Alpha 1 Antitrypsin Deficiency C0221757
A genetic disorder damaging the lungs and liver due to a missing protective protein. Treatment includes lung support, liver monitoring, and avoiding lung irritants.
Key facts at a glance
- ICD-10
- E88.01
- ICD-11
- 5A00.0
- Body system
- respiratory
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Dyspnea on exertion
(respiratory)Shortness of breath or cough
(respiratory)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic cough
(respiratory)Sputum production
(respiratory)Digital clubbing
(respiratory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Enzyme Replacement Therapy
Intravenous augmentation therapy with alpha-1 antitrypsin protein helps slow lung disease progression by restoring protective protease inhibition. Regular infusions provide ongoing support for lung tissue preservation.
Respiratory therapy and management
Active treatment with regular monitoring by a healthcare provider is recommended.
Pulmonary Rehabilitation
Supervised pulmonary rehabilitation programs combining exercise training, breathing techniques, and education improve lung function, reduce dyspnea, and enhance exercise tolerance in patients with emphysema.
Additional treatment options
Environmental and Tobacco Avoidance
Complete tobacco cessation and avoidance of environmental pollutants, dust, and occupational hazards is essential to preserve remaining lung function and prevent accelerated decline.
lifestyleAnti-inflammatory Nutrition
Anti-inflammatory dietary patterns rich in antioxidants support lung health and may help reduce exacerbation frequency. Emphasize fruits, vegetables, and omega-3 fatty acids while reducing processed food intake.
dietaryPulmonary Function Surveillance
Regular spirometry testing and imaging monitors disease progression, treatment response, and timing for additional interventions. Includes annual lung function assessment and exacerbation tracking.
monitoringMedication Comparisons
Compare medications used to treat Alpha 1 Antitrypsin Deficiency C0221757. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy