Detection of alpha-1 antitrypsin deficiency: the past, present and future

Orphanet J Rare Dis. 2020 Apr 19;15(1):96. doi: 10.1186/s13023-020-01352-5.


Background: Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was held on June 23, 2019 in Orlando, Florida during which stakeholders from the research, pharmaceutical, and patient communities focused on the topic of alpha-1 antitrypsin deficiency detection.

Results: A variety of detection strategies have been explored in the past and new approaches are emerging as technology advances. Targeted detection includes patients with chronic obstructive pulmonary disease, unexplained chronic liver disease, and family members of affected individuals. Newborn screening, electronic medical record data mining, and direct-to-consumer testing remain options for future detection strategies.

Conclusion: These meeting proceedings can serve as a basis for innovative approaches to the detection of alpha-1 antitrypsin deficiency.

Keywords: Alpha-1 antitrypsin; COPD; Chronic liver disease; Detection; Direct-to-consumer testing; Electronic medical record; Newborn screening; Rare disease; alpha-1 antitrypsin deficiency.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Infant, Newborn
  • Pulmonary Disease, Chronic Obstructive* / diagnosis
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin Deficiency* / diagnosis
  • alpha 1-Antitrypsin Deficiency* / genetics


  • alpha 1-Antitrypsin