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1. Evaluation of Bone Mineral Density in Patients with Type 1 Gaucher Disease in Argentina

Author

M. Rapetti, Maria Silvia Larroude, M. Alvarez Bollea, Adriana Arizo, K. Muller, G. Pujal, Marta Dragosky, Norberto Guelbert, A. Degano, Gabriel Aguilar, Leonardo Feldman, Hugo Robledo, Sandra Zirone, Graciela Elena, A. Albina, R. Jaureguiberry, Alba A Ruiz, M. Slago, Andrea Schenone, Juan Jose Chain, G. Galvan, Nora Watman, Gustavo L. Kantor, Alcira Fynn, Julieta Bietti, P. Reichel, N. Fernandez Escobar, Guillermo Drelichman, R. Fernandez, F. Del Rio, M. Marquez, Alejandra Maro, Marcela A Aznar, G. Zarate, Ignacio Rossi, M.A. Barbieri, V. Bacciedoni, M. Bolesina, H. Arrocena, I. Fernandez, Nora Basack, G. Fernandez, G. Buchovsky, V. Lanza, María Fernanda Cuello, and S. E. Veber

Subjects
musculoskeletal diseases, 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Osteoporosis, Argentina, 030209 endocrinology & metabolism, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Absorptiometry, Photon, Bone Density, medicine, Humans, Radiology, Nuclear Medicine and imaging, Orthopedics and Sports Medicine, In patient, Child, Femoral neck, Aged, Bone mineral, Gaucher Disease, Lumbar Vertebrae, business.industry, Femur Neck, Type 1 Gaucher Disease, Enzyme replacement therapy, Middle Aged, medicine.disease, Surgery, Osteopenia, Bone Diseases, Metabolic, medicine.anatomical_structure, Female, 030101 anatomy & morphology, Densitometry, Nuclear medicine, business
Abstract

The purpose of this study was to evaluate the frequency of osteoporosis (OP) in patients with Gaucher disease (GD) in Argentina. GD patients from 28 centers were consecutively included from April 2012 to 2014. Bone mineral density (BMD) was determined by dual X-ray absorptiometry in the lumbar spine and the femoral neck or the total proximal femur for patients ≥20 yr of age, and by whole-body scan in the lumbar spine in patients20 yr of age. In children, mineral density was calculated using the chronological age and Z height. OP diagnosis was determined following adult and pediatric official position of the International Society for Clinical Densitometry. A total of 116 patients were included, of which 62 (53.5%) were women. The median age was 25.8 yr. All patients received enzyme replacement therapy, with a median time of 9.4 yr. Normal BMD was found in 89 patients (76.7%), whereas low bone mass (LBM) or osteopenia was found in 15 patients (13%) and OP in 12 patients (10.3%). The analysis of the pediatric population revealed that 4 patients (9.3%) had LBM and 3 (7%) had OP (Z-score ≤ -2 + fractures height-adjusted by Z), whereas in the adult population (n = 73), 11 patients (15%) had LBM or osteopenia and 9 (12.3%) had OP. Bone marrow infiltration and the presence of fractures were significantly correlated with the presence of OP (p = 0.04 and0.001, respectively). This is the first study in Argentina and in the region describing the frequency of OP or LBM in GD patients treated with imiglucerase using the official position of the International Society for Clinical Densitometry.

Published
2016

2. Evaluation of Bone Mineral Density in Patients with Type 1 Gaucher Disease in Argentina.

Author

Larroudé MS, Aguilar G, Rossi I, Drelichman G, Fernandez Escobar N, Basack N, Slago M, Schenone A, Fynn A, Cuello MF, Fernandez R, Ruiz A, Reichel P, Guelbert N, Robledo H, Watman N, Bolesina M, Elena G, Veber SE, Pujal G, Galvan G, Chain JJ, Arizo A, Bietti J, Aznar M, Dragosky M, Marquez M, Feldman L, Muller K, Zirone S, Buchovsky G, Lanza V, Fernandez I, Jaureguiberry R, Barbieri MA, Maro A, Zarate G, Fernandez G, Rapetti M, Degano A, Kantor G, Albina A, Alvarez Bollea M, Arrocena H, Bacciedoni V, and Del Rio F

Subjects
Adolescent, Adult, Aged, Argentina epidemiology, Bone Density, Bone Diseases, Metabolic complications, Bone Diseases, Metabolic diagnostic imaging, Bone Diseases, Metabolic epidemiology, Child, Female, Femur Neck diagnostic imaging, Gaucher Disease epidemiology, Humans, Lumbar Vertebrae diagnostic imaging, Male, Middle Aged, Osteoporosis epidemiology, Young Adult, Absorptiometry, Photon methods, Gaucher Disease complications, Osteoporosis complications, Osteoporosis diagnostic imaging
Abstract

The purpose of this study was to evaluate the frequency of osteoporosis (OP) in patients with Gaucher disease (GD) in Argentina. GD patients from 28 centers were consecutively included from April 2012 to 2014. Bone mineral density (BMD) was determined by dual X-ray absorptiometry in the lumbar spine and the femoral neck or the total proximal femur for patients ≥20 yr of age, and by whole-body scan in the lumbar spine in patients <20 yr of age. In children, mineral density was calculated using the chronological age and Z height. OP diagnosis was determined following adult and pediatric official position of the International Society for Clinical Densitometry. A total of 116 patients were included, of which 62 (53.5%) were women. The median age was 25.8 yr. All patients received enzyme replacement therapy, with a median time of 9.4 yr. Normal BMD was found in 89 patients (76.7%), whereas low bone mass (LBM) or osteopenia was found in 15 patients (13%) and OP in 12 patients (10.3%). The analysis of the pediatric population revealed that 4 patients (9.3%) had LBM and 3 (7%) had OP (Z-score ≤ -2 + fractures height-adjusted by Z), whereas in the adult population (n = 73), 11 patients (15%) had LBM or osteopenia and 9 (12.3%) had OP. Bone marrow infiltration and the presence of fractures were significantly correlated with the presence of OP (p = 0.04 and <0.001, respectively). This is the first study in Argentina and in the region describing the frequency of OP or LBM in GD patients treated with imiglucerase using the official position of the International Society for Clinical Densitometry., (Copyright © 2016 International Society for Clinical Densitometry. Published by Elsevier Inc. All rights reserved.)

Published
2016
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3. Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.

Author

Drelichman G, Fernández Escobar N, Basack N, Aversa L, Larroude MS, Aguilar G, Szlago M, Schenone A, Fynn A, Cuello MF, Aznar M, Fernández R, Ruiz A, Reichel P, Guelbert N, Robledo H, Watman N, Bolesina M, Elena G, Veber SE, Pujal G, Galván G, Chain JJ, Arizo A, Bietti J, Bar D, Dragosky M, Marquez M, Feldman L, Muller K, Zirone S, Buchovsky G, Lanza V, Sanabria A, Fernández I, Jaureguiberry R, Contte M, Barbieri María A, Maro A, Zárate G, Fernández G, Rapetti MC, Donato H, Degano A, Kantor G, Albina R, Á Lvarez Bollea M, Brun M, Bacciedoni V, Del Río F, Soberón B, Boido N, Schweri M, Borchichi S, Welsh V, Corrales M, Cedola A, Carvani A, Diez B, Richard L, Baduel C, Nuñez G, Colimodio R, Barazzutti L, Medici H, Meschengieser S, Damiani G, Nucifora M, Girardi B, Gómez S, Papucci M, Verón D, Quiroga L, Carro G, De Ambrosio P, Ferro J, Pujol M, Castella CC, Franco L, Nisnovich G, Veloso M, Pacheco I, Savarino M, Marino A, and Saavedra JL

Subjects
Adolescent, Adult, Aged, Argentina, Bone Diseases etiology, Bone Diseases pathology, Child, Early Diagnosis, Enzyme Replacement Therapy, Gaucher Disease diagnosis, Gaucher Disease drug therapy, Gaucher Disease epidemiology, Humans, Medication Adherence, Middle Aged, Phenotype, Prognosis, Risk Assessment, Splenectomy, Young Adult, beta-Glucosidase therapeutic use, Bone Diseases diagnosis, Gaucher Disease complications
Abstract

Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0. 16% of patients showed new irreversible BL (bone infarcts and avascular osteonecrosis) despite ERT, suggesting that they appeared during ERT or were not detected at the moment of diagnosis. We observed 5 prognostic factors that predicted a higher probability of being free of bone disease: optimal ERT compliance; early diagnosis; timely initiation of therapy; ERT initiation dose ≥45 UI/kg/EOW; and the absence of history of splenectomy. Skeletal involvement was classified into 4 major phenotypic groups according to BL: group 1 (12.9%) without BL; group 2 (28.2%) with reversible BL; group 3 (41.9%) with reversible BL and irreversible chronic BL; and group 4 (16.9%) with acute irreversible BL. Our study identifies prognostic factors for achieving best therapeutic outcomes, introduces new risk stratification for patients and suggests the need for a redefinition of bone TG. Am. J. Hematol. 91:E448-E453, 2016. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

Published
2016
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