Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy

Intern Med. 2023 Aug 1;62(15):2261-2266. doi: 10.2169/internalmedicine.0798-22. Epub 2022 Dec 21.

Abstract

We herein report a 68-year-old Japanese man with sporadic variant transthyretin (ATTRv) amyloidosis harboring the novel variant A97D (p.A117D) in TTR. He had slow development of asymmetric neuropathy, unintentional weight loss, mild autonomic failure and mild cardiomyopathy. TTR amyloid deposition on the gastric duodenal mucosa was detected. In silico analyses predicted that TTR A97D (p.A117D) altered the structure and function of the TTR protein. ATTRv amyloidosis is often difficult to diagnose in non-endemic regions due to its diverse phenotypes, such as atypical peripheral nerve involvement and a rare family history.

Keywords: ATTR-FAP; ATTRv amyloidosis; asymmetric neuropathy; transthyretin (TTR).

Publication types

  • Case Reports

MeSH terms

  • Amyloid Neuropathies, Familial* / complications
  • Amyloid Neuropathies, Familial* / diagnosis
  • Amyloid Neuropathies, Familial* / genetics
  • Cardiomyopathies*
  • Humans
  • Male
  • Mutation
  • Prealbumin / genetics

Substances

  • Prealbumin

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related