O defice de alfa-1 antitripsina e uma doenca hereditaria autossomica codominante. O fenotipo Pi ZZ esta associado com maior frequencia a doenca pulmonar, sendo responsavel pelo aparecimento precoce de enfisema, sobretudo nos fumadores. Os autores apresentam dois casos de diagnostico tardio e em que estiveram presentes outros factores que terao contribuido para o aparecimento de manifestacoes clinicas.

The alpha-1 antitrypsin deficiency is an hereditary autosomic codominant disease. The phenotype Pi ZZ is associated more frequently with pulmonary disease and is responsible for the presence of emphysema early in life, particularly in smokers. The author's present two cases which diagnosis were performed later in life and in which other factors could be also responsible for clinical manifestations.