Prevalence and clinical characteristics of alpha-1 antitrypsin deficiency in liver explants in a Mexican cohort |
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| Authors: | Alejandro Campos-Murguía Pedro Valdéz-Hernández Jacqueline Cordova-Gallardo Jazmín Arteaga-Vázquez Alan G. Contreras Mario Vilatobá Rodrigo Cruz-Martínez Braulio Martínez-Benítez Armando Gamboa-Domínguez Braulio A. Marfil-Garza Nayelli C. Flores-García Ernesto Márquez-Guillén Ignacio García-Juárez |
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| Affiliation: | 1. Department of Gastroenterology and Hepatology, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Av. Vasco de Quiroga 15, colonia Belisario Domínguez Sección XVI, Tlalpan, 14080 Mexico City, Mexico;2. Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Mexico City, Mexico;3. Department of Tranplant, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Mexico City, Mexico;4. Department of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Mexico City, Mexico;5. Alberta Diabetes Institute, Alberta, Canada;1. Institut des Maladies de l’Appareil Digestif, IMAD, University Hospital of Nantes, Nantes, France;2. Radiology Department, University Hospital of Nantes, Nantes, France;1. Department of Medicine, Marienhausklinik St. Josef Kohlhof, Klinikweg 1-5, 66539 Neunkirchen, Germany;2. Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany;1. Department of Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, South Korea;2. College of Pharmacy, Pusan National University, Busan, South Korea;3. Department of Statistics, College of Natural Science, Pusan National University, Busan, South Korea;1. Department of Medicine, Marienhausklinik St. Josef Kohlhof, Neunkirchen, Germany;2. Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany;3. Insitute of Pathology Saarbrücken-Rastpfuhl, Saarbrücken, Germany |
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| Abstract: | IntroductionAlpha-1 antitrypsin deficiency (AATD) is a risk factor for liver disease. PASD-positive inclusions have been found unexpectedly in approximately 10% of liver explants in patients with no previous diagnosis of AATD, particularly, in patients with non-alcoholic steatohepatitis (NASH), supporting a synergistic mechanism of liver injury between AATD and environmental factors. We aimed to determine the clinical characteristics of mestizo patients in which AATD was diagnosed before or after liver transplantation.MethodsLiver explants of patients with cryptogenic, alcoholic, and NAFLD/NASH cirrhosis undergoing orthotopic liver transplantation (OLT) were included. Liver histopathology was assessed by two expert pathologists. Hematoxylin and eosin staining, PASD staining, and confirmatory AAT immunohistochemistry were performed. In explants with positive histopathology, genotyping for SERPINA1 was performed.ResultsA total of 180 liver transplants were performed during the study period. Of these, 44 patients with cryptogenic cirrhosis, NASH, and alcoholic cirrhosis were included. Of these patients, two liver explants (4.5%) had PASD-positive inclusions stain and confirmatory immunochemistry. During the period evaluated, another two patients with a diagnosis of AATD before the OLT were also included. The four patients had overweight or obesity, three had type 2 diabetes mellitus, and two developed liver steatosis after the OLT.ConclusionAATD was found to be an infrequent finding in patients with cryptogenic, NASH/NAFLD, and alcoholic cirrhosis in our population. However, it is important to consider this entity as it may represent an additional factor in the appearance and progression of liver fibrosis in patients with metabolic syndrome. |
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| Keywords: | Alpha-1 antitrypsin Liver transplant Mexico Mestizo Steatosis |
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