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

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.