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01-09-2018 | Review Article

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Authors: Sandra Sirrs, Fady Hannah-Shmouni, Stephen Nantel, James Neuberger, Eric M. Yoshida

Published in: Journal of Inherited Metabolic Disease | Issue 5/2018

Abstract

Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children. Despite similar disease specific indications, the actual spectrum of diseases for which transplantation is used differs between these age groups and this is partly related to the natural history of disease. There are diseases (such as urea cycle defects and X-linked adrenoleukodystrophy) for which transplantation is recommended for selected symptomatic patients as a treatment strategy in both adults and children. In those diseases, the frequency with which transplantation is used in adults is lower than in children and this may be related in part to a reduced awareness of transplantation as a treatment strategy amongst adult clinicians as well as limited donor availability and allocation policies which may disadvantage adult patients with IMDs. Risks of transplantation and disease-specific prognostic factors influencing outcomes also differ with age. We review the use of transplantation as a disease modifying strategy in adults focusing on how this differs from use in children to highlight areas for future research.

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Title: Transplantation as disease modifying therapy in adults with inherited metabolic disorders
Authors: Sandra Sirrs
Fady Hannah-Shmouni
Stephen Nantel
James Neuberger
Eric M. Yoshida
Publication date: 01-09-2018
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 5/2018
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-018-0141-z

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