When is diagnostic testing for alpha1-antitrypsin deficiency (AATD) indicated?

Updated: Sep 11, 2020
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Answer

Indications for diagnostic testing for AAT deficiency (AATD) as per the American Thoracic Society and the European Respiratory Society are as follows [5, 17] :

  • Symptomatic adults with emphysema, chronic obstructive pulmonary disease (COPD), or asthma with airflow obstruction that is incompletely controlled after aggressive treatment with bronchodilators
  • Individuals with unexplained liver disease, including neonates, children, adults, and older adults
  • Asymptomatic individuals with persistent obstruction on pulmonary function tests (PFTs) with or without identifiable risks factors (eg, smoking, occupational exposure)
  • Adults with necrotizing panniculitis

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