What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin (AAT) deficiency is a genetic disease where your body doesn’t make enough normal functioning AAT. AAT is a protein your liver makes. AAT has many important roles in your body, including reducing inflammation and protecting your lungs from damage.
You have a higher risk of lung and liver disease when you have AAT deficiency. People with AAT deficiency may develop chronic obstructive pulmonary disease (COPD), emphysema, bronchiectasis, asthma, or cirrhosis (liver scarring). In AATD, your liver makes misshapen AAT proteins. The misshapen proteins can build up in your liver cells and damage your liver. This buildup leads to long-term injury, which can result in cirrhosis, liver failure, and sometimes liver cancer.
How Common is Alpha-1 Antitrypsin Deficiency?
Up to 5% of people carry the gene change (mutation) that causes AAT deficiency. However, having the gene mutation doesn’t necessarily mean you’ll develop lung or liver problems.
Around 1 in 3,000–5,000 people in the United States have a severe alpha-1 antitrypsin deficiency. Many are undiagnosed, especially if they don’t have symptoms until adulthood. Sometimes, liver damage may progress silently for years before symptoms appear.
Alpha-1 Antitrypsin Deficiency Risk Factors
AAT deficiency occurs because you have a mutation in the SERPINA1 gene, which tells the liver to make the AAT protein. When these instructions are wrong, the AAT protein gets misfolded and trapped inside liver cells, causing damage over time.
Not everyone with AAT deficiency develops symptoms. Environmental and lifestyle factors, like smoking or alcohol use, can influence whether a person develops lung or liver complications. Some people are more likely to have liver damage, others lung disease. Some people have both.
Usually, people who develop lung problems from AAT deficiency also have other reasons for lung inflammation:
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Smoking
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Environmental exposures, such as air pollution
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Occupational exposures, such as coal dust or asbestos
Alpha-1 Antitrypsin Deficiency and Genetic Testing
Your genes come in pairs. AAT deficiency is more likely when both SERPINA1 genes have a mutation. People with only one mutation are considered carriers. A carrier of the mutation may not have symptoms, but they can pass the gene to their children. Carriers may still be at higher risk of liver or lung disease, especially if they have other risk factors or other liver or lung conditions.
Genetic testing for alpha-1 antitrypsin deficiency helps identify these mutations. Genetic testing is often used alongside blood tests to confirm a diagnosis.
Are You Born with Alpha-1 Antitrypsin Deficiency?
The gene mutations causing AAT deficiency are there when you’re born. You usually don’t develop symptoms until you’re an adult, if you ever have symptoms at all.
People in their 40s and 50s who smoke or have other toxic exposures may start developing lung symptoms. People who don’t smoke and haven’t had other significant exposures may develop symptoms in their 60s and 70s.
Liver symptoms may occur earlier in life, including infancy or childhood. They also may not appear until adulthood.
Alpha-1 Antitrypsin Deficiency Symptoms
AAT deficiency can lead to a range of respiratory symptoms:
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Coughing
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Repeat lung infections
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Shortness of breath
The deficiency can cause a range of liver symptoms:
- Abdominal swelling from fluid buildup (ascites)
- Confusion or memory problems (a sign of toxin buildup)
- Easy bruising or bleeding
- Fatigue or weakness
- Unexplained weight loss
- Yellowing of the skin or eyes (jaundice)
Not everyone with AAT deficiency develops liver problems. But it's important to monitor your liver health over time, especially if you have a family history of AAT deficiency or abnormal liver tests.
Diagnosing Alpha-1 Antitrypsin Deficiency
An AAT deficiency diagnosis often happens after you develop lung disease or have an abnormal liver test. Most providers don't look for AAT deficiency unless you have symptoms or have lung or liver disease. Many people get a referral to a specialist after they have unexplained respiratory symptoms or routine blood work shows elevated liver enzymes. Individuals with a family history of AATD or lung and liver disease are also tested.
A pulmonologist (lung specialist) asks about your symptoms and health history. They also use several tests:
Chest X-rays to look at your lung structure and check for damage
Pulmonary function tests to check how well your lungs work
Your pulmonologist may test for AAT deficiency if you have COPD, severe asthma, or bronchiectasis—a condition that causes airway damage. They may use a simple blood test to measure your AAT levels. They may also use genetic testing:
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Genotype tests identify gene mutations.
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Phenotype tests identify blood proteins.
A hepatologist (liver specialist) also asks about your symptoms and health history. They may use several tests to understand liver function:
- Blood test to measure AAT protein levels
- Liver biopsy to confirm the diagnosis or assess liver damage severity
- Liver enzyme panels and imaging (such as ultrasound or FibroScan) to assess liver health
- Phenotype or genotype testing to identify specific gene mutations
In some cases, advanced fibrosis or liver cirrhosis may be the first sign of undiagnosed AAT deficiency.
AAT deficiency is complex. Knowing which tests to use and how to interpret them is important. Our team includes pulmonologists and hepatologists with the experience and skills to diagnose AAT deficiency.
Find an Alpha-1 Antitrypsin Deficiency Specialist
Alpha-1 Antitrypsin Deficiency Treatment
Treatment depends on whether the condition affects your lungs, liver, or both. Your pulmonologist or hepatologist will create a personalized treatment plan. There is no cure for AAT deficiency, but lifestyle changes and close monitoring can reduce the risk of serious complications.
Lung Treatments
Many AAT deficiency treatments are the same as other lung disease treatments:
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Bronchodilators—This type of inhaler relaxes the muscles in your airway. You may use a bronchodilator regularly or only when you experience symptoms.
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Inhaled corticosteroids—These medications decrease inflammation in your airways. You may take inhaled corticosteroids along with other treatments.
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Combination medicines—You may use an inhaler that contains more than one medication.
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Pulmonary rehabilitation—Exercise, education, and nutrition guidance help you improve your lung health and reduce symptoms.
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Oxygen therapy—You breathe extra oxygen through a mask or nose tubes. The mask or tubes connect to a machine with an oxygen tank.
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Endoscopic lung volume reduction—A pulmonologist places a valve inside your lung. It directs air away from damaged portions of your lungs.
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Lung transplant—A transplant surgeon replaces one or both of your lungs with healthy donor organs. Lung transplant is only necessary in severe cases.
Augmentation Therapy
People with lung disease due to AAT deficiency may also get augmentation therapy. In augmentation therapy, you get a weekly blood infusion of AAT protein. This temporarily increases your AAT levels. It helps protect your lungs from further damage. This therapy does not treat liver disease.
Liver Monitoring and Support
There is no FDA-approved treatment to reverse liver damage from AAT deficiency. However, regular liver checkups are essential. Your hepatologist may recommend lifestyle changes:
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Avoid alcohol and medications that stress the liver.
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Eat a Mediterranean-style diet.
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Get regular physical activity.
They may also suggest regular screenings:
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Blood tests to monitor liver function
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Early screening and treatment for liver cancer in high-risk individuals
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Periodic liver imaging and non-invasive fibrosis assessments
Liver Transplant
A liver transplant may be the best option if you have advanced liver disease or liver cancer. A liver transplant is a surgical procedure that replaces your damaged liver with a healthy one. A transplant can correct AAT protein deficiency. Â鶹ѧÉú¾«Æ·°æ offers liver transplants for patients with advanced liver disease from AAT deficiency.
Life Expectancy with Alpha-1 Antitrypsin Deficiency
Knowing you have AAT deficiency helps you stay on top of managing your health. With early diagnosis, lifestyle changes, and appropriate medical care, life expectancy can be normal.
You can also lower your risk factors:
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Avoid environmental or occupational exposures.
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Avoid alcohol.
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Get vaccinations that protect you from severe lung infections.
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Quit smoking.
People with advanced liver or lung disease may eventually need organ transplants. These procedures can extend life and improve quality of life. Lowering your risk factors significantly reduces the chances of developing lung or liver problems that affect life expectancy or require a transplant.
Why Choose Â鶹ѧÉú¾«Æ·°æ?
U of U Health is an Clinical Resource Center. Medical centers with this designation offer specialized care, resources, and information for patients with alpha-1 antitrypsin deficiency.
In some cases, clinical trials provide access to innovative approaches that are not yet widely available. Availability and eligibility to participate in clinical trials vary. Talk with your specialist about possible research and whether you are a candidate.
Our multispecialty team includes specialists in pulmonology, pharmacy, and respiratory therapy. They have expertise in AAT deficiency and its specific treatments. We also work closely with hepatologists (liver specialists) to treat patients who have liver problems associated with AAT deficiency. We provide comprehensive, leading-edge treatment, including through clinical trials.
Make an Appointment
To schedule a visit with a pulmonologist or hepatologist, call 801-581-5943. We don’t need a referral to see you, but some insurance plans may require one. Contact your insurance provider to confirm coverage and referral policies.
