Survival After Transplantation in Patients With Mutations Other Than Val30Met
| Autor: | Bo-Göran Ericzon, Henryk Wilczek, Marie Larsson, Ole B. Suhr |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male medicine.medical_specialty Time Factors medicine.medical_treatment DNA Mutational Analysis Treatment outcome Kaplan-Meier Estimate 030204 cardiovascular system & hematology Liver transplantation Gastroenterology Young Adult 03 medical and health sciences 0302 clinical medicine Risk Factors Internal medicine medicine Humans Prealbumin Genetic Predisposition to Disease In patient Registries Young adult Aged Amyloid Neuropathies Familial Transplantation biology business.industry Amyloidosis Large series Original Clinical Science—Liver Middle Aged medicine.disease Liver Transplantation Surgery Transthyretin Phenotype Treatment Outcome Mutation biology.protein Female business 030217 neurology & neurosurgery |
| Zdroj: | Transplantation |
| ISSN: | 0041-1337 |
| DOI: | 10.1097/tp.0000000000001021 |
| Popis: | Background Liver transplantation (LTx) has been performed for hereditary transthyretin amyloidosis (ATTR) since 1990. Outcomes for a relatively large series of LTx ATTR patients with the Val30Met (mutation are available, but for non-Val30Met patients, only a few reports with a small number of patients exist. Here, we present outcomes for non-Val30Met ATTR patients after LTx, as reported to the Familial Amyloid Polyneuropathy World Transplant Registry (FAPWTR). Methods Data regarding outcome were extracted for all non-Val30Met patients reported to the registry. Survival rates were analyzed by the Kaplan-Meier method and log-rank test. Results The total number of patients with a non-Val30Met mutation in the registry was 264 (174 men and 90 women), representing 57 mutations. The 10-year survival varied markedly for the 9 most common mutations, ranging from 21% for Ser50Arg to 85% for Val71Ala. Poor survival was noted for all mutations with leptomeningeal complications except for those with the Tyr114Cys mutation. Conclusions Large differences in survival were observed relative to different mutations and between mutations with similar phenotypes. Excellent survival was noted for mutations, such as Leu111Met, Val71Ala, and Leu58His. Patients with mutations other than Val30Met are not a homogeneous group, and the term non-Val30Met should be used with caution or avoided. Moreover, for several mutations, data are too limited to allow evaluation of the efficacy of LTx, and continuous international collaboration is important for obtaining treatment guidance. |
| Databáze: | OpenAIRE |
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