Alpha-1 antitrypsin deficiency: whom to test, whom to treat?

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD) is the major identified genetic risk factor for chronic obstructive pulmonary disease (COPD). The biochemical events leading to lung destruction in AATD are well understood, and most of our understanding of the pathogenesis of COPD in general has been acquired through the study of AATD. There is a growing appreciation that early diagnosis of AATD can affect the course of...

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