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Homozygosity for the Pi*Z genotype of the SERPINA1 gene, or Pi*ZZ, leads to severe alpha-1 antitrypsin (AAT) deficiency, which can cause lung emphysema and liver disease. Although Pi*ZZ prevalence is rare, Pi*MZ (heterozygosity) is more common. Pi*MZ does not lead to overt lung or liver disease but is considered a disease modifier. However, there are few data on liver-related clinical characteristics in Pi*MZ carriers.
In a cross-sectional analysis, researchers compared liver findings between 419 individuals with genetically diagnosed Pi*MZ without known liver disease, 309 individuals with Pi*ZZ genotype, and 284 Pi*Z noncarriers. Data collected included liver biopsy findings, liver stiffness measurements, and liver biochemistries.
Compared w…