1. Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients
- Author
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Gabriel Fernández, José Ferro, María Veloso, Marta Dragosky, Nazario Boido, Ramiro Fernández, Liliana Franco, Sandra Zirone, Roberto Albina, Victoria Lanza, Susana S. Meschengieser, Hugo Medici, Nicolás Fernández Escobar, Lucia Barazzutti, Graciela Elena, Andrea Schenone, José Luis Saavedra, Analía Carvani, Greogorio Buchovsky, Luis Aversa, Alejandra Cedola, David Verón, Katja Muller, Nora Watman, Beatriz Girardi, Marcela Corrales, Graciela Galván, Marcelo Contte, Angie Barbieri María, Gabriela Nuñez, Luis Quiroga, Gabriela Aguilar, Alba Ruiz, Julieta Bietti, Marisa Marquez, Lucía Richard, Hugo Robledo, Paola Reichel, Graciela Zárate, Leonardo Feldman, María Fernanda Cuello, Sergio Gómez, Victoria Welsh, Francis Del Río, Mario Savarino, María Á Lvarez Bollea, María Silvia Larroude, Andrés Marino, Marcela Aznar, Moira Bolesina, Cristina Cabral Castella, S Ernesto Veber, Gustavo Kantor, Patricia De Ambrosio, Daniel Bar, Adriana Degano, Alba Sanabria, Viviana Bacciedoni, Norberto Guelbert, Rubén Colimodio, María Nucifora, Marcelo Pujol, Adriana Arizo, Alcyra Fynn, Germán Damiani, Nora Basack, Juan José Chain, Bárbara Soberón, Graciela Pujal, María Brun, Sandra Borchichi, Gisela Nisnovich, Rossana Jaureguiberry, Gustavo Carro, Marina Szlago, Hugo Donato, Alejandra Maro, Ccecilia Baduel, Blanca Diez, María Cristina Rapetti, Isabel Pacheco, Maura Papucci, Guillermo Drelichman, Maya Schweri, and Ignacio Fernández
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Bone disease ,business.industry ,medicine.medical_treatment ,Splenectomy ,nutritional and metabolic diseases ,Hematology ,Disease ,Enzyme replacement therapy ,medicine.disease ,Gastroenterology ,Surgery ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Multicenter study ,030220 oncology & carcinogenesis ,Internal medicine ,medicine ,Observational study ,Young adult ,medicine.symptom ,business ,Bone pain - 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.
- Published
- 2016
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