Alimentary pharmacology & therapeutics · 2025
Underdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Evain Manon, Ruiz Isaac, Antonini Teresa, Lassailly Guillaume, Mazzola Alessandra, Debry Pauline Houssel, Elkrief Laure, Anty Rodolphe, Sebagh Mylène, Ichai Philippe, Cherqui Daniel, Samuel Didier, Kounis Ilias, Coilly Audrey, GREF 2 group
Аннотация
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.
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.