Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation.

ABSTRACT: Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fat pad biopsy. (Level of Difficulty: Intermediate.).

SUBMITTER: Keppel SC 

PROVIDER: S-EPMC8299767 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature