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

2016; Wiley; Volume: 91; Issue: 10 Linguagem: Inglês

10.1002/ajh.24486

1096-8652

Guillermo Drelichman, Nicolás Fernández Escobar, Nora Basack, Luis Aversa, María Silvia Larroudé, Gabriela Aguilar, Marina Szlago, Andrea Schenone, Alcyra Fynn, María F. Cuello, Marcela Aznar, Ramiro Fernández, Alba Ruiz, Paola Reichel, Norberto Guelbert, Hugo Robledo, Nora Watman, Moira Bolesina, Graciela Elena, Samuel Ernesto Veber, Graciela Pujal, Graciela Zambrano Galván, Juan José Chain, Adriana Arizó, Julieta Bietti, Daniel Bär, Marta Dragosky, Marisa Marquez, Leonardo Feldman, Katja G Muller, Sandra Zirone, Greogorio Buchovsky, Victoria Lanza, Alba Sanabria, I. Fuentes Fernández, Rossana Jaureguiberry, Marcelo Contte, Angie Barbieri María, Alejandra Maro, Graciela Zárate, Gabriel Fernández, María Cristina Rapetti, Hugo Donato, Adriana Degano, Gustavo L. Kantor, Roberto Albina, Maria Alvarez Bollea, María Brun, Viviana Bacciedoni, F del Río, Barbara C. Soberon, Nazario Boido, Maya Schweri, Sandra Borchichi, Victoria Welsh, Marcela Corrales, Alejandra Cédola, Analía Carvani, Blanca Diez, Lucía Richard, Ccecilia Baduel, Gabriela Núñez, Rubén Colimodio, Lucía Barazzutti, Hugo Medici, Susana Meschengieser, Germán Damiani, María L Nucifora, Beatriz Girardi, Sergio Zepeda Gómez, Maura Papucci, David Verón, Luis Quiroga, Gustavo Carro, Patricia De Ambrosio, José M. Ferro, M Pujol, Cristina Castellà, Liliana Franco, Gisela Nisnovich, M.T. Rigueiro Veloso, Isabel Baños Pacheco, Mario Savarino, Andrés Marino, José Luis Saavedra Torres,

Neurogenetic and Muscular Disorders Research

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.