Question 1

What is Alpha-1-Antitrypsin Deficiency?

Accepted Answer

Alpha-1-Antitrypsin Deficiency (AATD) is a genetic disorder that prevents the body from producing enough alpha-1-antitrypsin enzyme to protect the lungs and liver from damage. It is caused by inherited mutations in the SERPINA1 gene that reduce production of this protective protein. The Alpha-1-Antitrypsin, Quantitative test is the most important test for diagnosis because it directly measures enzyme levels in the blood to confirm the deficiency.

Question 2

What causes Alpha-1-Antitrypsin Deficiency?

Accepted Answer

Alpha-1-Antitrypsin Deficiency is caused by inherited genetic mutations in the SERPINA1 gene that you receive from both parents. These mutations prevent your liver from making enough alpha-1-antitrypsin enzyme, a protein that normally protects your lungs and liver from inflammatory damage. When you lack this protective enzyme, your lungs become vulnerable to damage from smoking, pollution, or infections, and abnormal protein can accumulate in your liver causing scarring and disease.

Question 3

What is the best test for Alpha-1-Antitrypsin Deficiency?

Accepted Answer

The Alpha-1-Antitrypsin, Quantitative test is the most important test for Alpha-1-Antitrypsin Deficiency because it measures the exact amount of protective enzyme in your blood. Low levels below 11 micromoles per liter typically indicate a deficiency, while levels between 11-20 suggest you might be a carrier. This test is essential for diagnosis because it directly detects the missing enzyme that causes lung and liver problems. If your quantitative test shows low levels, your doctor may order genetic testing to identify which specific mutations you have and assess your risk of developing serious complications.

Question 4

When should I get tested for Alpha-1-Antitrypsin Deficiency?

Accepted Answer

You should get tested if you develop emphysema or chronic lung disease before age 45, especially if you are a non-smoker or light smoker. Testing is also important if you have unexplained liver disease, chronic hepatitis, or cirrhosis at any age, or if you have a family member with confirmed Alpha-1-Antitrypsin Deficiency. You might also consider testing if you have asthma that does not respond well to standard treatments or if you experience shortness of breath and wheezing without an obvious cause.

Question 5

What are the symptoms of Alpha-1-Antitrypsin Deficiency?

Accepted Answer

Lung symptoms include shortness of breath during physical activity, wheezing, chronic cough, and frequent respiratory infections that develop in your 20s to 50s. Liver symptoms can appear in infancy with jaundice and poor feeding, or in adulthood with fatigue, swelling in the legs and abdomen, yellowing of the skin, and unexplained weight loss. Many people with this deficiency have no symptoms for years, particularly if they avoid smoking and lung irritants, which is why family screening is important.

Question 6

Who is at risk for Alpha-1-Antitrypsin Deficiency?

Accepted Answer

People of Northern European, Scandinavian, and Iberian Peninsula descent have the highest risk, with about 1 in 1,500 to 3,500 people affected in these populations. You are at risk if both your parents carry the defective SERPINA1 gene, even if they show no symptoms themselves. Family members of someone diagnosed with AATD should be tested regardless of symptoms. Smokers and people exposed to secondhand smoke, air pollution, or occupational dust and fumes face significantly higher risk of developing severe lung disease if they have this genetic deficiency.

Question 7

What happens if Alpha-1-Antitrypsin Deficiency is left untreated?

Accepted Answer

Untreated Alpha-1-Antitrypsin Deficiency can lead to progressive and irreversible lung damage, including chronic obstructive pulmonary disease and emphysema that worsens over time and causes severe breathing difficulty. Your liver can develop cirrhosis, liver failure, or liver cancer, particularly in adults over 50. Without treatment, lung function steadily declines, leading to disability, oxygen dependence, and significantly shortened life expectancy. Early diagnosis and treatment, including enzyme replacement therapy and avoiding smoking, can slow disease progression and prevent many of these serious complications.

Question 8

Can Alpha-1-Antitrypsin Deficiency be diagnosed with a blood test?

Accepted Answer

Yes, Alpha-1-Antitrypsin Deficiency is diagnosed with a simple blood test that measures the level of alpha-1-antitrypsin enzyme in your bloodstream. The quantitative blood test is the first step and can be done without any special preparation. If your levels are low, genetic testing from the same blood sample can identify the specific SERPINA1 gene mutations you carry. Blood testing is more accurate than symptom assessment alone because many people have the deficiency without obvious symptoms, and lung or liver problems can be mistaken for other conditions.

Question 9

How is Alpha-1-Antitrypsin Deficiency treated?

Accepted Answer

Treatment includes weekly or monthly intravenous infusions of purified alpha-1-antitrypsin enzyme replacement therapy to raise protective enzyme levels in your blood and slow lung damage. Avoiding smoking and secondhand smoke is absolutely critical, as smoking dramatically accelerates lung destruction in people with this deficiency. Your doctor will prescribe bronchodilators, inhaled steroids, and antibiotics for lung infections, while liver disease may require monitoring and potentially liver transplantation in severe cases. Regular vaccinations for flu, pneumonia, and COVID-19 help prevent respiratory infections that can worsen lung function.

Question 10

How can I prevent complications from Alpha-1-Antitrypsin Deficiency?

Accepted Answer

Never smoke and avoid all exposure to secondhand smoke, which is the single most important action you can take to prevent lung disease. Maintain a healthy weight, exercise regularly within your breathing capacity, and avoid environmental irritants like air pollution, chemical fumes, and occupational dust. Get all recommended vaccinations to prevent respiratory infections, practice good hand hygiene, and see your doctor promptly for any breathing problems or respiratory infections. Regular monitoring with pulmonary function tests and liver enzyme checks helps catch complications early when they are most treatable.

Question 11

What can I do at home for Alpha-1-Antitrypsin Deficiency?

Accepted Answer

Practice breathing exercises and pulmonary rehabilitation techniques to strengthen your respiratory muscles and improve lung efficiency. Use a humidifier to keep airways moist, stay well-hydrated to help thin mucus secretions, and perform chest physiotherapy or percussion to clear mucus from your lungs. Eat a nutrient-rich diet with plenty of protein to support liver function and maintain healthy weight, and consider air purifiers with HEPA filters to reduce indoor air pollutants. Join support groups for people with AATD to learn coping strategies, and work with your healthcare team to create an action plan for managing symptom flare-ups at home.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
                In the test options, use the filters or search box to narrow your choices and find the test you want.
                If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
                Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
                If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
                Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
                You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!
                If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
            If you’re not sure which test to get, we can lend a hand in finding the right option.
            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
            After your blood draw, just hang tight and don't worry – we'll keep you updated and in the loop!
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
            Just reach out to us via text at 754-799-7833 or shoot us an email at
            support@privatemdlabs.com. Remember to include your order number and let us know the correct information you’d like to update.
            Our awesome team will jump right in and make sure everything is sorted out and accurate for you.
            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
            Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts.
            This policy applies to all insurance companies, including federal health insurance programs like Medicare.
            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com.

Question 17

Can I cancel my order?

Accepted Answer

Yes.
            We get it – sometimes your needs change.
            As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com.
            You can read more about our cancellation policy here.

Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
            You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp).
            Before you proceed with your order, feel free to browse through all our lab locations here. This will give you the peace of mind of knowing that there's a lab nearby your home, office or your favorite gym.
            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

Alpha-1-Antitrypsin Deficiency Blood Test

What is Alpha-1-Antitrypsin Deficiency?

What causes Alpha-1-Antitrypsin Deficiency?

What is the best test for Alpha-1-Antitrypsin Deficiency?

When should I get tested for Alpha-1-Antitrypsin Deficiency?

References

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