Related Experiment Video
Updated: Apr 14, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement
Benjamin Fedida1, Sébastien Touraine, Jerôme Stirnemann
1Department of Musculoskeletal Imaging, Hôpital Lariboisière, AP-HP, 2 rue Ambroise Paré, 75475, Paris Cedex 10, France, benjamin-fedida@hotmail.fr.
Purpose:
To study the long-term evolution of the bone marrow burden (BMB) score at MRI in patients with Gaucher disease (GD) under enzyme replacement therapy (ERT).
Material And Methods:
Forty patients treated for GD were retrospectively studied in a referral centre. BMB scores were assessed on spine and femur MR examinations performed between January 2003 and June 2014. The long-term evolution of the BMB scores was analyzed using a linear mixed model.
Results:
A total of 121 MRI examinations were performed during the study period with a mean follow-up of 7.1 years ± 5.6, an average rate of 3.1 MR examinations ± 1.7 per patient and an interval of 2.3 years ± 1.1 between examinations. Patients had received ERT during 12 years on average ± 6.7. The trend of BMB scores with time decreased significantly by 15% (P = 0.008) during the total study period and 39% (P = 0.01) during the first 5 years of treatment. No changes in BMB scores were observed after five years of treatment.
Conclusion:
In Gaucher patients, the trend of MRI BMB scores with time decreased significantly under ERT the first 5 years of treatment before a long-term stabilization.
Key Points:
• Bone marrow infiltration of Gaucher patients responds to enzyme replacement therapy • MRI BMB score decreases mainly during the first five years of treatment • MRI BMB score tends to stabilize after five years of treatment • MR examinations could be limited after five years of treatment.
