Quantification of Bone Involvement in Gaucher Disease: MR Imaging Bone Marrow Burden Score as an Alternative to Dixon Quantitative Chemical Shift MR Imaging—Initial Experience

Maas, Mario; Kuijk, Cornelis van; Stoker, Jaap; Hollak, Carla E. M.; Akkerman, Erik M.; Aerts, Johannes M. F. G.; Heeten, Gerard J. den

doi:10.1148/radiol.2292020296

Cited by 154 publications

(103 citation statements)

References 30 publications

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“…All data analysis and publication are of de-identified information. All skeletal MRI scans are formally evaluated for bone marrow burden according to the scoring systems of Terk and Maas [3,4] by a single radiologist experienced in Gaucher disease imaging. [5] Of the 24 type 1 Gaucher disease patients who were allocated to a drug holiday during the imiglucerase rationing period, two recommenced therapy with another company's ERT, on a clinical trial, prior to the end of the 6 months due to a deterioration of their clinical state.…”

Section: Methodsmentioning

confidence: 99%

Interruption of enzyme replacement therapy in Gaucher disease

et al. 2016

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Section: Methodsmentioning

confidence: 99%

Interruption of enzyme replacement therapy in Gaucher disease

et al. 2016

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“…The most commonly used semi-quantitative method is the bone marrow burden (BMB) score, which was developed using signal intensity changes at sites of involvement in the peripheral skeleton to generate a single score that reflects bone disease severity (both axial and peripheral bone marrow in GD patients). 57 Based on the most recent recommendations by Giuffrida et al 49 MRIs should be conducted at baseline and followed up every year if the normalized score is >1, every 2 years if the normalized score is ≤ 1, and every 3 years in stable patients with good metabolic control and consistently normalized scores ≤ 1.…”

Section: Magnetic Resonance Imagingmentioning

confidence: 99%

Doença De Gaucher Tipo 1 No Esqueleto: Revisão Da América Latina

2016

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Gaucher disease (GD) is the most prevalent lysosomal storage disease, and is characterized by the accumulation of glucosylceramide and glucosylsphingosine in tissues throughout the body. With the advent of enzyme replacement therapy, the prognosis for patients with GD has dramatically improved. Still, the skeletal manifestations associated with GD respond slowly to enzyme replacement therapy and are the most significant contributor of disease related patient morbidity. This review of bone manifestations in GD presents the most recent theories on its pathophysiology, and gives a systematic review of studies with Latin American patients that report the frequency of bone manifestations and the effects of enzyme replacement therapy on their treatment. We conclude by emphasizing the importance of early identification and proper management at appropriate dosage levels of enzyme replacement therapy to reduce the morbidity caused by GD.Keywords: Gaucher disease; Skeleton; Prevalence; Latin America. RESUMO A doença de Gaucher (DG) é a doença de depósito lisossômico mais prevalente, que se caracteriza pelo acúmulo de glicosilceramida e glucosilesfingosina em todos os tecidos do corpo. Com o advento da terapia de reposição de enzimas, o prognóstico dos pacientes com DG melhorou acentuadamente. Ainda assim, as manifestações esqueléticas associadas à DG respondem lentamente à terapia de reposição de enzimas e são as que contribuem de forma mais significativa para a morbidade do paciente. Esta revisão das manifestações ósseas da DG apresenta as mais recentes teorias sobre a sua fisiopatologia e uma revisão sistemática de estudos com pacientes latino-americanos que relataram a frequência das manifestações ósseas e os efeitos da terapia de reposição de enzimas

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“…At least seven different (semi-)quantitative scoring systems can be employed for magnetic resonance evaluation of the bone marrow. [12][13][14][15][16][17] Among several methods proposed in the past 18 two different scintigraphic approaches are applicable routinely: 99m Tc-radiocolloid bone marrow scintigraphy and scintigraphy with 99m Tc-sestamibi. 19,20 Thus, at least nine different bone marrow infiltration scores (seven MRI-based, two scintigraphy-based) can be employed to assess severity of basically the same pathological event: bone marrow infiltration by Gaucher cells.…”

Section: Skeletal Domainmentioning

confidence: 99%

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

Rocco¹,

Giona²,

Carubbi³

et al. 2008

Haematologica

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BackgroundGaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinical response justifies the development of a severity score index to assess disease activity, stage and prognosis, and to quantify the effects of treatment.

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Quantification of Bone Involvement in Gaucher Disease: MR Imaging Bone Marrow Burden Score as an Alternative to Dixon Quantitative Chemical Shift MR Imaging—Initial Experience

Abstract: BMB is a reproducible semiquantitative scoring system that is easy to use. It combines MR imaging of both axial and peripheral bone marrow and shows a significant correlation with QCSI.

Cited by 154 publications

References 30 publications

Interruption of enzyme replacement therapy in Gaucher disease

Interruption of enzyme replacement therapy in Gaucher disease

Doença De Gaucher Tipo 1 No Esqueleto: Revisão Da América Latina

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

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