Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).
Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).
Method: Lumbar spine (LS) (L2L4, N: 34) and total body (TB) (N: 24) bone mineral density (BMD) (determined by dual-energy X-ray absorptiometry (DXA) (GE Lunar), were performed and expressed as Z-scores. According to the International Society of Clinical Densitometry guidelines, a Z-score ≤−2.0 was considered pathological. Results were expressed in X±S.D.. Patients received imiglucerase infusions (57.7±17.4 IU/kg), during a period of 7.7±4.5 years. They were divided in two groups: pre pubertal (G1) and pubertal (G2), both for boys (G1BG2B) and girls (G1GG2G).
Results: Mean BMD were normal in the whole group: −0.26±1.4 and 0.11±1.3 in LS and TB respectively. Only two patients had LS BMD below −2.0 Z-score, but none in TB BMD. BMD was: G1B: LS −0.6±1.28; G2B: −0.15±1.4, TB −0.07±1.4 and 0.58±1.2; and G1G: LS: −0.23±1.4, G2G −0.56±1.9; TB G1G −0.08±0.9, G2G 0.05±1.9 respectively.
Conclusion: Patients with GD receiving therapy with imiglucerase have normal BMD during. It seems that the pubertal groups are better than de pre pubertal, reflecting the action of sexual steroids on bone. A longitudinal study is needed to confirm this.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology