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.

Hepatic, Splenic, and Bone Marrow Gaucheromas: A Case Series and Systematic Literature Review

“…Literature search results are summarized and presented in Table I [11][12][13][14][15][16][17][18][19][20]. Besides single cases that were reported, only 4 articles included more patients that were monitored and only 3 articles reported more than one Gaucheroma.…”

The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy

“…A post hoc analysis of 12 patients with Type 1 Gaucher disease who participated in a phase I/II trial of velaglucerase alfa suggested that improvements in lumbar spine bone marrow burden were maintained through 7 years of ERT in eight patients with data [ 11 ]. Although several reports have described the effects of ERT on bone marrow involvement in adult patients with Type 1 Gaucher disease, most long-term data are obtained from small numbers of patients with median treatment durations of <15 years, receiving high-dose regimens, and with methods less quantitative than QCSI [ 12 , 13 , 14 , 15 , 16 , 17 ].…”