Olivier Guillaud1, Emmanuel Jacquemin2, Eduardo Couchonnal3, Claire Vanlemmens4, Claire Francoz5, Yasmina Chouik6, Filomena Conti7, Christophe Duvoux8, Marie-Noëlle Hilleret9, Nassim Kamar10, Pauline Houssel-Debry11, Martine Neau-Cransac12, Georges-Philippe Pageaux13, Emmanuel Gonzales2, Oanez Ackermann2, Jean Gugenheim14, Alain Lachaux15, Mathias Ruiz3, Sylvie Radenne16, Dominique Debray17, Florence Lacaille17, Valérie McLin18, Jean-Charles Duclos-Vallée19, Didier Samuel19, Audrey Coilly19, Jérôme Dumortier20. 1. Hospices Civils de Lyon, Hôpital Edouard Herriot, Fédération des spécialités digestives, Lyon, France; Ramsay Générale de Santé, Clinique de la Sauvegarde, Lyon, France. 2. Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Hépatologie et Transplantation Hépatique Pédiatriques, Centre National de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, Université Paris Saclay, Le Kremlin-Bicêtre, France; Inserm U1193, Hepatinov, Université Paris Saclay, Orsay, France. 3. Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d'Hépato-gastroentérologie et Nutrition Pédiatrique, Bron, France. 4. CHU de Besançon, Hôpital Jean Minjoz, Service d'Hépatologie, France. 5. Assistance Publique-Hôpitaux de Paris, Hôpital Beaujon, Service d'Hépatologie, Clichy, France. 6. Hospices Civils de Lyon, Hôpital Edouard Herriot, Fédération des spécialités digestives, Lyon, France. 7. Assistance Publique-Hôpitaux de Paris, Hôpital La Pitié-Salpétrière, Service d'Hépato-gastroentérolgie, Paris, France. 8. Assistance Publique-Hôpitaux de Paris, Hôpital Henri Mondor, Service d'Hépatologie, Créteil, France. 9. CHU de Grenoble, Hôpital Michalon, Service d'Hépato-Gastroentérologie, La Tronche, France. 10. CHU de Toulouse, Hôpital Rangueil, Service de Néphrologie-Hypertension artérielle-Dialyse-Transplantation, Toulouse, France. 11. CHU de Rennes, Hôpital de Pontchaillou, Service d'Hépatologie, Rennes, France. 12. CHU de Bordeaux, Hôpital Haut Lévêque, Service de Chirurgie Hépatobiliaire et de Transplantation Hépatique, Bordeaux, France. 13. CHU de Montpellier, Hôpital Saint-Eloi, Fédération Médico-Chirurgicale des Maladies de l'Appareil Digestif, Montpellier, France. 14. CHU de Nice, Hôpital L'Archet 2, Service de Chirurgie Digestive, Nice, France. 15. Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d'Hépato-gastroentérologie et Nutrition Pédiatrique, Bron, France; Université de Lyon, Lyon, France. 16. Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Service d'Hépatologie, Lyon, France. 17. Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants malades, Unité d'Hépatologie pédiatrique, Centre de référence de l'Atrèsie des voies biliaires et cholestases génétiques, filière de santé Filfoie, Paris, France. 18. Centre Suisse du Foie de l'Enfant, Hôpitaux Universitaires de Genève, Département de Pédiatrie, Gynécologie et Obstétrique, Genève, Suisse. 19. Inserm U1193, Hepatinov, Université Paris Saclay, Orsay, France; Assistance Publique-Hôpitaux de Paris, Hôpital Paul Brousse, Centre Hépato-Biliaire, Villejuif, France. 20. Hospices Civils de Lyon, Hôpital Edouard Herriot, Fédération des spécialités digestives, Lyon, France; Université de Lyon, Lyon, France. Electronic address: jerome.dumortier@chu-lyon.fr.
Abstract
INTRODUCTION: Liver transplantation (LT) is the therapeutic option for end-stage liver disease associated with alpha1 antitrypsin (A1AT) deficiency. The aim of the present retrospective study was to report on long-term outcomes following LT for A1AT deficiency. METHODS: The medical records of 90 pediatric and adult patients transplanted between 1982 and 2017 in France and Geneva (Switzerland) were reviewed. RESULTS: The study population consisted of 32 adults and 58 children; median age at transplant was 13.0 years (range: 0.2-65.1), and 65 were male (72.2%). Eighty-two patients (94.8% of children and 84.4% of adults) had the PI*ZZ genotype/phenotype and eight patients (8.9%) had the Pi*SZ genotype/phenotype. Eighty-four patients (93.3%) were transplanted for end-stage liver disease and six (all Pi*ZZ adults) for HCC. Median follow-up after LT was 13.6 years (0.1-31.7). The overall cumulative patient survival rates post-transplant were 97.8% at 1 year, and 95.5%, 95.5%, 92.0%, 89.1% at 5, 10, 15, 20 years respectively. The overall cumulative graft survival rates were 92.2% at 1 year, and 89.9%, 89.9%, 84.4%, 81.5% at 5, 10, 15 and 20 years, respectively. CONCLUSIONS: In a representative cohort of patients having presented with end-stage-liver disease or HCC secondary to A1AT, liver transplantation offered very good patient and graft survival rates.
INTRODUCTION: Liver transplantation (LT) is the therapeutic option for end-stage liver disease associated with alpha1 antitrypsin (A1AT) deficiency. The aim of the present retrospective study was to report on long-term outcomes following LT for A1AT deficiency. METHODS: The medical records of 90 pediatric and adult patients transplanted between 1982 and 2017 in France and Geneva (Switzerland) were reviewed. RESULTS: The study population consisted of 32 adults and 58 children; median age at transplant was 13.0 years (range: 0.2-65.1), and 65 were male (72.2%). Eighty-two patients (94.8% of children and 84.4% of adults) had the PI*ZZ genotype/phenotype and eight patients (8.9%) had the Pi*SZ genotype/phenotype. Eighty-four patients (93.3%) were transplanted for end-stage liver disease and six (all Pi*ZZ adults) for HCC. Median follow-up after LT was 13.6 years (0.1-31.7). The overall cumulative patient survival rates post-transplant were 97.8% at 1 year, and 95.5%, 95.5%, 92.0%, 89.1% at 5, 10, 15, 20 years respectively. The overall cumulative graft survival rates were 92.2% at 1 year, and 89.9%, 89.9%, 84.4%, 81.5% at 5, 10, 15 and 20 years, respectively. CONCLUSIONS: In a representative cohort of patients having presented with end-stage-liver disease or HCC secondary to A1AT, liver transplantation offered very good patient and graft survival rates.