Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

[...]chronic liver disease may be asymptomatic for years and, therefore, the condition might be underestimated at the time of patient assessment by the physicians participating in the screening programme (who are mostly pulmonologists). Interestingly, however, the rare AATD variants displayed a different geographic distribution, peaking in regions, such as Sardinia, with lower PI*ZZ prevalence. Since the nomenclature of many rare AATD variants reflects their probable southern Italian origin (Mprocida, Mpalermo, Q0isola di procida, Q0trastevere), this raises the intriguing question of whether rare AATD variants are more prevalent in areas with a lower PI*Z gene frequency.