Genetic COPD
Alpha-1 antitrypsin deficiency (AATD) is the most common genetic factor associated with COPD, yet 90% of those affected remain undiagnosed. Early diagnosis of Genetic COPD can slow disease progression, prevent complications, and improve quality of life.
YOU can help find the missing millions of people who have Genetic COPD!
Learn More About Alpha-1 Antitrypsin Deficiency
Pathophysiology Overview:
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder where the liver produces defective alpha-1 antitrypsin (AAT) proteins. Normally, AAT protects lung tissue from damage by enzymes like neutrophil elastase. In AATD, these misfolded proteins get trapped in the liver, causing liver damage and reducing AAT levels in the bloodstream, which compromises lung protection. This condition primarily affects the liver and lungs.
Normal (MM): No disease indication, with two normal AAT genes producing healthy protein levels.
Carrier (MZ or MS): One altered AAT gene, may cause mild to moderate deficiency, but not at significant increased risk for disease.
Deficient (SS): Two altered AAT genes, but not at significant increased risk for disease.
Deficient (SZ or ZZ): Two altered AAT genes, can result in moderate to severe deficiency and a higher risk of developing disease.
Null (N): No detectable AAT in the plasma, which can lead to severe deficiency and increased disease risk.
Clinical Presentations May Include:
Lung:
- Shortness of breath/wheezing
- Chronic bronchitis/recurring respiratory infections
- Bronchiectasis
- Emphysema
- Reduced exercise tolerance/fatigue
Liver:
- Unexplained liver disease
- Jaundice
- Ascites
- Edema
Other manifestations:
- Panniculitis
- Granulomatosis
Clinical Practice Guidelines:
Additional clinical practice guidelines can be found on the websites of the American Thoracic Society (ATS) and the Global Initiative for Chronic Obstructive Lung Disease (GOLD).
Health Care Provider Resources
Presentations:
Our "Genetic COPD 101" presentation offers a comprehensive introduction to pathophysiology, diagnosis, and treatment of alpha-1 antitrypsin deficiency. This resource also includes educational materials to help you communicate effectively with your patients about the importance of screening, the hereditary aspects of genetic COPD, essential lifestyle changes, and other key topics.
Videos
Interactive Courses
Time to complete course: 10 minutes
Available in English and Spanish
- What is Genetic COPD (Alpha-1 antitrypsin deficiency)
- Pathophysiology and clinical presentation
- Diagnosis and treatment
Podcasts
The COPD Foundation Podcast is a health series focused on living well with lung conditions such as COPD, Bronchiectasis, NTM, and Alpha-1. In our dedicated HCP episodes hear from experts on topics related to, diagnosis and management, innovation and much more.
Portions of the educational materials on this page are sponsored by Grifols.