Fast Five Quiz: Presentation and Diagnosis of Alpha-1 Antitrypsin Deficiency

Dora E. Izaguirre Anariba, MD


November 23, 2021

Phenotyping is required to confirm a diagnosis of AATD. Of note, alpha-1 antitrypsin replacement therapy should not be initiated without such testing.

More than 100 phenotypic variants of AATD have been identified; however, one phenotype, PiZZ, is responsible for most cases of AATD-associated emphysema and liver disease. Other phenotypes associated with emphysema and liver disease in patients with AATD include PiSZ and PiZ/Null. PiNull/Null is associated with AATD-associated emphysema but not liver disease.

Learn more about the diagnosis of AATD.

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