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

作者：Manon Evain, Isaac Ruiz, Térésa Antonini, Guillaume Lassailly, Alessandra Mazzola, Pauline Houssel Debry, Laure Elkrief, Rodolphe Anty, Mylène Sebagh, Philippe Ichai, Daniel Cherqui, Didier Samuel, Ilias Kounis, Audrey Coilly, the GREF 2 group · 发表于：Alimentary Pharmacology & Therapeutics · 年份：2025 · DOI：10.1111/apt.70183 · 被引用次数：3 · 研究领域：Protease and Inhibitor Mechanisms、Liver Disease and Transplantation、Liver physiology and pathology

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 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. CONCLUSION: AATD 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.