Calcified Tissue International

, Volume 104, Issue 6, pp 650–657 | Cite as

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

  • Beatriz OliveriEmail author
  • Diana González
  • Felisa Quiroga
  • Claudio Silva
  • Paula Rozenfeld
Original Research


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.


Gaucher disease Skeletal complications Velaglucerase Bone involvement Bone quality or TBS Bone markers 



The authors thank the following haematologists who collaborated in the recruitment of the patients: Arizo A, Aznar M, Bolesina M, Fernandez Sasso D., Fernandez V, Fondevila C, Guelbert N, Meschengeiser S, Murieda B, Navarro G, Onelda G, Rocaspana A, Romero Maciel A, Ruiz A., Santini F, Sanchez G, Stivel M, Watman N.

Author Contributions

OB participated in the study design, acquisition and analysis of data, and drafting and revision of the manuscript. GD participated in the acquisition and analysis of data and drafting and revision of the manuscript. SC and QF participated in acquisition of data, RP participated in acquisition of data and critical review of the manuscript.

Compliance with Ethical Standards

Conflict of interest

Beatriz Oliveri, Diana González, and Paula Rozenfeld have received speaking honoraria from Shire; Felisa Quiroga and Claudio Silva declare no conflict of interest.

Human and Animal Rights and Informed Consent

This study was approved by the Ethical Committee of IBYME (Instituto de Biología y Medicina Experimental, Argentina). All patients or their guardians provided written informed consent to participate in this study.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Laboratorio de Osteoporosis y Enf. Metabólicas OseasINIGEM (UBA-CONICET) Clínicas JSMCiudad Autonoma de Buenos AiresArgentina
  2. 2.Mautalen Salud e InvestigaciónCiudad Autonoma de Buenos AiresArgentina
  3. 3.Diagnóstico MaipúBuenos AiresArgentina
  4. 4.IIFP, Universidad Nacional de La Plata, CONICETFacultad de Ciencias Exactas, Departamento de Ciencias BiologicasBuenos AiresArgentina

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