Emer Kelly, Catherine M. Greene, Tomas P. Carroll, Noel G. McElvaney, Shane J. O’Neill
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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.
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