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

• Published in: Blood cells, molecules, & diseases Vol. 68; pp. 148 - 152
• Main Authors: Baldini, M., Casirati, G., Ulivieri, F.M., Cassinerio, E., Khouri Chalouhi, K., Poggiali, E., Borin, L., Burghignoli, V., Cesana, B.M., Cappellini, M.D.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2018
• Subjects: Absorptiometry, Photon; Adolescent; Adult; Aged; Bone and Bones - diagnostic imaging; Bone and Bones - pathology; Bone Density; Bone Diseases - diagnostic imaging; Bone Diseases - etiology; Bone Diseases - pathology; Bone quality; Cancellous Bone - diagnostic imaging; Cancellous Bone - pathology; Child; Child, Preschool; Enzyme Replacement Therapy; Female; Gaucher disease; Gaucher Disease - complications; Gaucher Disease - diagnostic imaging; Gaucher Disease - drug therapy; Gaucher Disease - pathology; Humans; Infant; Male; Middle Aged; Skeletal complications; Trabecular bone score; Young Adult; Bone quality; Gaucher disease; Trabecular bone score; Skeletal complications
• ISSN: 1079-9796; 1096-0961
• DOI: 10.1016/j.bcmd.2017.06.003

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 22years, range 3–73) on Enzyme Replacement Therapy from 2months to 26years (median 7years); 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.