Alpha-1 antitrypsin deficiency (AATD) is a rare condition that primarily affects the lungs, and in some people, the liver. It can lead to shortness of breath or frequent lung infections. While there’s no cure, early diagnosis and treatment can help slow lung damage, manage symptoms, and help many people continue doing the things they enjoy. If you or a loved one has been diagnosed with alpha-1 antitrypsin deficiency, understanding the condition is the first step toward getting the right care.
In this guide, we’ll explain what alpha-1 antitrypsin deficiency is, common symptoms, available treatments, and how home infusion therapy may fit into your treatment plan.
In This Article
- What is Alpha-1 Antitrypsin Deficiency?
- What Causes Alpha-1 Antitrypsin Deficiency?
- What are the Signs and Symptoms of Alpha-1 Antitrypsin Deficiency?
- What are the Treatment Options for Alpha-1 Antitrypsin Deficiency?
- What Is Augmentation Therapy?
- How Does Home Infusion Therapy Work for Alpha-1 Antitrypsin Deficiency?
- Tips for Living with Alpha-1 Antitrypsin Deficiency
- Alpha-1 Antitrypsin Deficiency Resources for Patients and Caregivers
- Frequently Asked Questions about Alpha-1 Antitrypsin Deficiency
- CSI Pharmacy Supports Patients with Alpha-1 Antitrypsin Deficiency
What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (AATD) is a rare inherited genetic condition that can affect the lungs, liver, skin, and blood vessels. Normally, your liver produces a protein called alpha-1-antitrypsin (AAT). This protein helps protect your lungs from inflammation and damage caused by smoke, pollution, or other irritants. People with alpha-1 antitrypsin deficiency either don’t produce enough AAT or make a version that isn’t properly formed.
Without enough alpha-1 antitrypsin, the lungs have less protection against everyday irritants like smoke, pollution, and bacteria. Over time, it can increase the risk of chronic lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD).
What Causes Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency is caused by inherited changes (mutations), which means it’s passed down through families. Most people who develop alpha-1 antitrypsin deficiency inherit a changed gene from both parents. Carriers who inherit only one changed gene may never develop symptoms themselves but can still pass the gene to their children.
While you can’t prevent alpha-1 antitrypsin deficiency, certain factors can make lung problems worse. Smoking, secondhand smoke, air pollution, and frequent lung infections can speed up lung damage in people living with alpha-1 deficiency. Avoiding these triggers can help protect your lungs over time.
What are the Signs and Symptoms of Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency symptoms vary from person to person and can develop at any time. Some individuals develop lung disease in their 30s or 40s, while others may not notice symptoms until later in life. Because many symptoms overlap with asthma or COPD, diagnosis is often delayed.
Common lung symptoms of alpha-1 antitrypsin deficiency
- Shortness of breath
- Wheezing
- Chronic coughing
- Frequent respiratory infections
- Reduced ability to exercise
- Fatigue
- Chest tightness
- Unexplained emphysema or COPD, especially at a younger age
Common liver symptoms of alpha-1 antitrypsin deficiency
- Jaundice
- Swelling in the abdomen or legs
- Unexplained liver disease
- Cirrhosis
- Unexplained weight loss
What are the Treatment Options for Alpha-1 Antitrypsin Deficiency?
Treatment for alpha-1 antitrypsin deficiency depends on the severity of the condition and the organs affected.
Your healthcare provider may recommend:
- Plasma-derived augmentation therapy for eligible patients
- Bronchodilator medications
- Inhaled medications
- Pulmonary rehabilitation
- Supplemental oxygen
- Vaccinations to reduce respiratory infections
- Quitting smoking
- Lifestyle changes to protect lung health
Most treatments focus on managing symptoms and protecting lung function. Of these treatment options, augmentation therapy works differently because it addresses the underlying protein deficiency, and it’s the treatment CSI Pharmacy supports through home infusion.
What Is Augmentation Therapy?
Augmentation therapy for alpha-1 antitrypsin deficiency increases the AAT protein levels in the bloodstream through intravenous infusion therapy. The goal is to increase protective protein levels in the bloodstream so they can help to stop damage happening to the lungs.
Treatment is usually administered once a week and is intended for adults with confirmed alpha-1 antitrypsin deficiency and evidence of lung disease.
Although augmentation therapy cannot reverse existing lung damage or cure the condition, studies have shown it can help slow lung damage. Your pulmonologist can determine whether augmentation therapy is right for you.
How Does Home Infusion Therapy Work for Alpha-1 Antitrypsin Deficiency?
Home infusion brings augmentation therapy directly to you. An experienced infusion nurse comes to your home to administer treatment, monitor your response, and answer any questions during the infusion.
At CSI Pharmacy, our team coordinates every step of the treatment process, including:
- Medication delivery
- Insurance and reimbursement support
- Infusion nursing
- Working closely with your healthcare provider
- Patient education
- Regular health checks during treatment
Having infusion therapy at home for alpha-1 antitrypsin deficiency can help reduce travel, lessen disruptions to your routine, and allow you to receive care in a familiar, comfortable environment.
Tips for Living with Alpha-1 Antitrypsin Deficiency
Managing alpha-1 deficiency goes beyond medication. Protecting your lungs and staying connected with your healthcare team can make a meaningful difference over time.
Some ways to support your health include:
- Avoid smoking and secondhand smoke
- Stay up to date on recommended vaccines
- Exercise as recommended by your healthcare provider
- Attend regular appointments with your pulmonologist
- Take medications exactly as prescribed
- Report new or worsening symptoms
Alpha-1 Antitrypsin Deficiency Resources for Patients and Caregivers
Learning you or a loved one has alpha-1 antitrypsin deficiency can come with a lot of questions. Fortunately, there are organizations and resources available to provide support, education, and connection. These organizations and communities are dedicated to helping patients and families navigate their treatment journey.
Alpha-1 Foundation (A1F)
The Alpha-1 Foundation is a leading nonprofit dedicated to finding a cure for alpha-1 antitrypsin deficiency and improving the lives of those affected by it. They provide educational programs for patients, families, and caregivers.
AlphaNet
AlphaNet partners with the Alpha-1 Foundation to connect those diagnosed with alpha-1 antitrypsin deficiency with coordinators who also have alpha-1 antitrypsin deficiency to improve quality of life through support and education.
American Lung Association
The American Lung Association provides education, advocacy, and support for people living with lung-related conditions, including alpha-1 antitrypsin deficiency, along with tools to help patients better understand and manage lung health.
COPD Foundation
The COPD Foundation offers patient education, community support, and advocacy resources for individuals living with Alpha-1-related lung disease.
IVIG & SCIG Support Community
Founded by CSI Pharmacy, the IVIg & SCIg Support Community is a private Facebook group that provides education and support for individuals and caregivers navigating IVIg, SCIg, or plasma-derived infusion treatment. It’s a welcoming space to ask questions, share personal stories, and connect with others managing rare and chronic diseases, like alpha-1 antitrypsin deficiency.
Frequently Asked Questions about Alpha-1 Antitrypsin Deficiency
Is alpha-1 antitrypsin deficiency hereditary?
Yes. Alpha-1 is an inherited genetic condition, passed down when a person receives a changed gene from one or both parents.
Can alpha-1 antitrypsin deficiency be cured?
No, there is currently no cure for alpha-1. However, treatments like augmentation therapy, pulmonary rehabilitation, and lifestyle changes can help slow disease progression and manage symptoms.
Who qualifies for augmentation therapy?
Augmentation therapy is generally intended for adults with confirmed alpha-1 antitrypsin deficiency and evidence of lung disease. A pulmonologist can determine eligibility based on individual diagnostic results.
How often is augmentation therapy given?
Augmentation therapy for Alpha-1 is usually administered once a week through an intravenous infusion.
CSI Pharmacy Supports Patients with Alpha-1 Antitrypsin Deficiency
Living with alpha-1 antitrypsin deficiency can feel overwhelming, but you don’t have to navigate treatment alone. At CSI Pharmacy, we provide more than specialty infusion medications. Our pharmacists, infusion nurses, patient advocates, and reimbursement specialists work together to help patients receive the care they need with confidence.
If you have questions about alpha-1 antitrypsin deficiency treatment, augmentation therapy, or home infusion services, we’re here to help. Contact CSI Pharmacy to learn more about your options.
Medically Reviewed by:
Michele Way, PharmD, IgCP, BCSCP
Michele is a clinical program manager at CSI Pharmacy. She reviewed this article for clinical accuracy on July 2026.
Elizabeth Duruz, CSP, IgCP
Elizabeth is a senior clinical programs manager at CSI Pharmacy. She reviewed this article for clinical accuracy on July 2026.
This article is for informational purposes only and is not a substitute for professional medical advice. Always consult your healthcare provider about your specific diagnosis and treatment options.