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Severe Alpha-1 antitrypsin deficiency (AATD), PiZZ, is a hereditary disorder associated with an increased risk of liver
disease due to intracellular accumulation of misfolded AAT in hepatocytes. While the risk of liver disease in PiZZ
individuals is well recognized, the risk of liver disease in moderate AATD (PiSZ) remains unclear.
The aim of this study is to assess the risk of liver disease and identify associated risk factors in PiSZ individuals compared
with PiZZ individuals and population-based controls (PiMM), using non-invasive measures of liver fibrosis.
Cases (AATD); Individuals with confirmed PiSZ and PiZZ pheno-/genotype are identified from the EARCO Registry.
Controls (PiMM); control individuals with normal AAT pheno-/genotype (PiMM) are identified from the populationbased
cohorts in Region Skåne, Sweden. Control participants have available data on non-invasive liver assessment. A total
of approximately 350 controls are available for analysis.
Previous studies evaluating liver disease in PiSZ individuals are limited. Moreover, it is unknown whether PiSZ carriers are more
susceptible to liver injury in the presence of additional risk factors such as alcohol consumption, obesity, and metabolic
dysfunction. There is a clear need for well-designed studies using non-invasive liver assessment tools to clarify risk of
liver disease and to identify modifiers of the disease in this population.