Alpha-1 Antitrypsin Deficiency: Phenotypes and Quality of Life

Alpha-1 antitrypsin deficiency (AATD) is a recognized genetic cause of rapidly progressive loss of lung function conventionally assessed by the decline in FEV1. However, there is less information concerning other physiological measures and the impact on quality of life. Data derived predominantly from the UK national registry show that AATD presents with various physiological phenotypes with differing clinical impact and progression. In general, the decline in quality of life is surprisingly slow despite rapid loss of lung function, which may reflect the benefits of centralized services for patients with AATD. Use of the new GOLD classification identifies patient characteristics that relate to mortality and disparate symptomatology despite similar spirometric impairment.