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

Intern Med. 2022 Aug 1;61(15):2347-2351. doi: 10.2169/internalmedicine.8945-21. Epub 2022 Mar 12.

Abstract

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.

Keywords: ATTRv amyloidosis; Leu58Arg (p.Leu78Arg); liver transplantation; neuropathy; stabilizer; transthyretin.

Publication types

  • Case Reports
  • Observational Study

MeSH terms

  • Adult
  • Amyloid Neuropathies, Familial* / complications
  • Amyloid Neuropathies, Familial* / genetics
  • Amyloid Neuropathies, Familial* / surgery
  • Humans
  • Liver Transplantation*
  • Male
  • Nervous System Diseases*
  • Prealbumin / genetics

Substances

  • Prealbumin