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Rofo 2015; 187(12): 1093-1098
DOI: 10.1055/s-0035-1553362
Pediatric Radiology
© Georg Thieme Verlag KG Stuttgart · New York

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI – A Retrospective Data Analysis

Evaluierung der Knochenmarkinfiltration in non-neuropathischen Gaucher-Typ-1-Patienten mittels Ganzkörper-MRT, eine retrospektive Datenanalyse
K. Laudemann
1   Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
L. Moos
1   Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
K. E. Mengel
2   Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
A. Lollert
1   Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
J. Reinke
2   Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
M. Brixius-Huth
2   Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
D. Wagner
1   Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
,
C. Düber
3   Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany
,
G. Staatz
1   Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany
› Author Affiliations
Further Information

Publication History

29 January 2015

15 June 2015

Publication Date:
22 July 2015 (online)

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Abstract

Purpose: To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT).

Materials and Methods: This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15 – 29 years, mean age 22 years and Group B: 11 females, 8 males, 29 – 77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12.5 years. Whole-body MRI was carried out in all patients using a standard MRI protocol. Two radiologists assessed all MR images retrospectively with the use of three different MRI score systems: The bone marrow burden (BMB) score, the Düsseldorf-Gaucher score (DGS) and the vertebra disc ratio (VDR). As a clinical component, severity score index type 1 (GD-DS3) was determined.

Results: In both groups the MR scores showed low to moderate pathologic levels but no statistically significant difference was found between both groups. The median scores in group A/group B were 7.00/9.00 for the BMB score (p = 0.07), 4.00/3.00 for the DGS score (p = 0.062) and 1.54/1.62 for the VDR score (p = 0.267). The GD-DS3 score was statistically significantly different between both groups (1.6/3.9, p = 0.000) and osseous Gaucher disease complications were only found in group B.

Conclusion: Bone marrow involvement and typical clinical manifestations are reduced to a minimum, when ERT starts immediately after the confirmed diagnosis of Gaucher disease type 1. The applied MR scores are useful markers to control bone marrow infiltration under enzyme replacement therapy in older patients. Pathologic MR scores in young patients may reflect postponed fat conversion of the juvenile bone marrow. This issue has to be examined in further studies.

Key Points:

• Whole-body MRI is valuable for the staging of Gaucher disease type 1.

• Osseous complications are reduced to a minimum in early treated patients.

• MR score systems have to be adjusted in young Gaucher patients.

Citation Format:

• Laudemann K, Moos L, Mengel KE et al. Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI – A Retrospective Data Analysis. Fortschr Röntgenstr 2015; 187: 1093 – 1098

Zusammenfassung

Ziel: Evaluierung der Ganzkörper-MRT für die Beurteilung der Knochenmarkinfiltration bei M.-Gaucher-Typ-1-Patienten unter Langzeit-Enzyme-Ersatz-Therapie (ERT).

Material und Methoden: Die retrospektive Datenanalyse umfasste insgesamt 38 Patienten, die in 2 Gruppen unterteilt wurden. Gruppe A: 10 wbl. Patienten, 9 ml. Patienten, 15 – 29 Jahre, Median 22 Jahre, Gruppe B: 11 wbl. Patienten, 8 ml. Patienten, 29 – 77 Jahre, Median 49 Jahre. Das Ganzkörper-MRT wurde bei allen Patienten mittels standardisierten Untersuchungsprotokolls durchgeführt. Zwei Radiologen werteten retrospektiv alle GK-MRT anhand von drei verschiedenen MR-Scores im Konsensus aus. Bestimmt wurden der Bone-Marrow-Burden-Score (BMB), der Düsseldorfer-Gaucher-Score (DGS) und die Vertebra-Disc-Ratio. Zudem wurde der Severity-Score-Index Typ 1 (GD-DS3) als ein nicht semiquantitativer klinischer Score angewandt.

Ergebnisse: Für beide Gruppen lagen die ermittelten MR-Scores im niedrig bis moderat pathologischen Bereich. Die statistische Auswertung der MR-Scores ergab keinen signifikanten Unterschied zwischen beiden Gruppen. Der Median für Gruppe A/Gruppe B lag für den BMB-Score bei 7,00/9,00 (p = 0,07), für den DGS-Score bei 4,00/3,00 (p = 0,062) und für den VDR-Score bei 1,54/1,62 (p = 0,267). Im Gegensatz dazu war der GD-DS3-Score statistisch signifikant unterschiedlich zwischen beiden Gruppen (1,6/3,9, p = 0,000) und Knochenkomplikationen wurden nur in Gruppe B gefunden.

Schlussfolgerung: Knochenmarkbeteiligung und die für die Gaucher-Krankheit typischen klinischen Manifestationen sind bei frühzeitiger Langzeit-ERT auf ein Minimum reduziert. Die angewandten MR-Scores sind ein hilfreiches Mittel für das Monitoring der Knochenmarkinfiltration bei älteren Gaucher-Typ-1-Patienten. Pathologische MR-Scores bei jungen Gaucher-Patienten weisen möglicherweise auf eine verzögerte Fettmarkkonvertierung des jungen Knochenmarks hin.

Kernaussagen:

• Das Ganzkörper-MRT ist hilfreich für das Staging von Gaucher-Typ-1-Patienten.

• Knochenkomplikationen sind bei frühzeitigem Beginn einer Langzeit-ERT auf ein Minimum reduziert.

• Die etablierten MR-Scores müssen zukünftig für junge Gaucher-Patienten angepasst werden.

Key words

Gaucher disease - whole-body MRI - MRI score system - MR imaging - bones
 

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