Alpha-1 Antitrypsin Deficiency
What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 Antitrypsin Deficiency is a genetic disorder that affects your liver and lungs. Your body does not make enough of a protein called alpha-1 antitrypsin. This protein normally protects your lungs from damage and helps your liver function properly.
When levels are too low, your lungs become vulnerable to irritants like smoke and pollution. Your liver may also store abnormal proteins that build up over time. This buildup can damage liver cells and lead to scarring or cirrhosis.
The condition is inherited, meaning it passes from parents to children through genes. Many people with mild forms live normal lives without knowing they have it. Others develop serious lung or liver problems that require ongoing care and monitoring.
Symptoms
- Shortness of breath, especially during physical activity
- Wheezing or chronic cough that does not go away
- Frequent respiratory infections or lung problems
- Fatigue and low energy levels
- Yellowing of the skin or eyes, called jaundice
- Swelling in the abdomen or legs from fluid buildup
- Unexplained weight loss
- Early-onset emphysema, often before age 45
Some people have no symptoms for years or decades. The condition can remain silent until lung or liver damage becomes significant. Early detection through blood testing helps catch problems before symptoms appear.
Concerned about Alpha-1 Antitrypsin Deficiency? Check your levels.
Screen for 1,200+ health conditions
Causes and risk factors
Alpha-1 Antitrypsin Deficiency is caused by mutations in the SERPINA1 gene. You inherit one copy of this gene from each parent. If both copies have mutations, you produce very low levels of the protective protein. People with one mutated gene are carriers and usually do not develop severe symptoms.
Smoking dramatically worsens lung damage in people with this condition. Environmental exposures like chemical fumes, dust, and air pollution also accelerate lung disease. Chronic liver disease can develop even without lung symptoms, especially in children and older adults. Obesity and alcohol use increase the risk of liver complications.
How it's diagnosed
Diagnosis starts with a blood test that measures alpha-1 globulin levels. Low levels suggest the deficiency and prompt further testing. Liver enzyme tests like ALT and AST help detect liver damage from abnormal protein buildup. Elevated ALT and AST levels indicate hepatocellular injury and can signal progression to cirrhosis.
Rite Aid offers blood testing that screens for alpha-1 globulin, ALT, and AST as part of our flagship panel. These biomarkers help identify the condition early and monitor liver health over time. Your doctor may also order genetic testing to confirm the specific mutation and assess disease severity.
Treatment options
- Stop smoking immediately to prevent lung damage
- Avoid exposure to secondhand smoke, dust, and chemical fumes
- Get vaccinated against flu, pneumonia, and hepatitis to protect your lungs and liver
- Maintain a healthy weight through balanced nutrition
- Limit alcohol consumption to reduce liver stress
- Augmentation therapy with infusions of alpha-1 antitrypsin protein for severe lung disease
- Medications like bronchodilators to improve breathing
- Regular liver monitoring with blood tests to detect early damage
- Liver transplant in cases of advanced cirrhosis or liver failure
Concerned about Alpha-1 Antitrypsin Deficiency? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Alpha-1 Antitrypsin Deficiency is a genetic condition where your body does not produce enough alpha-1 antitrypsin protein. This protein protects your lungs and liver from damage. Low levels increase your risk of lung disease like emphysema and liver problems like cirrhosis.
Early signs include shortness of breath during exercise and frequent lung infections. Some people develop a chronic cough or wheezing that does not improve. Many individuals have no symptoms until significant lung or liver damage occurs, which is why screening is important.
Diagnosis begins with a blood test measuring alpha-1 globulin levels. Low levels suggest the deficiency. Doctors also check liver enzymes like ALT and AST to assess liver damage. Genetic testing confirms the specific mutation and helps determine disease severity.
There is no cure, but the condition can be managed effectively. Augmentation therapy replaces the missing protein in people with severe lung disease. Avoiding smoking and environmental irritants prevents further damage. Liver transplantation may be necessary for advanced liver failure.
Yes, it is an inherited genetic disorder. You receive one gene copy from each parent. If both copies have mutations, you develop the deficiency. People with one mutated gene are carriers and usually remain healthy but can pass the gene to their children.
Smoking dramatically accelerates lung damage in people with this condition. It destroys lung tissue faster and increases the risk of early emphysema. Quitting smoking is the single most important step to protect your lungs. Even secondhand smoke exposure should be avoided completely.
Alpha-1 globulin levels are the primary screening test. Low levels indicate possible deficiency. ALT and AST tests measure liver enzymes and detect liver damage from protein buildup. Regular monitoring of these biomarkers helps track disease progression and liver health.
Many people with mild forms live normal, healthy lives. Avoiding smoking and irritants protects your lungs. Regular blood testing and medical monitoring catch problems early. Those with severe forms may need augmentation therapy or lifestyle modifications but can still maintain good quality of life.
Stop smoking and avoid all lung irritants like dust and chemical fumes. Stay current on vaccinations to prevent infections. Maintain a healthy weight and limit alcohol to protect your liver. Regular exercise improves lung function and overall health when done safely.
Testing frequency depends on your symptoms and disease severity. Most people benefit from liver enzyme testing every 6 to 12 months. This monitors for liver damage and progression. Your doctor may recommend more frequent testing if liver enzymes are elevated or if you develop new symptoms.