Severe alpha1-antitrypsin deficiency: A cross sectional clinical study [Grave deficit di alfa1-antitripsina: Studio clinico trasversale]

The aim of this study was to investigate a group of severe alpha 1-antitrypsin deficient subjects. Of the 20 subjects detected, 7 were classified as Index Cases (discovered because they were symptomatic and had pulmonary emphysema or liver disease), while 13 were classified as Non-Index Cases (asymptomatic and discovered because they were relatives of Index Cases or because of the absence of alpha 1 band in serum electrophoresis). They underwent pulmonary function tests, determination of arterial blood gases, lung high resolution computed tomography and lung perfusion scan. All Index Cases were with the ZZ phenotype, indicating a major risk of developing related pulmonary emphysema or liver disease; most Index Cases (71%) were ex-smokers, while among the Non-Index Cases, 46% were smokers or ex-smokers, suggesting that smoking might be the main cofactor in the development of emphysema. Index Cases were older (statistical significance) and mostly male as compared with Non-Index Cases. A statistical significance was observed between the two groups for several lung function parameters (forced expiratory volume in one second, Tiffenau index, residual volume, diffusing capacity of the lung for carbon monoxide, arterial oxygen tension) as a result of a pathological impairment in Index Cases. This underdiagnosed condition merits more attention in order to prevent its complications and to get a better understanding about its diagnosis and management.