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

Calcified Tissue International
Beatriz OliveriPaula Rozenfeld

Abstract

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 ...Continue Reading

References

Jan 1, 1994·Human Mutation·M Horowitz, A Zimran
Sep 1, 1993·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·H K GenantM C Nevitt
Oct 20, 1999·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·L J MeltonB L Riggs
May 31, 2002·The British Journal of Radiology·R J WenstrupB Bembi
Mar 17, 2004·Trends in Pharmacological Sciences·Anthony H FutermanAri Zimran
May 17, 2005·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Pilar GiraldoUNKNOWN Spanish Group on Gaucher disease
May 30, 2006·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Tamara VokesUNKNOWN International Society for Clinical Densitometry
Jun 7, 2006·Archives of Pediatrics & Adolescent Medicine·Paige KaplanJohn D Yee
Apr 30, 2008·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Sanford BaimFrank Rauch
Apr 30, 2008·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Frank RauchPhilip Zeitler
Apr 30, 2008·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Sanford BaimStuart Silverman
Jul 29, 2009·Blood·Shelley E Crary, George R Buchanan
Oct 22, 2010·Proceedings of the National Academy of Sciences of the United States of America·Pramod K MistryMone Zaidi
Dec 25, 2010·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·S VasikaranUNKNOWN IOF-IFCC Bone Marker Standards Working Group
Jan 12, 2011·Wiener medizinische Wochenschrift·Peter Mikosch, Derralynn Hughes
May 6, 2011·The Journal of Clinical Endocrinology and Metabolism·L van DussenC E M Hollak
Sep 3, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Didier HansWilliam D Leslie
Jun 14, 2012·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Aneal KhanPramod K Mistry
Jan 29, 2013·Hematology Reports·Gaetano GiuffridaFrancesco Di Raimondo
Jan 21, 2014·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Barbara C SilvaJohn P Bilezikian
May 6, 2014·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Judith E AdamsUNKNOWN International Society of Clinical Densitometry
May 24, 2014·Endocrine·Fabio M UlivieriRenata Caudarella
Nov 8, 2014·Calcified Tissue International·Gemma MarcucciMaria Luisa Brandi
Jun 13, 2015·Journal of Immunology Research·Juan Marcos Mucci, Paula Rozenfeld
Nov 12, 2016·Blood Cells, Molecules & Diseases·Marcio Andrade-CamposUNKNOWN Spanish group on Gaucher Disease
Feb 22, 2017·International Journal of Molecular Sciences·Jérôme StirnemannMarc G Berger
Mar 7, 2017·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Sabina HerreraAdolfo Díez-Pérez
Jul 12, 2017·Blood Cells, Molecules & Diseases·M BaldiniM D Cappellini
Aug 7, 2019·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Kelly KrohnE Michael Lewiecki

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Citations

Aug 13, 2020·Molecular Genetics and Metabolism·P A RozenfeldM V Delpino

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Methods Mentioned

BETA
X-ray

Software Mentioned

TBS
Excel®
LUNAR Prodigy Advance
TBS iNsight
Medimaps Group SA

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