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Skeletal Radiology
Published in: Skeletal Radiology 12/2011

01-12-2011 | Review Article

Radiological aspects of Gaucher disease

Authors: Robert Katz, Tom Booth, Rikin Hargunani, Peter Wylie, Brian Holloway

Published in: Skeletal Radiology | Issue 12/2011

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Abstract

Advances in imaging and the development of commercially available enzyme therapy have significantly altered the traditional radiology of Gaucher disease. The cost of treatment and need for monitoring response to therapy have magnified the importance of imaging. There are no recent comprehensive reviews of the radiology of this relatively common lysosomal storage disease. This article describes the modern imaging, techniques and radiological manifestations of Gaucher disease.
Literature
1.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54.CrossRefPubMed
2.
Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. ii. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem Biophys Res Commun. 1965;18:221–5.CrossRefPubMed
3.
Brady RO. Gaucher’s disease: past, present and future. Baillières Clin Haematol. 1997;10:621–34.CrossRefPubMed
4.
Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Baillières Clin Haematol. 1997;10(4):657–89.CrossRefPubMed
5.
Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835–43.CrossRefPubMed
6.
Vom Dahl S, Poll L, Di Rocco M, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin. 2006;22(6):1045–64.CrossRef
7.
Charrow J. Enzyme replacement therapy for Gaucher disease. Expert Opin Biol Ther. 2009;9(1):121–31. Review.CrossRefPubMed
8.
Ficicioglu C. Review of miglustat for clinical management in Gaucher disease type 1. Ther Clin Risk Manage. 2008;4(2):425–31.CrossRef
9.
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372(9645):1263–71.CrossRefPubMed
10.
Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004;41(4 Suppl 5):15–22.CrossRefPubMed
11.
Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspects of Gaucher disease: a review. Br J Radiol. 2002;75 Suppl 1:A2–A12.CrossRefPubMed
12.
Pastores GM, Patel MJ, Firooznia H. Bone and joint complications related to Gaucher disease. Curr Rheumatol Rep. 2000;2(2):175–80.CrossRefPubMed
13.
Maas M, Poll LW, Terk MR. Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol. 2002;75 Suppl 1:A13–24.CrossRefPubMed
14.
Sims KB, Pastores GM, Weinreb NJ, et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008;73(5):430–40. Epub 2008 Feb 27.CrossRefPubMedPubMedCentral
15.
Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G. MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol. 1993;22(4):247–51.CrossRefPubMed
16.
Maas M, van Kuijk C, Stoker J, et al. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging—initial experience. Radiology. 2003;229(2):554–61. Epub 2003 Oct 2.CrossRefPubMed
17.
Yosipovitch Z, Katz K. Bone crisis in Gaucher disease–an update. Isr J Med Sci. 1990;26(10):593–5.PubMed
18.
Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet. 2007;71(3):205–11.CrossRefPubMed
19.
Poll LW, Maas M, Terk MR, et al. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol. 2002;75 Suppl 1:A25–36.CrossRefPubMed
20.
Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113(2):112–9.CrossRefPubMed
21.
Johnson LA, Hoppel BE, Gerard EL, et al. Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Radiology. 1992;182(2):451–5.CrossRefPubMed
22.
Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ. Quantification of skeletal involvement in adults with type I Gaucher’s disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol. 2002;179(4):961–5.CrossRefPubMed
23.
Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995;96(4 Pt 1):629–37.PubMed
24.
Hollak C, Maas M, Akkerman E, den Heeten A, Aerts H. Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Blood Cells Mol Dis. 2001;27(6):1005–12.CrossRefPubMed
25.
Rosenthal DI, Scott JA, Barranger J, et al. Evaluation of Gaucher disease using magnetic resonance imaging. J Bone Joint Surg Am. 1986;68(6):802–8.CrossRefPubMed
26.
Poll LW, Koch JA, vom Dahl S, et al. Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results. Skeletal Radiol. 2001;30(9):496–503.CrossRefPubMed
27.
Terk MR, Dardashti S, Liebman HA. Bone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Skeletal Radiol. 2000;29(10):563–71.CrossRefPubMed
28.
Vlieger EJ, Maas M, Akkerman EM, Hollak CE, Den Heeten GJ. Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. J Comput Assist Tomogr. 2002;26(5):843–8.CrossRefPubMed
29.
Robertson PL, Maas M, Goldblatt J. Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher’s disease using the bone marrow burden score. AJR Am J Roentgenol. 2007;188(6):1521–8.CrossRefPubMed
30.
DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-based bone marrow burden score with genotype and spleen status in Gaucher’s Disease. AJR Am J Roentgenol. 2008;191(1):115–23.CrossRefPubMedPubMedCentral
31.
McHugh K, Olsen EØE, Vellodi A. Gaucher disease in children: radiology of non-central nervous system manifestations. Clin Radiol. 2004;59(2):117–23.CrossRefPubMed
32.
Pastores GM, Wallenstein S, Desnick RJ, Luckey MM. Bone density in type 1 Gaucher disease. J Bone Miner Res. 1996;11(11):1801–7.CrossRefPubMed
33.
Mikosch P, Kohlfürst S, Gallowitsch HJ, et al. Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature. Nuklearmedizin. 2008;47(6):239–47. Review.CrossRefPubMed
34.
Hermann G, Goldblatt J, Levy RN, Goldsmith SJ, Desnick RJ, Grabowski GA. Gaucher’s disease type 1: assessment of bone involvement by CT and scintigraphy. AJR Am J Roentgenol. 1986;147(5):943–8.CrossRefPubMed
35.
Mariani G, Filocamo M, Giona F, et al. Severity of bone marrow involvement in patients with Gaucher’s disease evaluated by scintigraphy with 99mTc-sestamibi. J Nucl Med. 2003;44(8):1253–62.PubMed
36.
Mariani G, Molea N, La Civita L, Porciello G, Lazzeri E, Ferri C. Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher’s disease. Eur J Nucl Med. 1996;23(4):466–70.CrossRefPubMed
37.
Katz K, Mechlis-Frish S, Cohen IJ, Horev G, Zaizov R, Lubin E. Bone scans in the diagnosis of bone crisis in patients who have Gaucher disease. J Bone Joint Surg Am. 1991;73(4):513–7.CrossRefPubMed
38.
Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004;144(1):112–20.CrossRefPubMed
39.
Hill SC, Damaska BM, Ling A, et al. Gaucher disease: abdominal MR imaging findings in 46 patients. Radiology. 1992;184(2):561–6.CrossRefPubMed
40.
Poll LW, Koch JA, vom Dahl S, Sarbia M, Häussinger D, Mödder U. Gaucher disease of the spleen: CT and MR findings. Abdom Imaging. 2000;25(3):286–9.CrossRefPubMed
41.
Terk MR, Esplin J, Lee K, Magre G, Colletti PM. MR imaging of patients with type 1 Gaucher’s disease: relationship between bone and visceral changes. AJR Am J Roentgenol. 1995;165(3):599–604.CrossRefPubMed
42.
Patlas M, Hadas-Halpern I, Abrahamov A, Elstein D, Zimran A. Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease. Eur Radiol. 2002;12(2):397–400. Epub 2001 Sep 7.CrossRefPubMed
43.
Tunaci A, Berkmen YM, Gökmen E. Pulmonary Gaucher’s disease: high-resolution computed tomographic features. Pediatr Radiol. 1995;25(3):237–8.CrossRefPubMed
44.
Wolson AH. Pulmonary findings in Gaucher’s disease. Am J Roentgenol Radium Ther Nucl Med. 1975;123(4):712–5.CrossRefPubMed
45.
46.
de Fost M, Aerts JM, Hollak CE. Gaucher disease: from fundamental research to effective therapeutic interventions. Neth J Med. 2003;61(1):3–8.PubMed
Metadata
Title
Radiological aspects of Gaucher disease
Authors
Robert Katz
Tom Booth
Rikin Hargunani
Peter Wylie
Brian Holloway
Publication date
01-12-2011
Publisher
Springer Berlin Heidelberg
Published in
Skeletal Radiology / Issue 12/2011
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-010-0992-3

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