Alpha-1 antitrypsin deficiency.
OBJECTIVE: To review the topic of alpha-1 antitrypsin (AAT) deficiency.
METHOD: Narrative literature review.
RESULTS: Much work has been carried out on this condition with many questions being answered but still further questions remain.
DISCUSSION AND CONCLUSIONS: AAT 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.