pulmonary disorders
Alpha 1 Antitrypsin Deficiency
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. Diagnosis is confirmed by identifying serum alpha-1 antitrypsin levels<80 mg/dL (<15 micromol/L) if measured by the radial immunodiffusion method or levels<50 mg/dL (<9 micromol/L) if measured by nephelometry. 