Who should be tested for alpha-1?

The American Thoracic Society (ATS) and European Respiratory Society (ERS) recommend targeted genetic testing to rule out alpha-1-antitrypsin (A1AT) deficiency (also known as alpha-1) in all forms of COPD.1

  • Test all adults with symptomatic COPD, regardless of smoking history
  • Test all adults with symptomatic emphysema, regardless of smoking history
  • Test all adults with symptomatic asthma whose airflow obstruction is incompletely reversible after bronchodilator therapy
  • Test asymptomatic patients with persistent obstruction on pulmonary function tests with identifiable risk factors (eg, smoking, occupational exposure)
  • Test siblings of individuals with alpha-1

Be alert to these indicators when evaluating a patient with COPD

  • Family history of any of the following: emphysema, bronchiectasis, liver disease (eg, cirrhosis), necrotizing panniculitis
  • Early-onset emphysema
  • Emphysema in the absence of a known risk factor (eg, smoking)
  • Rapid decline in lung function
 

Learn more about the ATS/ERS recommendations for targeted genetic testing

Learn more

Because alpha-1 is a genetic condition, all COPD patients should be tested regardless of smoking history1,2

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References

  1. 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(7):818-900.
  2. World Health Organization. alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.

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