Alpha1-Antitrypsin Deficiency Guidelines

Updated: Feb 10, 2017
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Guidelines

Guidelines Summary

Indications for diagnostic testing for alpha1-antitrypsin 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 identifiable risks factors (eg, smoking, occupational exposure)
  • Adults with necrotizing panniculitis

Management recommendations are as follows:

  • The use of intravenous augmentation therapy for individuals with established airflow obstruction from AATD

General management of obstructive lung disease are as follows:

  • AAT repletion
  • Inhaled bronchodilators
  • Vaccinations against influenza and Pneumococcus to prevent infections
  • Supplemental oxygen when indicated by conventional criteria
  • Pulmonary rehabilitation for individuals with functional impairment
  • Consideration of lung transplantation for selected individuals with severe functional impairment and airflow obstruction
  • During acute exacerbations of COPD, AAT repletion should be included

The Spanish Society of Pneumology and Thoracic Surgery (SEPAR) recommends the following [13] :

  • All COPD patients should be screened for AATD at least once in their lifetime