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Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case report
Author(s) -
Muller Kate R.,
Padbury Robert,
Jeffrey Gary P.,
Poplawski Nicola K.,
Thompson Philip,
Tonkin Anne,
Harley Hugh A. J.
Publication year - 2010
Publication title -
liver transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.814
H-Index - 150
eISSN - 1527-6473
pISSN - 1527-6465
DOI - 10.1002/lt.22019
Subject(s) - transthyretin , liver transplantation , medicine , polyneuropathy , amyloid polyneuropathy , mutation , amyloidosis , amyloid (mycology) , gastroenterology , transplantation , pathology , gene , age of onset , disease , genetics , biology
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. Liver Transpl , 2010. © 2010 AASLD.