COPD in individuals with the PiMZ alpha-1 antitrypsin genotype

摘要

Since the discovery of severe alpha-1 antitrypsin deficiency as a genetic risk factor for emphysema; there has been ongoing debate over whether individuals with intermediate deficiency with one protease inhibitor Z allele (PiMZ; or MZ) are at some risk for emphysema. This is important; because MZ individuals comprise 2xe2x80x935% of the general population. In this review we summarise the evidence about the risks of the MZ population to develop emphysema or asthma. We discuss the different study designs that have tried to answer this question. The risk of emphysema is more pronounced in casexe2x80x93control than in population-based studies; perhaps due to inadequate power. Carefully designed family studies show an increased risk of emphysema in MZ smokers. This is supported by the rapid decline in lung function of MZ individuals when compared to the general population after massive environmental exposures. The risk of asthma in MZ subjects is less studied; and more literature is needed before firm conclusions can be made. Augmentation therapy in MZ individuals is not supported by any objective studies. MZ smokers are at increased risk for emphysema that is more pronounced when other environmental challenges are present.