Emphysema
Education on emphysema and hereditary emphysema linked to Alpha-1 Antitrypsin Deficiency, including testing and care pathways.
Research status: Established clinical knowledge
Established AATD education
Severe Alpha-1 Antitrypsin Deficiency is a recognized genetic cause of early emphysema and COPD. This page is educational and is not a substitute for medical advice. Work with your clinician for diagnosis and treatment.
What is emphysema?
Emphysema is a form of lung damage in which the tiny air sacs (alveoli) break down. Breathing out becomes harder, and oxygen exchange declines. Emphysema is a major component of COPD.
Hereditary emphysema and Alpha-1 (established)
When people search for "hereditary emphysema" or "emphysema causes," one established genetic answer is Alpha-1 Antitrypsin Deficiency (AATD). Without enough working Alpha-1 Antitrypsin, neutrophil elastase can injure lung tissue over years. Damage may appear earlier than typical smoking related emphysema and can occur in never smokers.
This is established AATD lung disease education, not a research hypothesis. Always confirm diagnosis and treatment with your clinician.
Emphysema causes people ask about
- Smoking and secondhand smoke
- Occupational dusts and fumes
- Repeated lung infections
- Genetic AATD (hereditary emphysema pathway)
If emphysema appears young, runs in families, or occurs with little smoking history, ask about AAT testing.
Symptoms and next steps
Shortness of breath, reduced exercise tolerance, chronic cough, and frequent bronchitis like illnesses are common. Use our symptoms page and self-check for education only.
Testing
Serum AAT level plus genotype or phenotype testing can identify AATD. See genetic testing for COPD and AATD diagnosis and testing.
Treatment education
Pulmonary care for emphysema follows COPD pathways. For severe AATD with emphysema, specialists may discuss augmentation therapy. Learn more on medications and treatments and our COPD page.
Related links
Sources and references
References checked July 26, 2026
- Alpha-1 antitrypsin deficiency (MedlinePlus Genetics (NIH))Research status: Established clinical knowledge
- American Thoracic Society / European Respiratory Society statements on lung disease (locate current AATD guidance) (American Thoracic Society)Research status: Established clinical knowledgeUse the current ATS/ERS AATD statements applicable to your practice.
- Alpha-1 Foundation clinical and patient education resources (Alpha-1 Foundation)Research status: Established clinical knowledge
Educational content only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.