Treatment for Alpha-1 Antitrypsin Deficiency has evolved significantly—and continues to advance rapidly.
From traditional augmentation therapy to emerging gene therapies and novel approaches, this guide covers everything you need to know about current treatments, what's on the horizon, and how to make informed decisions about your care.
Understanding your treatment options empowers you to work with your healthcare team to create the best plan for your unique situation.
Alpha-1 Antitrypsin (AAT) augmentation therapy is the primary, FDA-approved treatment specifically for AATD. It involves regular infusions of purified human AAT protein to raise the level of circulating Alpha-1 Antitrypsin in the body, restoring the protease/antiprotease balance.
Think of it as:
Currently, there are four FDA-approved medications for AAT augmentation therapy:
The Science:
What It Does:
What It Doesn't Do:
Approved For:
Traditional Exclusion Criteria:
Arguments for Earlier/Broader Treatment:
Prevention vs. Waiting for Damage:
Systemic Benefits Beyond Lungs:
Mark's Vision:
"It is Mark and the Foundation's dream that Alpha1 Antitrypsin becomes the equivalent of the safest and healthiest 'vaccine type' treatment many individuals could receive throughout their entire lifetime."
Current Reality:
Pros:
Cons:
Typical Process:
Pros:
Cons:
Requirements:
Process:
Currently in Clinical Trials:
During/Immediately After Infusion:
Management:
Injection Site Issues:
Management:
Allergic Reactions:
Action: Stop infusion immediately, seek emergency care
Viral Transmission Risk:
IgA Deficiency Concern:
Ongoing Monitoring:
Vein Health:
Annual Cost:
Why So Expensive:
Most insurance plans cover AAT therapy when:
Challenges:
Medicare Coverage:
Pharmaceutical Company Programs:
General Assistance:
Getting Help:
Purpose: Open airways, reduce breathlessness, improve lung function
Types:
Short-Acting Beta-Agonists (SABAs):
Long-Acting Beta-Agonists (LABAs):
Short-Acting Anticholinergics:
Long-Acting Anticholinergics (LAMAs):
Combination Inhalers:
Purpose: Reduce airway inflammation
Common Options:
Use: Maintenance therapy, typically twice daily
Note: Controversial in AATD—some evidence suggests less benefit than in other COPD, but individual response varies
Purpose: Reduce inflammation during exacerbations
Common: Prednisone, methylprednisolone
Use: Short courses (5-10 days) for acute worsening, NOT long-term due to side effects
Roflumilast (Daliresp)
Purpose: Thin mucus, make it easier to cough up
Guaifenesin (Mucinex):
N-Acetylcysteine (NAC):
Purpose: Treat bacterial lung infections
When Used:
Common Options:
Purpose: Maintain adequate blood oxygen levels
Indications:
Delivery Systems:
Duration:
No Specific Medication for AATD Liver Disease:
Strategies:
Lifestyle Modifications:
Treating Complications:
Liver Transplantation:
Approach Depends on Specific Condition:
Rheumatoid Arthritis, Lupus, Other Autoimmune Diseases:
AATD Consideration:
Anti-Inflammatory Strategies:
What It Includes:
Benefits:
Duration: Typically 6-12 weeks, 2-3 sessions per week
Location: Hospital-based, outpatient centers, some home programs
Insurance: Usually covered with referral
For Severe Emphysema in Select Patients:
When Considered:
Process:
Types:
Outcomes:
Considerations:
Goal: Correct the genetic defect causing AATD
Approaches:
Status: Multiple clinical trials ongoing
Potential Benefits:
Challenges:
Recombinant AAT:
Plant-Based Production:
Transgenic Animal Production:
Rationale: Deliver AAT directly to lungs where needed most
Status: Clinical trials with mixed results
Advantages:
Challenge: Protein degraded by digestive system
Approaches Being Investigated:
Goal: Drugs that enhance AAT production or function
Approaches:
Status: Preclinical and early clinical research
Goal: Replace AAT-deficient cells with normal cells
Approaches:
For Liver Disease Specifically:
Important Note: These should complement, not replace, standard medical care. Discuss with your physician before starting any complementary therapy.
Anti-Inflammatory Diet:
Adequate Protein:
Antioxidants:
Hydration:
N-Acetylcysteine (NAC):
Vitamin D:
Omega-3 Fatty Acids:
Vitamin C and E:
Coenzyme Q10 (CoQ10):
Probiotics:
ALWAYS discuss supplements with physician—can interact with medications
Yoga:
Tai Chi:
Meditation & Mindfulness:
Breathing Techniques:
Important Questions to Ask:
About AAT Augmentation Therapy:
About Other Treatments:
General:
Traditional Approach:
Preventive Approach (Mark Egly Foundation Advocacy):
Factors to Consider:
Primary Goals:
Setting Realistic Expectations:
Why It Matters:
Strategies for Adherence:
Regular Assessments:
Self-Monitoring:
Signs Your Treatment May Need Adjustment:
Strategies:
AATD Organizations:
Pharmacy Patient Support:
Clinical Trials:
Treatment for AATD has never been more hopeful:
✅ Four FDA-approved augmentation therapies available now
✅ Gene therapy in clinical trials - potential cure on horizon
✅ Alternative AAT production methods in development
✅ Growing understanding of systemic benefits
✅ Advocacy for earlier treatment gaining traction
✅ Novel delivery methods being investigated
✅ Research into autoimmune and inflammatory connections
✅ Improved lung transplant outcomes
The standard of care is evolving rapidly.
The Mark Egly Foundation is at the forefront of advocating for:
You are not a passive recipient of medical care—you are an active partner in your treatment decisions.
Empower yourself:
Your treatment plan should reflect your values, goals, and circumstances—not just a one-size-fits-all protocol.
Questions about treatments? Need help navigating decisions?
Mark Egly Foundation Resources:
AlphaNet (FREE Case Management):
Alpha-1 Foundation:
Traditional treatments offer protection. Emerging therapies offer hope. Your active participation offers the best outcomes.
Together, we're not just treating AATD—we're transforming what's possible for everyone affected by Alpha-1 Antitrypsin Deficiency.
Last Updated: December 2025
This information is for educational purposes and should not replace consultation with your healthcare providers.