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Does Alpha-1 Antitrypsin Deficiency AATD Cause COPD

Medically reviewed by Adithya Cattamanchi, M.D., Pulmonology — By Daniel Yetman on October 13, 2022

What is alpha-1 antitrypsin deficiency

Chronic obstructive pulmonary disease (COPD) is a group of conditions that cause breathing problems. The two main ones are chronic bronchitis and emphysema. The American Lung Association estimates that about 16.4 million people in the United States have COPD. The top risk factor is smoking. It’s thought that smoking causes about 90% of COPD cases. The other 10% of cases are thought to be caused by factors such as:air pollutiongeneticsbreathing in fumes and dust Researchers have identified alpha-1 antitrypsin deficiency (AATD) as a genetic condition that raises your risk of developing COPD. People with AATD have lungs that are more sensitive to damage from environmental factors such as smoking and pollution. Read on to learn more about the connection between AATD and COPD.

What is AATD

AATD is a genetic condition inherited from your biological parents that causes your body to produce less alpha-1 antitrypsin protein. It increases your risk of:COPDliver diseasepanniculitis, a group of conditions that cause painful bumps under your skinvasculitis, which is inflammation of your blood vessels AATD is caused by a mutation of the SERPINA1 gene. You need to receive a mutated gene from both biological parents to develop AATD. More than 150 mutations of the SERPINA1 gene have been identified. The two most common mutations are called S and Z mutations. The S mutation is associated with moderately low alpha-1 antitrypsin protein and the Z mutation is associated with very low levels. AATD is thought to be present in 1 to 4% of people with COPD. If 16.4 million people in the United States have COPD, roughly 164,000 to 656,000 people have AATD.

How does alpha-1 antitrypsin deficiency cause COPD

The primary function of alpha-1 antitrypsin protein is to protect your lungs from inflammation caused by factors such as:tobacco smokeinfectionsother irritants Research suggests that a type of white blood cell called neutrophils and substances created by neutrophils are key for producing inflammation in the airways of people with COPD. These white blood cells make up about 70% of the white blood cells circulating through your bloodstream. Neutrophils leave your bloodstream and migrate to your lungs to neutralize infections and irritants. Chronic activation of neutrophils can result in chronic lung inflammation. Alpha-1 antitrypsin protein protects your lungs from an enzyme called neutrophil elastase that’s produced by neutrophils in the presence of inflammation as part of their defense mechanism. A side effect of this enzyme is the breakdown of lung tissue. People with AATD produce little to no alpha-1 antitrypsin, which makes them more vulnerable to lung damage.

What are the symptoms of COPD caused by an alpha-1 antitrypsin deficiency

Symptoms of COPD caused by AATD are the same as COPD without AATD, but they tend to develop earlier in life. COPD symptoms in smokers with AATD tend to begin between the ages of 40 and 50. They include:shortness of breathwheezingcoughexcess phlegm productionasthmafatiguechest pain when inhaling

How do doctors diagnose COPD caused by an alpha-1 antitrypsin deficiency

COPD is usually diagnosed with a test called spirometry. During this test, you breathe into a tube connected to a machine that measures how well your lungs are working. A doctor or healthcare professional may also recommend tests to rule out other conditions. These tests include:chest X-rayCT scanarterial blood gas analysisother blood tests A doctor can tell if you have AATD with a genetic blood test. The Global Initiative for Chronic Obstructive Lung Disease recommends AATD testing for all people with COPD and people with a close family member with AATD.

What is the treatment for COPD caused by alpha-1 antitrypsin deficiency

If you have no symptoms, a doctor might recommend regular follow-ups and good general lifestyle habits such as:limiting alcohol consumptionexercising regularlymaintaining a moderate weightreceiving a flu shot every year If you don’t smoke and your lung function is declining quickly, you may be eligible for alpha-1 antitrypsin protein replacement therapy. This treatment is the only specific therapy for AATD and involves IV infusion of alpha-1 antitrypsin protein extracted from human donors. General treatment for COPD symptoms includes:short-acting bronchodilator inhalerslong-acting bronchodilator inhalerssteroid inhalerssteroid tabletsmucolyticsantibiotics for respiratory infections Learn more about COPD medications. Very severe cases of COPD are sometimes treated with lung transplants. People with AATD make up about 5% of lung transplants worldwide.

What s the outlook for someone with COPD caused by alpha-1 antitrypsin deficiency

The outlook for people with AATD varies significantly based on factors such as:the specific gene mutation you havelifestyle habits such as smoking and exerciseexposure to chemicals and irritants Studies suggest that AATD is linked to a 4 to 38% increased chance of developing asthma. Most studies have found no difference in survival rate after lung transplants between people with AATD and COPD and people with only COPD. The outlook for people with AATD is very poor in those who develop cirrhosis.

Frequently asked questions about emphysema caused by AATD

Here are some frequently asked questions people have about AATD.

Can testing confirm an AATD

A doctor can use a blood test to examine your alpha-1 antitrypsin levels and diagnose AATD. The Alpha-1 Foundation encourages testing for people at high risk of AATD such as anyone with COPD, unexplained liver disease, or a family member with AATD.

Can you prevent AATD from leading to COPD

Early identification of AATD allows you to take early COPD preventive measures such as quitting smoking. Smoking is a key risk factor in developing COPD. Quitting is often difficult, but a doctor can help create a cessation plan that works for you.

Can AATD also cause asthma and other lung conditions

People with AATD seem to be at an increased risk of developing asthma. AATD has also been linked to bronchiectasis, a condition characterized by damage and widening of the tubes that carry air into your lungs. Panacinar emphysema is the most specific type of COPD associated with AATD.

Takeaway

AATD is a genetic condition that puts you at risk of developing COPD. People with this condition produce less alpha-1 antitrypsin, a molecule that protects your lungs from damage caused by your immune system as a byproduct of its defense against infections and irritants. You need to receive an atypical SERPINA1 gene from both biological parents to develop AATD. A doctor can test for AATD with a blood test. If you have severe COPD and AATD, a doctor might recommend alpha-1 antitrypsin replacement therapy. Last medically reviewed on October 13, 2022

How we vetted this article

SourcesHistoryHealthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. We avoid using tertiary references. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Abdulkarim A, et al. (2022). Alpha 1 antitrypsin mutation.
ncbi.nlm.nih.gov/books/NBK482180/Alpha-1 antitrypsin deficiency. (2021).
rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiencyChronic obstructive pulmonary disease (COPD). (2019).
nhs.uk/conditions/chronic-obstructive-pulmonary-disease-copd/causes/COPD prevalence. (n.d.).
lung.org/research/trends-in-lung-disease/copd-trends-brief/copd-prevalenceGiacalone VD, et al. (2020). Neutrophil adaptations upon recruitment to the lung: New concepts and implications for homeostasis and disease.
ncbi.nlm.nih.gov/pmc/articles/PMC7038180/Jasper AE, et al. (2019). Understanding the role of neutrophils in chronic inflammatory airway disease.
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lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/learn-about-alpha-1-antitrypsin-defiencyMeseeha M, et al. (2022). Alpha 1 antitrypsin deficiency.
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err.ersjournals.com/content/31/163/210262Monge MB, et al. (2021). Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD.
erj.ersjournals.com/content/58/suppl_65/PA3513Panacinar emphysema. (n.d.).
ncbi.nlm.nih.gov/medgen/78106Pini L, et al. (2021). Alpha1-antitrypsin deficiency and asthma.
journals.lww.com/co-allergy/Abstract/2021/02000/Alpha1_antitrypsin_deficiency_and_asthma.8.aspxSantos G, et al. (2020). Alpha-1 antitrypsin deficiency: An update on clinical aspects of diagnosis and management.
ncbi.nlm.nih.gov/pmc/articles/PMC7886062/Stoller JK, et al. (2020). Alpha-1 antitrypsin deficiency.
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alpha1.org/newly-diagnosed/learning-about-alpha-1/testing-for-alpha-1/Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 13, 2022 By Daniel Yetman Edited By Roman Gokhman Medically Reviewed By Adithya Cattamanchi, MD Copy Edited By Brennan Doherty Share this articleMedically reviewed by Adithya Cattamanchi, M.D., Pulmonology — By Daniel Yetman on October 13, 2022

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