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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Cite this: Dora E. Izaguirre Anariba. Fast Five Quiz: Presentation and Diagnosis of Alpha-1 Antitrypsin Deficiency - Medscape - Nov 23, 2021.