DISEASE SCANNER
Global Incurable Diseases Tracker
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Pulmonary Disease
Alpha-1 Antitrypsin Deficiency (Pulmonary)
HIGH SEVERITY
A genetic disorder causing low levels of alpha-1 antitrypsin, leading to panacinar emphysema, particularly in the lower lobes. Patients develop early-onset COPD, often before age 45. Can also cause liver disease.
Global Affected
1.0M
Countries
17
Symptoms
Dyspnea
Wheezing
Chronic cough
Sputum production
Early-onset emphysema
Recurrent respiratory infections
Fatigue
Barrel chest
Treatment Options
Alpha-1 antitrypsin augmentation therapy
Bronchodilators
Inhaled corticosteroids
Pulmonary rehabilitation
Oxygen therapy
Vaccinations
Lung volume reduction surgery
Lung transplantation
Risk Factors
1SERPINA1 gene mutations (Z and S alleles)
2Smoking (accelerates disease)
3Family history
4Northern European ancestry
Diagnostic Methods
- 1Serum alpha-1 antitrypsin level
- 2Phenotyping/genotyping
- 3Pulmonary function tests
- 4Chest CT
- 5Chest X-ray
- 6Liver function tests
Prognosis
Variable; nonsmokers may have near-normal lifespan. Smokers develop severe COPD early. Augmentation therapy slows progression in FEV1 35-60%.
Prevention
- Smoking cessation (critical)
- Avoid secondhand smoke
- Avoid occupational dusts/fumes
- Vaccinations
- Genetic counseling
Research Status
Alpha-1 antitrypsin augmentation therapy and Bronchodilators are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency
- https://www.ncbi.nlm.nih.gov/books/NBK1519
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.