This report describes family members with alpha-1 antitrypsin (AAT) deficiency arising from two rare alleles of - p.(Phe76del) and p.(Asp280Val) along with the more common deficiency allele, Pi*Z.
View Article and Find Full Text PDFBackground: Currently, there is conflicting information and guidance on the effective management of Alpha 1 Antitrypsin Deficiency (AATD). Establishing a consensus of assessment and disease management specific to AATD is important for achieving a standardized treatment pathway and for improving patient outcomes. Here, we aim to utilize the Delphi method to establish a European consensus for the assessment and management of patients with severe AATD.
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