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Multicenter Study
. 2025 Jul;62(2):193-203.
doi: 10.1111/apt.70183. Epub 2025 May 30.

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

Manon Evain  1 , Isaac Ruiz  2 , Teresa Antonini  3 , Guillaume Lassailly  4 , Alessandra Mazzola  5 , Pauline Houssel Debry  6 , Laure Elkrief  7 , Rodolphe Anty  8 , Mylène Sebagh  1 , Philippe Ichai  1 , Daniel Cherqui  1 , Didier Samuel  1 , Ilias Kounis  1 , Audrey Coilly  1 ; GREF 2 group
Affiliations
Multicenter Study

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

Manon Evain et al. Aliment Pharmacol Ther. 2025 Jul.

Erratum in

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 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.

Keywords: alpha‐1 antitrypsin; genetic; liver transplantation; survey.

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Conflict of interest statement

The authors declare no conflicts of interest.

References

    1. Fromme M., Schneider C. V., Trautwein C., Brunetti‐Pierri N., and Strnad P., “Alpha‐1 Antitrypsin Deficiency: A Re‐Surfacing Adult Liver Disorder,” Journal of Hepatology 76 (2022): 946–958. - PubMed
    1. Blanco I., Bueno P., Diego I., et al., “Alpha‐1 Antitrypsin pi*Z Gene Frequency and pi*ZZ Genotype Numbers Worldwide: An Update,” International Journal of Chronic Obstructive Pulmonary Disease 12 (2017): 561–569. - PMC - PubMed
    1. Fromme M., Schneider C. V., Pereira V., et al., “Hepatobiliary Phenotypes of Adults With Alpha‐1 Antitrypsin Deficiency,” Gut 71 (2022): 415–423. - PubMed
    1. Hamesch K., Mandorfer M., Pereira V. M., et al., “Liver Fibrosis and Metabolic Alterations in Adults With Alpha‐1‐Antitrypsin Deficiency Caused by the pi*ZZ Mutation,” Gastroenterology 157 (2019): 705–719. - PubMed
    1. Ruiz M., Lacaille F., Berthiller J., et al., “Liver Disease Related to alpha1‐Antitrypsin Deficiency in French Children: The DEFI‐ALPHA Cohort,” Liver International 39 (2019): 1136–1146. - PubMed

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