Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report

Kate Muller, Robert Padbury, Gary Jeffrey, Nicola Poplawski, Philip Thompson, Anne Tonkin, Hugh Harley

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

Transthyretin amyloid polyneuropathy, caused by mutations in the transthyretin gene, is a progressive condition for which liver transplantation is an established treatment. Favorable outcomes have been described in patients with the most common transthyretin mutation, Val30Met, but outcomes have been variable in patients with other mutations. We describe the cases of 2 siblings with transthyretin amyloid polyneuropathy secondary to an infrequently reported transthyretin mutation (Ala36Pro) who underwent liver transplantation with poor outcomes.

Original languageEnglish
Pages (from-to)470-473
Number of pages4
JournalLiver Transplantation
Volume16
Issue number4
DOIs
Publication statusPublished - Apr 2010
Externally publishedYes

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