Literature DB >> 25875285

Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?

Benjamin Fedida1, Sébastien Touraine, Jerôme Stirnemann, Nadia Belmatoug, Jean-Denis Laredo, David Petrover.   

Abstract

PURPOSE: To study the long-term evolution of the bone marrow burden (BMB) score at MRI in patients with Gaucher disease (GD) under enzyme replacement therapy (ERT).
MATERIAL AND METHODS: Forty patients treated for GD were retrospectively studied in a referral centre. BMB scores were assessed on spine and femur MR examinations performed between January 2003 and June 2014. The long-term evolution of the BMB scores was analyzed using a linear mixed model.
RESULTS: A total of 121 MRI examinations were performed during the study period with a mean follow-up of 7.1 years ± 5.6, an average rate of 3.1 MR examinations ± 1.7 per patient and an interval of 2.3 years ± 1.1 between examinations. Patients had received ERT during 12 years on average ± 6.7. The trend of BMB scores with time decreased significantly by 15% (P = 0.008) during the total study period and 39% (P = 0.01) during the first 5 years of treatment. No changes in BMB scores were observed after five years of treatment.
CONCLUSION: In Gaucher patients, the trend of MRI BMB scores with time decreased significantly under ERT the first 5 years of treatment before a long-term stabilization. KEY POINTS: • Bone marrow infiltration of Gaucher patients responds to enzyme replacement therapy • MRI BMB score decreases mainly during the first five years of treatment • MRI BMB score tends to stabilize after five years of treatment • MR examinations could be limited after five years of treatment.

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Year:  2015        PMID: 25875285     DOI: 10.1007/s00330-015-3715-2

Source DB:  PubMed          Journal:  Eur Radiol        ISSN: 0938-7994            Impact factor:   5.315


  34 in total

1.  Quality of life assessment in adults with type 1 Gaucher disease.

Authors:  B J Masek; K B Sims; C M Bove; M S Korson; P Short; D K Norman
Journal:  Qual Life Res       Date:  1999-05       Impact factor: 4.147

2.  Prevalence of type 1 Gaucher disease in the United States.

Authors:  Neal J Weinreb; Hans C Andersson; Maryam Banikazemi; John Barranger; Ernest Beutler; Joel Charrow; Gregory A Grabowski; Carla E M Hollak; Paige Kaplan; Henry Mankin; Pramod K Mistry; Barry E Rosenbloom; Stephan Vom Dahl; Ari Zimran
Journal:  Arch Intern Med       Date:  2008-02-11

3.  Bone marrow relaxation times in Gaucher disease before and after enzyme replacement therapy.

Authors:  S Magnaldi; R Longo; M Ukmar; M Zanatta; M Bottega; G L Sottocasa
Journal:  Eur Radiol       Date:  1997       Impact factor: 5.315

4.  Gaucher disease: assessment with MR imaging.

Authors:  A Lanir; H Hadar; I Cohen; Y Tal; J Benmair; R Schreiber; M E Clouse
Journal:  Radiology       Date:  1986-10       Impact factor: 11.105

5.  Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.

Authors:  R O Brady; J N Kanfer; R M Bradley; D Shapiro
Journal:  J Clin Invest       Date:  1966-07       Impact factor: 14.808

6.  Pseudo-osteomyelitic crisis upon presentation of Gaucher disease.

Authors:  J S Weisstein; L S Steinbach; C A Diamond; S J Huang; R J O'Donnell
Journal:  Skeletal Radiol       Date:  2001-07       Impact factor: 2.199

7.  Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.

Authors:  N W Barton; R O Brady; J M Dambrosia; A M Di Bisceglie; S H Doppelt; S C Hill; H J Mankin; G J Murray; R I Parker; C E Argoff
Journal:  N Engl J Med       Date:  1991-05-23       Impact factor: 91.245

8.  Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results.

Authors:  L W Poll; J A Koch; S vom Dahl; R Willers; A Scherer; D Boerner; C Niederau; D Häussinger; U Mödder
Journal:  Skeletal Radiol       Date:  2001-09       Impact factor: 2.199

9.  Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-year follow-up.

Authors:  Deborah Elstein; Andrew H Haims; David Zahrieh; Gabriel M Cohn; Ari Zimran
Journal:  Blood Cells Mol Dis       Date:  2014-02-25       Impact factor: 3.039

10.  Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease.

Authors:  L A Johnson; B E Hoppel; E L Gerard; S P Miller; S H Doppelt; G C Zirzow; D I Rosenthal; J M Dambrosia; S C Hill; R O Brady
Journal:  Radiology       Date:  1992-02       Impact factor: 11.105

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  5 in total

1.  Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life.

Authors:  Ricardo Andrade Fernandes de Mello; Melissa Bosi Nonato Mello; Laís Bastos Pessanha; Ana Paula Alves Fonseca
Journal:  Radiol Bras       Date:  2021 Mar-Apr

Review 2.  A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Authors:  Jérôme Stirnemann; Nadia Belmatoug; Fabrice Camou; Christine Serratrice; Roseline Froissart; Catherine Caillaud; Thierry Levade; Leonardo Astudillo; Jacques Serratrice; Anaïs Brassier; Christian Rose; Thierry Billette de Villemeur; Marc G Berger
Journal:  Int J Mol Sci       Date:  2017-02-17       Impact factor: 5.923

Review 3.  Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.

Authors:  Andrew J Degnan; Victor M Ho-Fung; Rebecca C Ahrens-Nicklas; Christian A Barrera; Suraj D Serai; Dah-Jyuu Wang; Can Ficicioglu
Journal:  Insights Imaging       Date:  2019-07-10

Review 4.  Gaucher Disease in Bone: From Pathophysiology to Practice.

Authors:  Derralynn Hughes; Peter Mikosch; Nadia Belmatoug; Francesca Carubbi; TimothyM Cox; Ozlem Goker-Alpan; Andreas Kindmark; PramodK Mistry; Ludger Poll; Neal Weinreb; Patrick Deegan
Journal:  J Bone Miner Res       Date:  2019-06-24       Impact factor: 6.741

5.  Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.

Authors:  Livia d'Avila Paskulin; Rodrigo Tzovenos Starosta; Vitória Schütt Zizemer; Suélen Basgalupp; Débora Bertholdo; Filippo Pinto E Vairo; Marina Siebert; Kristiane Michelin-Tirelli; Ida Vanessa Doederlein Schwartz
Journal:  Mol Genet Metab Rep       Date:  2019-11-22
  5 in total

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