What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Antitrypsin Deficiency—often just called AATD—is a genetic condition that can affect the lungs and liver. It happens when your body doesn’t make enough of a certain protein (alpha-1 antitrypsin) that helps protect these organs from damage. Without enough of this protein, the lungs and liver become more vulnerable over time.

While it may sound overwhelming, you’re not alone—and understanding the basics is the first step toward managing it. Common signs include shortness of breath, frequent lung infections, or liver problems, though symptoms can vary from person to person. The good news is that an early diagnosis and the right care can make a big difference in protecting your health.

Overview of the Condition

AATD is a genetic condition that affects how your body makes a protective protein. When your body doesn’t produce enough of this protein, your lungs and liver don’t get the protection they need, leaving them more vulnerable to long-term damage. Over time, this can lead to lung or liver disease, or sometimes both.

What is Alpha-1 Antitrypsin?

Alpha-1 Antitrypsin is like a natural shield for your lungs. Its main job is to keep a powerful enzyme called neutrophil elastase in check.

This enzyme helps fight infection, but if it’s not balanced, it can start breaking down healthy lung tissue. That’s where Alpha-1 Antitrypsin steps in—to protect and preserve your lung health.

When levels of this protein are normal, your body has the balance it needs to repair and protect delicate airways and air sacs. But when there isn’t enough, the lungs can become inflamed and gradually damaged. This makes it harder to breathe over time and can lead to serious respiratory challenges.

Signs and Symptoms

Catching the signs of AATD early can make a big difference in how well the condition is managed. Symptoms usually develop slowly and can affect more than one part of the body, though the lungs and liver are most often impacted.

At California Specialty Pharmacy, we’re here to support patients and families living with AATD by providing personalized care and therapies designed to help manage symptoms and protect long-term health.

Lungs:

Lung-related issues are the most common signs of AATD. Shortness of breath is often the first thing people notice—maybe you feel winded more easily during daily activities like climbing stairs or walking longer distances.

Other symptoms can include:

A chronic cough that doesn’t seem to go away
Wheezing or a feeling of tightness in the chest
Frequent respiratory infections

Over time, these problems can progress and sometimes lead to emphysema at a younger age than what’s typically expected in people who smoke.

Liver and Skin:

AATD can also affect the liver, sometimes starting in infancy but also showing up later in life. In babies, signs may include long-lasting jaundice, poor weight gain, or an enlarged liver. In adults, symptoms may include:

Fatigue
Abdominal swelling
Yellowing of the skin and eyes (jaundice)

Although less common, AATD can also cause skin problems, such as panniculitis. This condition may look like:

Painful red lumps or nodules under the skin
Patches that can break down into open sores
Areas of skin that are slow to heal

Genetic Causes and Inheritance

Alpha-1 Antitrypsin Deficiency is caused by changes, or mutations, in a gene called SERPINA1. This gene gives your body the instructions to make the AAT protein, which helps protect your lungs and liver.

Even small changes in this gene can lower the amount of protein your body makes, which can affect how well your organs are protected.

Because AATD is inherited, understanding how it’s passed down through families is an important part of knowing your risk and supporting an early diagnosis.

Gene Variants and Inheritance

Your genetic makeup, also called your “genotype,” plays a big role in whether AATD symptoms develop and how severe they might become.

The “typical” genotype is called MM, which makes the full amount of protective protein. When mutations are present, different combinations of the gene can result in reduced protein levels, which may increase the chance of lung or liver problems.

Other Risk Factors

Genetics are only part of the picture. Environmental exposures can make AATD symptoms appear earlier or progress more quickly. The most important risk factor is smoking or vaping, which can speed up lung damage by 10–15 years in people with AATD. Other triggers can include:

Workplace dust or fumes
Chemical exposure
Air pollution

Making healthy lifestyle choices (like avoiding smoke and limiting environmental triggers) can help protect your lungs and slow the progression of symptoms.

How is AATD Diagnosed?

Getting a clear Alpha-1 Antitrypsin Deficiency diagnosis starts with knowing when testing might be needed. Doctors usually recommend screening if you:

Develop emphysema before age 45
Have a family history of AATD
Experience unexplained liver disease at any age

CSP is recognized as a leading specialty pharmacy for managing AATD, offering coordinated care and 24/7 patient support to make the diagnostic process less overwhelming.

Blood and Genetic Tests

The first step is usually a blood test to measure alpha-1 antitrypsin protein levels. Levels below roughly 11 micromoles/L (about 57 mg/dL) suggest a deficiency.

Genetic testing can confirm the diagnosis by identifying your specific AAT genotype. Severe deficient genotypes—like PI*ZZ—combined with low serum levels are how doctors definitively diagnose AATD.

These tests can be done through targeted genotyping or isoelectric focusing, giving a clear picture of your inherited risk.

Imaging and Lung Function

To understand how AATD affects your body, doctors may also order:

Pulmonary Function Tests (PFTs): Check how well your lungs are working and detect early obstruction.
Chest X-rays or CT scans: Show areas of emphysema, especially in the lower lobes.
Liver ultrasound or biopsy: Evaluate liver health and detect potential complications.

Combining blood results, genetic testing, and imaging helps your healthcare team understand both the presence of AATD and its severity, so they can guide you toward the most effective treatment plan.

AATD is often misdiagnosed because it shares many signs and symptoms with other obstructive lung diseases such as chronic obstructive pulmonary disease (COPD). According to the 2025 GOLD Guidelines, all patients diagnosed with COPD (regardless of age or ethnicity) should be tested for AATD.

What Are the Current Treatment Options for AATD?

Managing AATD is highly personalized. The best approach depends on each person’s symptoms, disease severity, and overall health. Modern therapies can help slow lung and liver damage, improve quality of life, and support daily functioning. California Specialty Pharmacy provides access to these therapies in a comfortable clinical setting or from the comfort of your own home, helping you feel supported at every step.

Augmentation Therapy

For lung disease caused by AAT deficiency, intravenous augmentation therapy is the main treatment. This involves weekly intravenous infusions of purified AAT protein from donated plasma. The goal is to raise AAT levels above about 11 μM, a threshold that helps protect lung tissue from further damage.

Because the infused protein only lasts about 4–5 days in the body, treatment is ongoing, usually indefinitely. Several FDA-approved AAT therapies are available and have been shown to slow the decline of lung function.

Intravenous augmentation therapy is NOT recommended for individuals with:

MZ genotype of AATD
Lung disease due to AATD who continue to smoke
Emphysema or bronchiectasis without airflow obstruction
Treatment of liver disease due to AATD
Liver transplantation

Common Medications

Drug (Generic)	Brand	Route	Indication
Alpha1-Proteinase Inhibitor	Aralast NP	IV	In patients with severe congenital A1-Pl deficiency who have clinically evident emphysema
	Glassia	IV
	Prolastin-C	IV
	Zemaira	IV

Supportive Therapies and Medications

But treating AATD goes beyond infusions. Many patients benefit from supportive strategies that help address specific symptoms:

Breathing support: Bronchodilators open airways, while inhaled corticosteroids reduce inflammation.
Pulmonary rehabilitation: Structured exercise and respiratory muscle training improve stamina and make daily activities easier.
Liver care: For those with liver involvement, medications, diet changes, and regular monitoring help protect liver health.

Combining augmentation with supportive therapies helps patients maintain lung and liver function, stay active, and enjoy a better quality of life.

Living with AATD

Managing life with Alpha-1 Antitrypsin Deficiency means protecting your health while staying active and engaged in the life you enjoy. Many people with AATD lead full, meaningful lives by making informed choices and staying proactive about their care.

Lifestyle and Monitoring

One of the most important steps you can take is avoiding tobacco smoke and other lung irritants. If you smoke, quitting can add years to your life and slow lung damage. Even secondhand smoke at home or work can impact your lungs, so creating a smoke-free environment is key.

Regular activity is also valuable. Walking, swimming, or gentle yoga can help maintain lung strength and overall fitness without overexerting yourself. Consistent exercise supports your respiratory system and contributes to overall well-being..

Support and Resources

Having a support network can make a big difference. Patient advocacy groups provide educational materials, peer connections, and updates on AATD research or clinical trials that may be relevant to you.

CSP is recognized for compassionate care, expert infusion services, and a collaborative approach to managing chronic conditions. Beyond delivering medications, we help patients navigate their care journey, offering guidance and resources every step of the way.

Online communities can also be a helpful space to share experiences, tips, and encouragement with others facing similar challenges.

Taking Control of Your Condition

Living with Alpha-1 Antitrypsin Deficiency definitely comes with its challenges, but understanding your condition and taking an active role in your care can help you maintain a full and meaningful life. Early diagnosis and appropriate treatment—especially augmentation therapy for those with severe deficiency—can slow disease progression and help preserve lung function.

Remember: AAT deficiency doesn’t define your future. With the right support, therapies, and daily habits, many people continue to work, travel, and enjoy their favorite activities. Advances in research and treatment offer ongoing hope for even better care options in the years ahead.

CSP is here to guide you every step of the way. From personalized infusion services to care coordination and resources, we help you access the treatments you need while providing the support to live well with AATD. Reach out today to learn how CSP can help you take control of your health.

Frequently Asked Questions (FAQ):

What happens if you have alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency means your body doesn’t make enough of a protein that protects your lungs and liver. Without enough of this protein, you may experience breathing difficulties, lung damage, or liver problems over time. Early detection and management can make a big difference.

What is the best treatment for alpha-1 antitrypsin deficiency?

The main treatment is intravenous augmentation therapy, which helps boost protein levels in your blood. Alongside this, lifestyle changes—like quitting smoking and avoiding lung irritants—can help protect your lungs and improve long-term health.

What is the function of a1 antitrypsin?

Alpha-1 antitrypsin acts like a shield for your lungs. It blocks enzymes that can damage lung tissue and also helps reduce inflammation, keeping your airways healthier for longer.

At what age does alpha-1 antitrypsin deficiency start?

Lung symptoms usually appear between 20 and 50 years old, while liver issues can show up earlier—even in infancy. Symptoms vary, which is why early testing is so important.

References:

Cleveland Clinic. (2025). Alpha-1 antitrypsin deficiency.
https://my.clevelandclinic.org/health/diseases/21175-alpha-1-antitrypsin-deficiency
MedlinePlus. (2021). Alpha-1 antitrypsin deficiency.
https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/
Alpha-1 Foundation. (n.d.). What is Alpha-1?.
https://alpha1.org/what-is-alpha1/
National Organization for Rare Disorders (NORD). (2024). Alpha-1 antitrypsin deficiency.
https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/#causes
Global Initiative for Chronic Obstructive Lung Disease (GOLD). (2024). 2025 GOLD Report.
https://goldcopd.org/wp-content/uploads/2024/11/GOLD-2025-Report-v1.0-15Nov2024_WMV.pdf

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