Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant.
ATTRv amyloidosis
Leu58Arg (p.Leu78Arg)
liver transplantation
neuropathy
stabilizer
transthyretin
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Aug 2022
01 Aug 2022
Historique:
pubmed:
15
3
2022
medline:
3
8
2022
entrez:
14
3
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35283385
doi: 10.2169/internalmedicine.8945-21
pmc: PMC9424092
doi:
Substances chimiques
Prealbumin
0
Types de publication
Case Reports
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
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