Diagnosis of Alpha-1 Antitrypsin Deficiency Serum alpha-1 antitrypsin level Genotyping Alpha-1 antitrypsin deficiency is suspected in the following: Smokers who develop emphysema before age 45 Nonsmokers without occupational exposures who develop emphysema at any age Patients whose chest x-ray shows predominately lower lung emphysema Patients with a family history of emphysema or unexplained cirrhosis People with a family history of alpha-1-antitrypsin deficiency Patients with panniculitis Neonates with jaundice or liver enzyme elevations Patients with unexplained bronchiectasis or liver disease Screening is usually done with genotyping.