Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant

We herein report a 44-year-old Japanese man with hereditary transthyretin amyloidosis (ATTRv amyloidosis) harboring the variant Leu58Arg (p.Leu78Arg) in TTR in whom we conducted an observational study with liver transplantation (LT) and transthyretin (TTR) stabilizers (tafamidis and diflunisal) for...

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Detalles Bibliográficos
Autores principales: Hikishima, Sadao, Sakai, Kenji, Akagi, Akio, Yamaguchi, Hiroki, Shibata, Shutaro, Hayashi, Koji, Nakano, Hiroto, Kanemoto, Mizuki, Usui, Yuta, Taniguchi, Yu, Komatsu, Junji, Nakamura-Shindo, Keiko, Nozaki, Ichiro, Hamaguchi, Tsuyoshi, Ono, Kenjiro, Iwasa, Kazuo, Yamada, Masahito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424092/
https://www.ncbi.nlm.nih.gov/pubmed/35283385
http://dx.doi.org/10.2169/internalmedicine.8945-21
Descripción
Sumario:We herein report a 44-year-old Japanese man with hereditary transthyretin amyloidosis (ATTRv amyloidosis) harboring the variant Leu58Arg (p.Leu78Arg) in TTR in whom we conducted an observational study with liver transplantation (LT) and transthyretin (TTR) stabilizers (tafamidis and diflunisal) for 9 years. This patient showed gradual deterioration of sensory, motor, and autonomic neuropathy symptoms after LT. Furthermore, cardiac amyloidosis gradually developed. Although the present case showed deterioration of the symptoms after disease-modifying treatments, LT might be suitable in patients with the same variant if they are young and in good condition due to a long survival after LT.

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