Which lab studies are indicated in the workup of alpha1-antitrypsin deficiency (AATD)?

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

Alpha1-antitrypsin deficiency (AATD) should be suspected in any person who presents with early onset emphysema or COPD, regardless of his or her of smoking history. [15] And, in those individuals with unexplained liver disease at any age, including obstructive jaundice of infancy. [3] Definitive diagnosis of AATD is most frequently accomplished with use of a combination of biochemical and/or genetic tests. [9] Therefore, AATD testing should be seen as a laboratory diagnosis and not as a clinical diagnosis, [16] and the healthcare provider should maintain a low level of suspicion as the diagnosis is often missed.


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