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The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency

Lookup NU author(s): Professor Andrew GenneryORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2022, The Author(s).Objectives: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome. Several reports have described allogeneic hematopoietic stem cell transplantation in severely affected patients, sometimes with promising results. In view of the scarcity of data, this study aims to analyse the efficacy and safety of allogeneic hematopoietic stem cell transplantation (HSCT) to give a more complete overview of this treatment. Methods: This multicentre retrospective study on behalf of the European Society for Blood and Marrow Transplantation aimed to include all MKD patients who had undergone allogeneic HSCT. All centres related to EMBT and centres that have reported cases of allogeneic HSCT in the literature were contacted via the EBMT data office. Results: We analyzed 9 patients (5 male). Treosulfan based conditioning was the most frequently used conditioning regimen. Engraftment occurred in all but one patient. Source of stem cells was cord blood (n = 2), peripheral blood stem cells (n = 4) and bone marrow (n = 5). Two patients needed a second transplantation due to an incomplete response or primary graft failure. Seven patients went into complete remission after stem cell transplantation. At final follow-up these patients reported no symptoms of MKD. Four patients suffered from grade II-IV acute graft-versus-host disease (GvHD). During follow-up two patients died due to transplantation related complications. Conclusion: In conclusion, allogeneic stem cell transplantation represents an effective treatment for the most severely affected MKD patients. However, treatment-related morbidity and mortality are significant. Transplantation may be justified in patients with a severe disease course on conservative therapy.

Publication metadata

Author(s): Jeyaratnam J, Faraci M, Gennery AR, Drabko K, Algeri M, Morimoto A, Sirait T, Lankester AC, Albert M, Neven B, Frenkel J

Publication type: Article

Publication status: Published

Journal: Pediatric Rheumatology

Year: 2022

Volume: 20

Issue: 1

Online publication date: 29/07/2022

Acceptance date: 16/07/2022

Date deposited: 12/08/2022

ISSN (electronic): 1546-0096

Publisher: BioMed Central Ltd

URL: https://doi.org/10.1186/s12969-022-00716-4

DOI: 10.1186/s12969-022-00716-4

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