Discordant lung function in alpha-1-antitrypsin deficiency

Differing emphysema distribution in alpha-1-antitrypsin deficiency (A1AD) relates to specific lung function abnormalities. This thesis explores which factors need to be taken into account when defining A1AD phenotypes. Miller’s lung function prediction equations were the most appropriate for our A1AD population as judged from predicting their survival. A1AD phenotypes were defined by Kco and FEV\(_1\)/FVC using these equations. Those with normal lung function and those with isolated Kco abnormality had the least smoking history, least emphysema and best health status whereas those with both indices abnormal had the worst. Those with isolated FEV\(_1\) abnormality had faster Kco decline compared to the normal and the both abnormal groups (p=0.002 and p