Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1

Abstract

Purpose We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement therapy.

Materials and Methods In 17 patients with GD1, we performed 2 WB-MRI examinations at a median interval of 13 months. Patients had received enzyme replacement therapy with alglucerase/imiglucerase for a median of 13 years prior to the first examination. MRI results were retrospectively stratified based on treatment initiation into 2 groups: “early” (age ≤12 years, median 5 years) and “late” (during adulthood, median 32 years). We evaluated occurrence of irreversible avascular necroses (AVN) and applied several semi-quantitative scores, including the Bone-Marrow-Burden (BMB) score, the Düsseldorf-Gaucher score (DGS), the Vertebra-Disc-Ratio (VDR), and the Gaucher disease type 1 Severity Scoring System (GD-DS3).

Results MRI assessments showed no AVN in the “early” group. AVN were observed in 2 patients of the “late” group; one also had a splenic Gaucheroma. The follow-up examinations showed slight improvements in the BMB-score, DGS, and VDR, with similar tendencies in both treatment groups. The GD-DS3 score only improved in “late” group.

Conclusion This retrospective study supported the ongoing clinical value of enzyme replacement therapy with alglucerase/imiglucerase, as WB-MRI-based scores stayed constant or slightly improved even after long-term treatment. Secondary complications were only observed in the late treatment group. Our results suggest that “early initiation” of enzyme replacement therapy may protect the bone.

Zusammenfassung

Ziel Ziel der Arbeit war eine retrospektive Erfassung von Knochen- und viszeralen Komplikationen bei Patienten mit M. Gaucher Typ 1 mittels Ganzkörper-MRT. Insbesondere wurden Unterschiede zwischen Patienten mit frühem und späterem Start der Enzymersatztherapie analysiert.

Material und Methoden Zwei MRT-Untersuchungen (medianes Intervall: 13 Monate) wurden bei 17 Patienten mit M. Gaucher durchgeführt. Die Patienten wurden zuvor langfristig (Median: 13 Jahre) mittels Enzymersatztherapie (Alglucerase/Imiglucerase) behandelt und basierend auf dem Therapiebeginn retrospektiv in 2 Gruppen unterteilt: „früh” (Alter≤12 Jahre, Median 5 Jahre) und „spät“ (im Erwachsenenalter, Median 32 Jahre). Irreversible avaskuläre Nekrosen (AVN) wurden erfasst, zusätzlich wurden semiquantitative Scores erhoben: Bone-Marrow-Burden (BMB) Score, Düsseldorf-Gaucher Score (DGS), Vertebra-Disc-Ratio (VDR) und Gaucher disease type 1 Severity Scoring System (GD-DS3).

Ergebnisse In der Gruppe der Patienten mit „frühem” Therapiebeginn wurden keine AVN nachgewiesen, während solche bei 2 Patienten der „späten“ Therapiegruppe auftraten. Bei einem dieser Patienten war zusätzlich ein Gaucherom der Milz nachweisbar. Die Verlaufsuntersuchung zeigte leichte Verbesserungen im BMB-Score, DGS und der VDR in beiden Gruppen. Der GD-DS3 verbesserte sich nur in der „späten” Gruppe.

Schlussfolgerung Diese retrospektive Studie zeigte den fortlaufenden klinischen Wert einer Langzeitbehandlung mittels Enzymersatztherapie. Sekundärkomplikationen traten nur in der Gruppe mit spätem Therapiebeginn auf. Die Ergebnisse weisen darauf hin, dass ein früher Therapiebeginn den Knochen vor Sekundärschäden bewahren kann.

Key words

Gaucher disease - alglucerase - imiglucerase - enzyme replacement therapy - whole-body MRI

Schlüsselwörter

Morbus Gaucher - Alglucerase - Imiglucerase - Enzymersatztherapie - Ganzkörper-MRT

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