Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant

Ross C. Puffer, Robert J. Spinner, Hongyan Bi, Rishi Sharma, Yucai Wang, Jason D. Theis, Ellen D. McPhail, John J. Poterucha, Zhiyv Niu, Christopher J. Klein

Research output: Contribution to journalReview article

Abstract

Familial transthyretin (TTR) amyloidosis (FTA) is a serious autosomal dominant neuropathy caused by TTR germline mutations that lead to death on average 10 years from symptom onset. The mutant tetramer protein is produced predominantly in the liver, and liver transplantation is commonly performed to reduce the production of the mutant protein.1 The otherwise well-working explanted TTR liver can be transplanted into recipients who require liver transplantation but are unable to receive a liver in a timely fashion, the so-called domino liver transplant (DLTX). Recently, oligonucleotide drugs that reduce circulating TTR have been approved by the Food and Drug Administration (FDA), and these drugs use either antisense (inotersen) or RNA interference (patisiran), whereas earlier tetramer-stabilizing drugs (tafamidis and diflunisal) were less efficacious.2 Herein, we describe a domino liver recipient who died of respiratory failure from transplanted p.Val71Ala amyloidosis.

Original languageEnglish (US)
Article numbere351
JournalNeurology: Genetics
Volume5
Issue number5
DOIs
StatePublished - 2019

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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