Background/Purpose: Osteopenia and osteoporosis (OP) have been described in patients with Gaucher disease (GD) but there are very few reports about bone mass in GD patients treated with imiglucerase. The aim of this study was to evaluate bone mineral density (BMD) and vertebral fractures (VF) in EG patients treated with imiglucerase.

Methods: We conducted a prospective, observational and descriptive study in 218 GD patients receiving enzyme replacement therapy (imiglucerase, mean dose of 54±15 U/kg [range: 11-120]) with a follow-up of 3 years. BMD was evaluated by DXA (Lunar Prodigy) to measure lumbar spine, total hip or femoral neck and total body according to age. The diagnosis of OP was performed according to WHO and ISCD criteria. The diagnosis of VF was performed with lumbar and dorsal spine by lateral Rx and by whole-body magnetic resonance. Data are expressed as mean±SD and differences were considered significant if p<0.05.

Results: 126 women (57.8%) and 92 men (42.2%) were included, mean age 27.9±15.9 years (98% had splenomegaly, 49.2% hepatomegaly and 7.9% were splenectomized). The age at diagnosis was 153±154 months (range 4-702) and the mean age of initiation of treatment was 215±173 months (range 7-835). BMD was normal in 78.2%, 5.2% showed osteopenia/low bone mass (LBM) and 16.6% osteoporosis (OP). During 1 year follow-up (n=97), 10.3% were found with OP and 8.3% wiyh LMB; at the second year (n=89) we found 6.7% OP and 7.9% LMB; while in the third year (n=53) only 3.8% showed OP and 5.6% LBM. This indicates a lower percentage of patients with OP during follow-up (chi2, p=0.0216). In the lumbar spine, a significant increase in BMD was found throughout the follow-up (percentage change: 1st year +2.48, 2nd year +4.00%, and 3rd year +6.95%). There was no significant difference in total hip or femoral neck and whole-body BMD. We excluded 25.14% of hip BMD due to the presence of avascular bone necrosis. The increase in BMD was found in <19 years old patients and in premenopausal women. 10 VF were found in females and 13 in males; 31.58% were located in low dorsal vertebrae, 21.05% lumbar, 15.79% dorsolumbar low and 31.58% high dorsal vertebrae without posterior wall compromise. High dorsal VF could only be detected by total body magnetic resonance. 45% of the fractures involved a single vertebra, 55% more than one. According to Genant classification, 13% were grade I and 87% grade II and III.

Conclusion: treatment with imiglucerase maintains and increases lumbar spine BMD in GD patients. VF findings in GD patients did not compromise the posterior wall and the whole-body magnetic resonance was useful for detecting high dorsal VF.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/bone-mineral-density-and-vertebral-fractures-in-gaucher-disease-patients-treated-with-imiglucerase/