Can identifying alpha-1 antitrypsin deficiency before liver transplantation extend survival?
Alpha-1 antitrypsin deficiency (AATD) can manifest (among other things) as liver cirrhosis. The study presented below examined the survival of patients diagnosed with AATD before and after liver transplantation.
Introduction
Alpha-1 antitrypsin deficiency (serine protease inhibitor) is a hereditary disorder. It predisposes individuals to various diseases, most commonly pulmonary emphysema, but also bronchiectasis, chronic hepatitis, liver cirrhosis, hepatocellular carcinoma, panniculitis, and c-ANCA-associated vasculitis. According to available data, AAT deficiency is underdiagnosed in patients with pulmonary involvement, but data on its prevalence in liver cirrhosis cases requiring liver transplantation are still lacking. The study presented below examined the proportion of patients who had newly diagnosed AATD based on histological examination of explanted livers during transplantation.
Study Methodology
The retrospective study included 1,473 patients over the age of 18 who underwent liver transplantation at the Cleveland Clinic in Ohio between 2004 and 2017. All explanted livers were histologically examined. In the case of PAS-positive diastase-resistant inclusions indicative of AATD, medical records were further analyzed for AATD genotype, alternative etiologies of liver cirrhosis, the presence of pulmonary emphysema, and post-transplant survival. Kaplan-Meier curves were used to estimate 10-year survival for patients diagnosed with AAT deficiency before and after liver transplantation.
Results
PAS-positive diastase-resistant inclusions were found in 117 (7.9%) out of 1,473 histological samples of explanted livers. AAT deficiency was diagnosed based on genetic testing before transplantation in 36 (30.8%) patients and after liver transplantation in 46 (39.3%). A total of 35 (29.9%) patients with positive histology were not subsequently genetically tested. Better 10-year survival outcomes were observed in the group of patients diagnosed with AATD before liver transplantation (p = 0.098).
Conclusion
The results of the study suggest that alpha-1 antitrypsin deficiency is underdiagnosed in patients with liver cirrhosis undergoing liver transplantation. However, diagnosing AATD before transplantation may prolong survival in these patients.
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Sources:
1. Shan R. S., Alsuleiman B., Bena J. et al. Alpha-1 antitrypsin deficiency is under-recognized in individuals with cirrhosis undergoing liver transplantation. Eur J Gastroenterol Hepatol 2020 Nov 30, doi: 10.1097/MEG.0000000000002005 [Epub ahead of print].
2. Chlumský J. Standard for Diagnosis and Treatment of Patients with COPD due to AATD. Alfa1, 2021. Available at: https://alfa1.cz/index.php/pro-zdravotniky/standard-pro-diagnostiku-a-lecbu-pacientu-s-chopn-na-podklade-aatd
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