Alpha-1-antitrypsin deficiency


What are the first steps after an initial diagnosis of alpha-1 antitrypsin deficiency?

After a diagnosis of alpha-1 antitrypsin deficiency (AATD) is made, the following are recommended:

  • Pulmonary function tests to check for signs of lung disease
  • Chest CT to check for signs of lung disease, like emphysema
  • Liver biopsy to look for signs of liver disease, when it is suspected
  • Careful examination of the skin

Guidelines written for healthcare providers about diagnosis and management of alpha-1 antitrypsin deficiency can be found at:

A list of AATD specialists can be found at

Alpha-1 Antitrypsin Deficiency. GeneReviews. Retrieved August 28, 2017 from

Alpha-1 Foundation. Retrieved from

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