Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment

Gaucher disease (GD) is one of the most prevalent lysosomal disorders, with an estimated incidence of 1 in 40,000 live births worldwide. Skeletal involvement is one of the main features of GD, causing morbidity and impacting long-term quality of life in patients with type 1 GD. To characterize bone...

Full description

Saved in:
Bibliographic Details
Published inBlood cells, molecules, & diseases Vol. 90; p. 102591
Main Authors Paskulin, Livia d'Ávila, Starosta, Rodrigo Tzovenos, Bertholdo, Débora, Vairo, Filippo Pinto, Vedolin, Leonardo, Schwartz, Ida Vanessa Doederlein
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.09.2021
Subjects
Online AccessGet full text

Cover

Loading…
More Information
Summary:Gaucher disease (GD) is one of the most prevalent lysosomal disorders, with an estimated incidence of 1 in 40,000 live births worldwide. Skeletal involvement is one of the main features of GD, causing morbidity and impacting long-term quality of life in patients with type 1 GD. To characterize bone marrow infiltration in patients with type 1 GD followed at the Gaucher Disease Referral Center of Porto Alegre, Brazil, and to assess whether the Bone Marrow Burden score (BMB) correlates with clinical or laboratory parameters. We also evaluated whether the BMB score is a suitable parameter for long-term follow-up of patients with type 1 GD. All included patients underwent magnetic resonance imaging for BMB score calculation at baseline, 1 year, and every other year thereafter or as clinically indicated from 2012 to 2018. The BMB score tended to decrease during the first 5 years of treatment, at a rate of −1.08 points per year; after the 5-year mark, BMB tended to remain stable. The BMB score is useful for response monitoring in the first five years of treatment. We recommend that, after 5 years of treatment, MRI for BMB evaluation should only be performed in non-adherent patients or in those who develop symptoms of acute skeletal disease. •The BMB score is useful for response monitoring in the first five years of treatment for Gaucher disease.•After five years of treatment, the BMB score remains stable and is not useful for monitoring response to treatment.•BMB scores were observed to decrease in response to ERT but not to SRT.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Undefined-1
ObjectType-Feature-3
content type line 23
ISSN:1079-9796
1096-0961
DOI:10.1016/j.bcmd.2021.102591