A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina

Gaucher disease (GD) is the most prevalent lysosomal storage disease, and bone involvement is the most disabling condition. The aim of the present study was to evaluate bone involvement in adult patients with GD, using an observational cross-sectional study. Patients were evaluated using X-rays, bon...

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Detalles Bibliográficos
Autores principales: Oliveri, Beatriz, González, Diana, Quiroga, Felisa, Silva, Claudio, Rozenfeld, Paula Adriana
Formato: Articulo
Lenguaje:Inglés
Publicado: 2019
Materias:
Ciencias Médicas
Gaucher disease
Skeletal complications
Velaglucerase
Bone involvement
Bone quality or TBS
Bone markers
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/131403
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-131403
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Médicas
Gaucher disease
Skeletal complications
Velaglucerase
Bone involvement
Bone quality or TBS
Bone markers
spellingShingle Ciencias Médicas
Gaucher disease
Skeletal complications
Velaglucerase
Bone involvement
Bone quality or TBS
Bone markers
Oliveri, Beatriz
González, Diana
Quiroga, Felisa
Silva, Claudio
Rozenfeld, Paula Adriana
A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
topic_facet Ciencias Médicas
Gaucher disease
Skeletal complications
Velaglucerase
Bone involvement
Bone quality or TBS
Bone markers
description Gaucher disease (GD) is the most prevalent lysosomal storage disease, and bone involvement is the most disabling condition. The aim of the present study was to evaluate bone involvement in adult patients with GD, using an observational cross-sectional study. Patients were evaluated using X-rays, bone densitometry (BMD), trabecular bone score (TBS), magnetic resonance imaging (MRI), and biochemical bone markers. Thirty-two type 1GD patients were included (mean age: 40 ± 16 years). Patients had received velaglucerase for 2.7 ± 1.4 years; 19/32 had been treated previously with imiglucerase. Ninety-four percent of subjects met therapeutic goals for hematological parameters, and eight were splenectomized (SPX). Nineteen patients had irreversible bone lesions (IL), i.e., avascular necrosis, bone infarction, and/or vertebral fractures. MRI showed marrow infiltration in 71% of patients. Patients with IL had higher bone marrow burden than those without (p = 0.001). All SPX patients had IL, a higher prevalence of bone marrow edema (p = 0.02), and lower TBS (p = 0.03) than non-SPX patients. Only 18.7% of patients had abnormal BMD, with no correlation with fractures (FX). TBS values were < 1350 in 53% of patients and tended to be lower in those with FX (p = 0.06). Patients with P1NP in the lower quartile had lower TBS (p = 0.03) than those with P1NP in the higher quartiles. TBS correlated moderately but not significantly with P1NP (r = 0.32) and BMB (r = − 0.44). A high prevalence of IL was documented. Bone quality was more affected than BMD in fracture patients. Low bone formation, active bone marrow infiltration, and splenectomy might be implicated in IL.
format Articulo
Articulo
author Oliveri, Beatriz
González, Diana
Quiroga, Felisa
Silva, Claudio
Rozenfeld, Paula Adriana
author_facet Oliveri, Beatriz
González, Diana
Quiroga, Felisa
Silva, Claudio
Rozenfeld, Paula Adriana
author_sort Oliveri, Beatriz
title A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
title_short A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
title_full A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
title_fullStr A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
title_full_unstemmed A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina
title_sort comprehensive study of bone manifestations in adult gaucher disease type 1 patients in argentina
publishDate 2019
url http://sedici.unlp.edu.ar/handle/10915/131403
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