ArticleAlimentary pharmacology & therapeutics2025
Underdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study.
Article in Alimentary pharmacology & therapeutics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Alpha-1 Antitrypsin Deficiency in Patients With Cirrhosis in a US National Cohort.Clinical and translational gastroenterology · 2026Article
- Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort.Journal of clinical and experimental hepatologyArticle
Corrections and comments
- Erratum issued
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsAlpha-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.
methodsThis 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.
resultsAmongst 58 patients diagnosed with AATD between 1996 and 2020, 40% were diagnosed pre-LT, 15% post-LT and 45% never confirmed. Less than 25% had non-specific pulmonary symptoms. The survey revealed poor awareness of AATD; 78% of specialists rated their knowledge as very low to moderate. Consistent pre-LT screening occurred in 59.3% of cases, and 52.5% recommended familial screening upon a confirmed diagnosis.
conclusionAATD remains underdiagnosed in pre-LT assessments and is poorly understood amongst practitioners in France. Improved screening can enhance patient management, especially with emerging potentially curative treatments.
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