Evaluation of bone involvement in patients with Gaucher disease: a semi-quantitative magnetic resonance imaging method (using ROI estimation of bone lesion) as an alternative method to semi-quantitative methods used so far.

Komninaka, Veroniki; Kolomodi, Dionysia; Christoulas, Dimitrios; Marinakis, Theodoros; Papatheodorou, Athanasios; Repa, Konstantina; Voskaridou, Ersi; Revenas, Konstantinos; Terpos, Evangelos

Objective The aim of this study was to evaluate bone involvement in patients with Gaucher disease ( GD) and to propose a novel semi-quantitative magnetic resonance imaging ( MRI) staging. Methods MRI of the lumbar spine, femur, and tibia was performed in 24 patients with GD and 24 healthy controls. We also measured circulating levels of C-C motif ligand-3 ( CCL-3) chemokine, C-telopeptide of collagen type-1 ( CTX), and tartrate-resistant acid phosphatase isoform type-b ( TRACP-5b). Results We used the following staging based on MRI data: stage I: region of interest ( ROI) 1/2 of normal values and bone infiltration up to 30%; stage II: ROI 1/3 of normal values and bone infiltration from 30 to 60%; stage III: ROI 1/4 of normal values and bone infiltration from 60% to 80%; and stage IV: detection of epiphyseal infiltration, osteonecrosis and deformity regardless of the ROI's values. All but two patients had abnormal MRI findings: 9 (37.5%), 6 (25%), 3 (12.5%), and 4 (16.7%) had stages I-IV, respectively. Patients with GD had elevated chitotriosidase, serum TRACP-5b, and CCL-3 levels ( P < 0.001). Conclusions We propose an easily reproducible semi-quantitative scoring system and confirm that patients with GD have abnormal MRI bone findings and enhanced osteoclast activity possibly due to elevated CCL-3.

GAUCHER'S disease; MAGNETIC resonance imaging; LUMBAR vertebrae; BONE marrow; OSTEONECROSIS

European Journal of Haematology, 2015, Vol 95, Issue 4, p342

0902-4441

Academic Journal

10.1111/ejh.12504