TY - JOUR
T1 - 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
AU - Paskulin, Livia d.Ávila
AU - Starosta, Rodrigo Tzovenos
AU - Bertholdo, Débora
AU - Vairo, Filippo Pinto
AU - Vedolin, Leonardo
AU - Schwartz, Ida Vanessa Doederlein
N1 - Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2021/9
Y1 - 2021/9
N2 - Introduction: 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. Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.
AB - Introduction: 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. Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.
KW - Bone marrow burden
KW - Enzyme replacement therapy
KW - Gaucher disease
KW - MRI
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U2 - 10.1016/j.bcmd.2021.102591
DO - 10.1016/j.bcmd.2021.102591
M3 - Article
C2 - 34242856
AN - SCOPUS:85109158148
SN - 1079-9796
VL - 90
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
M1 - 102591
ER -