medicine.

Response from Leon
Quite simply, Alpha1, otherwise known as alpha-1 antitrypsin (AAT) deficiency, is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease. Alpha-1 antitrypsin (AAT) is actually a type of protein called a protease inhibitor. An AAT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. Adults with severe AAT deficiency will develop emphysema, often before age 40. The severity of the disease can vary from person to person. Some people who have this deficiency have a higher level of AAT in their blood than others, and therefore the illness may manifest itself as a less severe condition for them. A physician will be able to determine how advanced your COPD is and the best way to treat it.

The symptoms of AAT are very similar to those of COPD itself. These symptoms include shortness of breath (even without exertion), wheezing with decreased breath sounds, cough, mucous production and fatigue. Physically, the person may have a barrel-shaped chest appearance. If liver disease is present, then cirrhosis and unintentional weight loss may also be manifest.

Other tests needed to make a definitive diagnosis are an Alpha-1 antitrypsin blood test, arterial blood gases, x-rays and CAT scan of the chest, genetic testing and pulmonary function testing.

You may be evaluated for AAT disease if you develop emphysema before age 45 or there is a family history of the condition and you’ve never smoked. Treatment is much like the treatment of non-genetic COPD and will include a smoking cessation program, bronchodilators, supplemental oxygen when indicated, preventive vaccinations, and a physical rehabilitation program. In addition, intravenous (IV) therapy, in an effort to replace the missing AAT protein, may be recommended.

Response from Lyn
An important distinction to make is that not everyone with COPD has Alpha-1 Antitrypsin Deficiency. However, it is suggested that those with COPD be tested to rule it out.

Alpha-1 Antitrypsin (AAT) Deficiency is an inherited genetic condition in which a person will have lower than normal serum levels of AAT and in severe cases, no serum level at all. Sometimes referred to as “genetic COPD”, those with Alpha 1 lung disease inherit one abnormal gene from each parent. AAT is a protein made in the liver and released into the bloodstream. AAT is necessary to keep the lungs healthy and damage-free. Without the serum the lungs can become impaired and injured. Obviously if the person is unaware they have it, they’re in more danger of damaging their lungs, such as by cigarette smoking.
Initially the symptoms that appear are very similar to typical COPD:

  • Shortness of breath
  • Exercise intolerance
  • Chronic cough
  • Asthma that doesn’t clear up with treatment
  • Chronic Wheezing
  • Frequent colds
  • Relapsing pneumonia

It’s treated much the same as COPD – bronchodilators and corticosteroids are at the top of that list. Lung infections are generally treated aggressively with antibiotics so as to avoid damage to the lungs from the infection. In addition to those treatments, specific to Alpha-1 is intravenous infusions of AAT proteins from donors.

Healthy lifestyle adjustments are imperative for those with Alpha-1. At the top of the list is to quit smoking (if you do) and stay away others that smoke and any fumes that could damage your lungs. Try to get enough sleep, moderate exercise, and eat well-balanced meals.

Have comments for others in the COPD.net community? Please share them below!

Comments

  • flo 1
    3 years ago

    I suffer from alpha one, A1AD , there is a million reasons that alpha one does not resemble COPD only that the similar is chronic obstruction to the lungs. We are basal effected in the lung presentation, we are a genetically inherited disease, we are actually a ‘metabolic disease’ as our liver is the primary problem, not the lungs! They are a secondary, they are not given enough if any of the vital gluco protein we cannot express from the liver, as this is part of the genetic problem we inherit from both of the parents a faulty gene from each which equates to ‘full blown alpha’ patients. I was 45 when this hit me out the blue. I had never had a day being sick, was fit and active but I did smoke. Alpha one is serious life shortening and threatening disease, our official life span is 54, many make it past this age, I am actually 55! I was given 2 yrs to live with a 22% fev age 47, our liver is chronically effected and does and can lead to cirrhosis due to the back up of the protein we cannot express into and around our bodies which is the biggest and most needed gluco protein that effects most vital organs and keeps in check inflammation this is a systemic disease…many alpha patients live to age 64 max! Other than the chronic obstruction there is little by way of comparison to COPD…in fact we are more similar in relation to Cystic Fibrosis and equally as deadly. I came back from a death sentence through determination, and self discipline I walk a fine line with alpha one daily…I will need a double lung transplant most probably before I hit 60! Through my determination I have survived this awful disease and I work hard to keep me stable. Very hard. I raised my level from 22% fev to 42 in just over 1 yr. I will never be able to do that again as we are progressive and incurable. Thank you for listening.

  • Tovam
    2 months ago

    Like Flo I was diagnosed at 52 with A1AD emphysema and COPD. This has made a drastic change to my life. And I think it is so important that the COPD community understands the importance of testing for Alpha 1 and understanding the genetic importance of Alpha 1. Because like Flo I was hit out of the blue after being relatively healthy and a fairly light smoker and then all of the sudden one day my breathing became difficult.

  • Leon Lebowitz, BA, RRT moderator
    2 months ago

    Hi Tovam and thanks for chiming in here too. I will underscore everything my colleague, Lyn, has said about your post. We appreciate your concern for the community at large. We also are grateful for your candor in sharing your own personal situation with genetic COPD. Wishing you well, Leon (site moderator)

  • Lyn Harper, RRT moderator
    2 months ago

    Hi Tovam – Thank you for sharing your story with us! You are so right about the importance of getting tested – thank you for reiterating that. I can imagine what a change it’s made in your life, but I’m happy for you that you were tested and can be treated now.
    Best, Lyn (site moderator)

  • Leon Lebowitz, BA, RRT moderator
    3 years ago

    Hi Flo 1 and welcome. We appreciate your candor here on our website. You should feel very proud of all you’ve been able to accomplish and how much you understand about the genetic form of COPD. We’re so glad that you found our community and are pleased that you have taken the time to share your life experiences with the membership.
    If you haven’t as yet, you may want to check out our Facebook page. We are all about COPD.
    You can access it here: https://www.facebook.com/copddotnet/
    Warm regards,
    Leon (site moderator)

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