Alpha-1-Antitrypsin Deficiency

What is Alpha-1-Antitrypsin Deficiency?

Alpha-1-Antitrypsin Deficiency is a genetic disorder that affects how your body protects vital organs. Your liver makes a protein called alpha-1-antitrypsin that shields your lungs and liver from damage. When you have this condition, your body does not make enough of this protective protein.

Without enough alpha-1-antitrypsin, your lungs become vulnerable to damage from irritants and infections. Your liver can also be harmed because abnormal protein builds up inside liver cells. This condition is inherited, meaning it passes from parents to children through genes.

Not everyone with Alpha-1-Antitrypsin Deficiency develops serious health problems. Some people live their entire lives without knowing they have it. Others may develop lung disease similar to emphysema or liver disease at a younger age than expected.

Alpha-1-Antitrypsin, Quantitative

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Symptoms

Many people with Alpha-1-Antitrypsin Deficiency have no symptoms early in life. When symptoms appear, they often affect the lungs or liver.

Shortness of breath during everyday activities
Wheezing or frequent lung infections
Chronic cough that does not go away
Repeated respiratory infections
Unexplained fatigue or weakness
Yellowing of skin or eyes, known as jaundice
Swelling in the abdomen or legs
Weight loss without trying
Reduced exercise tolerance

Some people remain asymptomatic throughout their lives, while others develop symptoms in their 30s or 40s. Symptoms often worsen faster in people who smoke.

Causes and risk factors

Alpha-1-Antitrypsin Deficiency is caused by mutations in the SERPINA1 gene. This gene provides instructions for making the alpha-1-antitrypsin protein. You inherit two copies of this gene, one from each parent. The severity of the condition depends on which gene variants you inherit.

Smoking is the biggest risk factor for developing lung problems if you have this condition. Environmental pollutants, dust, and chemical fumes can also accelerate lung damage. People with a family history of early lung disease or unexplained liver disease should consider testing. Repeated lung infections or liver problems in childhood may also indicate this deficiency.

How it's diagnosed

Alpha-1-Antitrypsin Deficiency is diagnosed with a blood test that measures the amount of alpha-1-antitrypsin protein in your blood. Low levels suggest you may have the condition. Genetic testing can identify which specific gene variants you carry and confirm the diagnosis.

If you have unexplained lung or liver disease, especially at a younger age, talk to a doctor about testing for this condition. Early diagnosis helps you take steps to protect your lungs and liver. Rite Aid offers alpha-1-antitrypsin testing as part of our preventive health approach. Additional specialized genetic testing may be needed to determine your specific gene variants.

Treatment options

Treatment focuses on protecting your lungs and liver from further damage and managing symptoms.

Stop smoking immediately and avoid secondhand smoke exposure
Avoid air pollution, dust, and chemical fumes when possible
Get vaccinated against flu, pneumonia, and hepatitis to prevent infections
Maintain a healthy weight and exercise regularly as tolerated
Limit alcohol consumption to protect your liver
Augmentation therapy with infusions of alpha-1-antitrypsin protein for severe lung disease
Bronchodilators and inhaled medications to improve breathing
Liver transplant in cases of severe liver failure
Regular monitoring with lung function tests and liver function tests

Frequently asked questions

Alpha-1-Antitrypsin Deficiency is a genetic condition where your body does not make enough of a protective protein called alpha-1-antitrypsin. This protein normally shields your lungs and liver from damage. When levels are low, you become more vulnerable to lung and liver disease, especially if you smoke or are exposed to irritants.

Many people have no early symptoms and may not know they have the condition. When symptoms appear, they often include shortness of breath, frequent lung infections, or chronic cough. Some people develop liver problems in childhood or young adulthood. Early detection through blood testing is important because symptoms may not appear until significant organ damage has occurred.

You inherit two copies of the SERPINA1 gene, one from each parent. If both parents carry a faulty gene variant, you have a higher chance of developing the condition. The severity depends on which specific gene variants you inherit. Genetic counseling can help you understand your risk and the risk for your children.

Yes, a simple blood test can measure the amount of alpha-1-antitrypsin protein in your blood. Low levels indicate you may have the deficiency. If your initial blood test shows low levels, genetic testing can confirm the diagnosis and identify your specific gene variants. Early testing is especially important if you have a family history of lung or liver disease.

Testing is recommended for people with unexplained lung disease, especially if diagnosed before age 45. Anyone with a family history of this condition should consider testing. People with unexplained liver disease, chronic bronchitis, or emphysema should also be screened. Early detection allows you to take protective steps before serious organ damage occurs.

There is no cure, but treatment can slow disease progression and improve quality of life. Avoiding smoking and lung irritants is critical. Augmentation therapy provides replacement protein for people with severe lung disease. Liver transplant may be needed in cases of severe liver failure. Early diagnosis and lifestyle changes make a significant difference in outcomes.

Smoking dramatically accelerates lung damage in people with this condition. People with the deficiency who smoke often develop severe lung disease in their 30s or 40s. Non-smokers with the same genetic variants may never develop lung problems or may develop them much later. Quitting smoking is the single most important step you can take to protect your lungs.

Yes, abnormal alpha-1-antitrypsin protein can accumulate in liver cells and cause damage. Some children with the deficiency develop liver problems early in life. Adults may develop cirrhosis or liver failure over time. Regular monitoring of liver function is important for people diagnosed with this condition.

Never smoke and avoid all secondhand smoke exposure. Stay away from air pollution, dust, and chemical fumes when possible. Get recommended vaccines to prevent lung and liver infections. Maintain a healthy weight and stay physically active within your limits. Limit alcohol to protect your liver and follow up regularly with your healthcare provider.

Many people with this condition live long, healthy lives, especially if they avoid smoking and lung irritants. Early diagnosis and proactive health management are key. Some people never develop symptoms, while others may need medication or augmentation therapy. Regular monitoring and healthy lifestyle choices help you stay ahead of potential complications.