Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
oleh: Stormy C. Keppel, MD, Thomas H. Brannagan, III, MD, Stephen Helmke, RDCS, MPH, Jeffeny De Los Santos, MD, Leidy J. Gonzalez, MD, Raisy Fayerman, MD, Sergio Teruya, MD, Mathew S. Maurer, MD
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-11-01 |
Deskripsi
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.)