Overview
Definition
Genetic disorder leading to panacinar emphysema and liver disease.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- AAT gene mutation (PiZZ phenotype).
Clinical Symptoms
- Early-onset COPD (lower lobes)
- jaundice/cirrhosis in childhood.
Clinical Approach
Diagnosis
- Serum AAT levels
- genetic testing.
Management
- IV AAT augmentation therapy
- avoid smoking.
Complications
- Emphysema
- Liver cirrhosis.