title: 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.
abstract: 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.
authors: Thalassaemia Centre, Laikon General Hospital, Athens, Greece.
authors: Veroniki
authors: V
authors: Komninaka
authors: Department of Radiology, Laikon General Hospital, Athens, Greece.
authors: Dionysia
authors: D
authors: Kolomodi
authors: Department of Haematology, 251 General Air-Force Hospital, Athens, Greece.
authors: Dimitrios
authors: D
authors: Christoulas
authors: Department of Haematology, "Georgios Gennimatas" General Hospital, Athens, Greece.
authors: Theodoros
authors: T
authors: Marinakis
authors: Department of Medical Research, 251 General Air-Force Hospital, Athens, Greece.
authors: Athanasios
authors: A
authors: Papatheodorou
authors: Thalassaemia Centre, Laikon General Hospital, Athens, Greece.
authors: Konstantina
authors: K
authors: Repa
authors: Thalassaemia Centre, Laikon General Hospital, Athens, Greece.
authors: Ersi
authors: E
authors: Voskaridou
authors: Department of Radiology, Laikon General Hospital, Athens, Greece.
authors: Konstantinos
authors: K
authors: Revenas
authors: Department of Clinical Therapeutics, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
authors: Evangelos
authors: E
authors: Terpos
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers; D001847:Bone Diseases / Q000175:diagnosis* / Q000209:etiology*; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D015415:Biomarkers
keywords: C-C motif ligand-3 (CCL-3) chemokine; Gaucher disease; bone markers; bone marrow involvement; magnetic resonance imaging