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Am J Hematol. 2016 Oct;91(10):E448-53. doi: 10.1002/ajh.24486. Epub 2016 Aug 22.

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

Author information

1
Hospital de Niños "Ricardo Gutiérrez", CABA. drgdrelichman@yahoo.com.ar.
2
Hospital de Niños "Ricardo Gutiérrez", CABA.
3
Hospital C. Milstein, CABA.
4
Centro de Diagnóstico E. Rossi, CABA.
5
Laboratorio de Neuroquímica "Dr. N.A Chamoles", CABA.
6
Hospital de Niños "Sor María Ludovica", La Plata, Prov. Buenos Aires.
7
Hospital CEPSI Eva Perón, Santiago del Estero.
8
Hospital Provincial de Niños "Santa Trinidad", Córdoba.
9
Hospital Ramos Mejía, CABA.
10
Hospital de Niños "Pedro de Elizalde", CABA.
11
Hospital "Dr. Julio C. Perrando", Chaco.
12
Hospital del Niño Jesús, Tucumán.
13
Hospital Iturraspe, Santa Fe.
14
Instituto Médico Platense, La Plata.
15
Hospital de Oncología "M. Curie" Buenos Aires.
16
Clínica Modelo de Tandil, Pcia.Buenos Aires.
17
Clínica del Niño del Rosario, Santa Fe.
18
Hospital Escuela de Corrientes.
19
Hospital Materno Infantil de Mar del Plata, Pcia. Buenos Aires.
20
Hospital de Del Viso, Pcia. Buenos Aires.
21
Hospital de San Martín, La Plata.
22
Hospital Alemán, CABA.
23
Hospital Pirovano, CABA.
24
Hospital de Niños de San Justo, Pcia. Buenos Aires.
25
Sanatorio General Sarmiento, Pcia. Buenos Aires.
26
Hospital Durand, CABA.
27
Consultorio Particular, Mar del Plata, Prov. Buenos Aires.
28
Sanatorio Allende de Córdoba.
29
Hospital Centenario, Gualeguaychu, Entre Ríos.
30
Hospital Lagomaggiore, Mendoza.
31
Equipo de Infusiones domiciliarias, CABA.
32
SAMIC, Eldorado.
33
Hospital Provincial de Pediatría, Posadas.
34
Hospital La Madre y el Niño, Formosa.
35
Sanatorio San Lucas, Neuquén.
36
Hospital Paroissien, Prov. Buenos Aires.
37
FLENI CABA.
38
Hospital Austral, Prov. Buenos Aires.
39
Hospital C. Argerich CABA.
40
Hospital General de Agudos López y Planes.
41
Consultorio hematológico CABA.
42
Hospital Ferroviario, Tucumán.
43
Academia Nacional de Medicina, CABA.
44
Hospital Álvarez, CABA.
45
Hospital Italiano de CABA.
46
Hospital Marcial Quiroga San Juan.
47
Hospital privado del sur, Bahía Blanca.
48
Hospital Nacional "Profesor Alejandro Posadas", L.
49
Hospital Militar Central.
50
Instituto de investigaciones médicas, CABA.
51
Sanatorio General Sarmiento, La Pampa.
52
Sanatorio Güemes, CABA.
53
Hospital Ángela Iglesias de Llano, Corrientes.
54
Hospital Pediátrico Juan Pablo II, Corrientes.
55
Hospital SAMCO Dr. Jaime Ferre, Santa Fé
56
Centro de salud Las Palmas, Corrientes.
57
Hospital Materno Infantil, Salta.
58
Consultorio privado, Chaco.
59
Hospital Vicente López y Planes, General Rodríguez.

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.

PMID:
27420181
DOI:
10.1002/ajh.24486
[Indexed for MEDLINE]
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