Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation

A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously sus...

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Autores principales: Matsushima, Masaaki, Yabe, Ichiro, Tsuda, Masaya, Sakakibara, Mamoru, Shimamura, Tsuyoshi, Sasaki, Hidenao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742399/
https://www.ncbi.nlm.nih.gov/pubmed/28943540
http://dx.doi.org/10.2169/internalmedicine.8434-16
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author Matsushima, Masaaki
Yabe, Ichiro
Tsuda, Masaya
Sakakibara, Mamoru
Shimamura, Tsuyoshi
Sasaki, Hidenao
author_facet Matsushima, Masaaki
Yabe, Ichiro
Tsuda, Masaya
Sakakibara, Mamoru
Shimamura, Tsuyoshi
Sasaki, Hidenao
author_sort Matsushima, Masaaki
collection PubMed
description A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation. Oral tafamidis therapy has inhibited the progression of neurological and cardiovascular symptoms this far. We herein report this first case of amyloid polyneuropathy and myocardial amyloidosis after DLT from hereditary ATTR amyloidosis with a transthyretin Ser50Arg mutation and discuss similar cases of other mutations.
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spelling pubmed-57423992017-12-27 Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation Matsushima, Masaaki Yabe, Ichiro Tsuda, Masaya Sakakibara, Mamoru Shimamura, Tsuyoshi Sasaki, Hidenao Intern Med Case Report A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation. Oral tafamidis therapy has inhibited the progression of neurological and cardiovascular symptoms this far. We herein report this first case of amyloid polyneuropathy and myocardial amyloidosis after DLT from hereditary ATTR amyloidosis with a transthyretin Ser50Arg mutation and discuss similar cases of other mutations. The Japanese Society of Internal Medicine 2017-09-25 2017-12-01 /pmc/articles/PMC5742399/ /pubmed/28943540 http://dx.doi.org/10.2169/internalmedicine.8434-16 Text en Copyright © 2017 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Matsushima, Masaaki
Yabe, Ichiro
Tsuda, Masaya
Sakakibara, Mamoru
Shimamura, Tsuyoshi
Sasaki, Hidenao
Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
title Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
title_full Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
title_fullStr Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
title_full_unstemmed Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
title_short Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
title_sort amyloid polyneuropathy and myocardial amyloidosis 10 years after domino liver transplantation from a patient with a transthyretin ser50arg mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742399/
https://www.ncbi.nlm.nih.gov/pubmed/28943540
http://dx.doi.org/10.2169/internalmedicine.8434-16
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