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Symptomatic Val122del mutated hereditary transthyretin amyloidosis: Need for early diagnosis and prioritization for heart and liver transplantation

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Hepatobiliary & Pancreatic Diseases International 2021年第4期20卷 323-329页

作者： Adriano-Valerio Schettini Laura Llado juliek.heimbach JoseGonzalez Costello Marie Tranäng Olivier Van Caenegem Richard C Daly Peter Van den Bergh Carlos Casasnovas Joan Fabregat John J Poterucha Maxime Foguenne Bo Göran Ericzon Jan Lerut Institute for Experimental and Clinical Research(IREC) Catholic University of Louvain(UCL)Avenue Hippocrate 55Brussels 1200Belgium Liver Transplant Unit Department of SurgeryHospital Universitari de BellvitgeCalle de la Feixa LlargaBarcelona 08907Spain Division of Transplantation Surgery William J.von Liebig Transplant CenterMayo Clinic2001st St SWRochesterMN 55905USA Advanced Heart Failure and Transplant Unit Cardiology DepartmentHospital Universitari de BellvitgeCalle de la Feixa LlargaBarcelona 08907Spain Familial Amyloidotic Polyneuropathy World Transplant Registry(FAPWTR) Division of Transplantation SurgeryKarolinska Universitetssjukhuset HuddingeF82Karolinska InstitutetStockholm 14186Sweden Cardiothoracic Intensive Care Unit Department of Cardiovascular DiseasesUniversity Hospitals Saint-Luc-UCLAvenue Hippocrate 10Brussels 1200Belgium Cardiovascular Surgery Department Mayo Clinic2001st St SWRochesterMN 55905USA Neuromuscular Reference Centre University Hospital Saint-Luc-UCLAvenue Hippocrate 10Brussels 1200Belgium Neuromuscular Unit Neurology DepartmentHospital Universitari de BellvitgeCalle de la Feixa LlargaBarcelona 08907Spain Division of Gastroenterology and Hepatology Mayo Clinic2001st St SWRochester MN 08907USA Division of Transplantation Surgery CLINTECKarolinska Universitetssjukhuset HuddingeF82Karolinska InstitutetStockholm 14186Sweden

Background: Hereditary transthyretin(ATTRv) amyloidosis is an autosomal dominant disease linked to transthyretin gene mutations which cause instability of the transthyretin tetramer. After dissociation and misfolding they reassemble as insoluble fibrils(i.e. amyloid). Apart from the common Val30 Met mutation there is a very heterogeneous group of non-Val30 Met mutations. In some cases, the clinical picture is dominated by a rapidly evolving restrictive and hypertrophic cardiomyopathy. Methods: A case series of four liver recipients with the highly clinically relevant, rare and particularly aggressive Val122 del mutation is presented. Medical and surgical therapeutic options, waiting list policy for ATTRv-amyloidosis, including the need for heart transplantation, and status of heart-liver transplantation are discussed. Results: Three patients needed a staged(1 patient) or simultaneous(2 patients) heart-liver transplant due to rapidly progressing cardiac failure and/or neurologic disability. Domino liver transplantation was impossible in two due to fibrotic hepatic transformation caused by cardiomyopathy. After a follow-up ranging from 3.5 to 9.5 years, cardiac(allograft) function was maintained in all patients, but neuropathy progressed in three patients, one of whom died after 80 months. Conclusions: This is the first report in(liver) transplant literature about the rare Val122 del ATTRv mutation. Due to its aggressiveness, symptomatic patients should be prioritized on the liver and, in cases with cardiomyopathy, heart waiting lists in order to avoid the irreversible neurological and cardiac damage that leads to a rapid lethal outcome.

关键词： Hereditary transthyretin amyloidosis Heart transplantation Liver transplantation Non-Val30Met mutation Val122del mutation Domino liver transplantation

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