Alpha-1 antitrypsin deficiency

SummaryObjectiveTo review the topic of alpha-1 antitrypsin (AAT) deficiency.MethodNarrative literature review.ResultsMuch work has been carried out on this condition with many questions being answered but still further questions remain.Discussion and conclusionsAAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, genetics, molecular pathophysiology, screening and treatment recommendations are summarised in this review.