Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density

M. Baldini, G. Casirati, F. M. Ulivieri, E. Cassinerio, K. Khouri Chalouhi, E. Poggiali, L. Borin, V. Burghignoli, B. M. Cesana, M. D. Cappellini

Research output: Contribution to journalArticlepeer-review


Gaucher disease is characterized by multi-organ infiltration of phospholipid-laden macrophages. Bone involvement is characterized by typical deformities, osteopenia/osteoporosis, pathological fractures, and bone marrow infiltration (avascular osteonecrosis, infarction). Estimation of skeletal disease includes bone quality that contributes substantially to bone strength. We studied 23 type 1 Gaucher patients (median age 22. years, range 3-73) on Enzyme Replacement Therapy from 2. months to 26. years (median 7. years); 4 patients had pathological fractures, 10 bone infarctions, 6 avascular osteonecrosis. We noninvasively assessed bone quality by trabecular microarchitecture and macroscopic geometry, using two innovative dual-energy X-ray absorptiometry tools: Trabecular Bone Score (TBS) and Hip Structural Analysis (HSA). Bone quality parameters distinguished the patients with skeletal complications. TBS was significantly lower in patients with avascular osteonecrosis (p = 0.049) and pathological fractures (p = 0.024), while it could not identify those with bone infarctions. Among HSA parameters, the Cross Sectional Area of the intertrochanteric region and the Buckling Ratio of the narrow neck allowed the distinction of patients with avascular osteonecrosis. BMD was low in 11 patients (50%); neither BMD nor HSA were associated with pathological fractures. The combined evaluation of bone quality and bone quantity is useful to identify GD patients with more severe skeletal involvement.

Original languageEnglish
Pages (from-to)148-152
JournalBlood Cells, Molecules, and Diseases
Publication statusPublished - 2018


  • Bone quality
  • Gaucher disease
  • Skeletal complications
  • Trabecular bone score

ASJC Scopus subject areas

  • Molecular Medicine
  • Hematology
  • Molecular Biology
  • Cell Biology


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