TABLE 1

Indications for diagnostic testing for alpha-1 antitrypsin deficiency

Diagnostic testing for alpha-1 antitrypsin deficiency should be performed in the following settings:

  • Symptomatic adults with emphysema, chronic obstructive pulmonary disease, or asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilators. (Notably, in populations where the prevalence of alpha-1 antitrypsin deficiency is known to be much lower than the general North American and Northern European prevalence, a type B recommendation for diagnostic testing in this setting is offered, ie, genetic testing should be discussed and could reasonably be accepted or declined.)

  • Individuals with unexplained liver disease, including neonates, children, and adults, particularly the elderly.a

  • Asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors (eg, cigarette smoking, occupational exposure)

  • Adults with necrotizing panniculitis

  • ↵a Unexplained liver disease refers to demonstrated liver disease that is not deemed due to another identifiable cause, eg, viral hepatitis, hemochromatosis, Wilson disease.

  • Adapted from American Thoracic Society, European Respiratory Society. American Thoracic Society/ European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168:818–900.