Underdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study.

ABSTRACT:

Background and aims

Alpha-1 antitrypsin deficiency (AATD) is a prevalent genetic disorder in Europe causing hepatic fibrosis and often remains undiagnosed, even in severe cases requiring liver transplantation (LT). This study aimed to determine the frequency of pre-LT diagnosis amongst LT candidates with AATD and to describe their clinical characteristics. A secondary goal was to assess awareness and practices concerning AATD amongst LT specialists in France.

Methods

This retrospective multicenter cohort study included LT candidates diagnosed with AATD based on PAS-positive staining of explanted livers (1995-2020) from nine centres in France and Canada. A 22-question survey was sent to LT specialists in France to assess AATD knowledge and practices.

Results

Amongst 58

SUBMITTER: Evain M 

PROVIDER: S-EPMC12203144 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature