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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 3/2008

01-06-2008 | Review

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Authors: T. M. Cox, J. M. F. G. Aerts, N. Belmatoug, M. D. Cappellini, S. vom Dahl, J. Goldblatt, G. A. Grabowski, C. E. M. Hollak, P. Hwu, M. Maas, A. M. Martins, P. K. Mistry, G. M. Pastores, A. Tylki-Szymanska, J. Yee, N. Weinreb

Published in: Journal of Inherited Metabolic Disease | Issue 3/2008

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Summary

Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semi-quantitative methods for assessing bone marrow infiltration. In addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.
Literature
Aerts JM, Hollak CE (1997) Plasma and metabolic abnormalities in Gaucher’s disease. Baillieres Clin Haematol 10(4): 691–709.PubMedCrossRef
Aguilera B, Ghauharali-van der Vlugt K, Helmond MT, et al (2003) Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem 278(42): 40911–40916.PubMedCrossRef
Altarescu G, Schiffmann R, Parker CC, et al (2000) Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis 26(4): 285–290.PubMedCrossRef
Amato D, Stachiw T, Clarke JT, et al (2004) Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis 27(5): 659–669.PubMedCrossRef
Amory JK, Muller CH, Page ST, et al (2007) Miglustat has no apparent effect on spermatogenesis in normal men. Hum Reprod 22(3): 702–707.PubMedCrossRef
Andersson HC, Charrow J, Kaplan P, et al (2005) International Collaborative Gaucher Group U.S. Regional Coordinators. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med 7(2): 105–110.PubMedCrossRef
Aporta Rodriguez R, Escobar Vedia JL, Navarro Castro AM, et al (1998) Alglucerase enzyme replacement therapy used safely and effectively throughout the whole pregnancy of a Gaucher disease patient. Haematologica 83(9): 852–853.PubMed
Ashkenazi A, Zaizov R, Matoth Y (1986) Effect of splenectomy on destructive bone changes in children with chronic (Type I) Gaucher disease. Eur J Pediatr 145(1–2): 138–141.PubMedCrossRef
Ayhan A, Tuncer ZS, Simsek H (1996) Gaucher’s disease and pregnancy. Eur J Obstet Gynecol Reprod Biol 66(1): 69–70.PubMedCrossRef
Babyn PS, Ranson M, McCarville ME (1998) Normal bone marrow: signal characteristics and fatty conversion. Magn Reson Imaging Clin N Am 6(3): 473–495.PubMed
Bamias A, Kastritis E, Bamia C, et al (2005) Osteonecrosis of the jaw in cancer after treatment with bisphosphonates: incidence and risk factors. J Clin Oncol 23(34): 8580–8587.PubMedCrossRef
Barton NW, Brady RO, Dambrosia JM, et al (1991). Replacement therapy for inherited enzyme deficiency—macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med 324(21): 1464–1470.PubMed
Bembi B, Zanatta M, Carrozzi M, et al (1994) Enzyme replacement treatment in type 1 and type 3 Gaucher’s disease. Lancet 344(8938): 1679–1682.PubMedCrossRef
Bembi B, Ciana G, Mengel E, et al (2002) Bone complications in children with Gaucher disease. Br J Radiol 75(Supplement 1): A37–44.PubMed
Berridge MJ, Bootman MD, Lipp P (1998) Calcium—a life and death signal. Nature 395(6703): 645–648.PubMedCrossRef
Beutler E, Grabowski GA (2001). Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635–3668.
Beutler E, Gelbart T, Scott CR (2005) Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 35(3): 355–364.PubMedCrossRef
Boot RG, Verhoek M, de Fost M, et al (2004). Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 103(1): 33–39.PubMedCrossRef
Boot RG, Verhoek M, Langeveld M, et al (2006) CCL18: a urinary marker of Gaucher cell burden in Gaucher patients. J Inherit Metab Dis 29(4): 564–571.PubMedCrossRef
Boven LA, van Meurs M, Boot RG, et al (2004) Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 122(3): 359–369.PubMedCrossRef
Cabrera-Salazar MA, O’Rourke E, Henderson N, et al (2004) Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy. Clin Chim Acta 344(1–2): 101–107.PubMedCrossRef
Capablo JL, Saenz de Cabezon A, Fraile J, et al (2008) Neurological evaluation of Gaucher disease patients diagnosed as type 1. J Neurol Neurosurg Psychiatry 79(2): 219–222. (Epub 2007 Aug 6).PubMedCrossRef
Charrow J, Andersson HC, Kaplan P, et al (2000) The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 160(18): 2835–2843.PubMedCrossRef
Charrow J, Andersson HC, Kaplan P, et al (2004) Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 144(1): 112–120.PubMedCrossRef
Charrow J, Dulisse B, Grabowski GA, et al (2007) The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 71(3): 205–211.PubMedCrossRef
Chérin P, Sedel F, Mignot C, et al (2006) Neurological manifestations of type 1 Gaucher’s disease: Is a revision of disease classification needed? [in French]. Rev Neurol (Paris) 162(11): 1076–1083.
Ciana G, Cuttini M, Bembi B (1997) Short-term effects of pamidronate in patients with Gaucher’s disease and severe skeletal involvement. N Engl J Med 337(10): 712.PubMedCrossRef
Ciana G, Martini C, Leopaldi A, et al (2003) Bone marker alterations in patients with type 1 Gaucher disease. Calcif Tissue Int 72(3): 185–189.PubMedCrossRef
Ciana G, Addobbati R, Tamaro G, et al (2005) Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy. J Inherit Metab Dis 28: 723–732.PubMedCrossRef
Clarkson CP, Magann EF, Siddique SA, et al (1998) Hematological complications of Gaucher’s disease in pregnancy. Mil Med 163(7): 499–501.PubMed
Cleary JE, Burke WM, Baxi LV (2001) Pregnancy after avascular necrosis of the femur complicating Gaucher’s disease. Am J Obstet Gynecol 184(2): 233–234.PubMedCrossRef
Cox TM (2001) Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 24(Supplement 2): 106–121; discussion 87–88.PubMed
Cox TM, Schofield JP (1997) Gaucher’s disease: clinical features and natural history. Baillieres Clin Haematology 10(4): 657–689.CrossRef
Cox TM, Hollak C, et al (2000) Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355(9214): 1481–1485.PubMedCrossRef
Cox TM, Aerts JM, Andria G, et al (2003) Advisory Council to the European Working Group on Gaucher Disease. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 26(6): 513–526.PubMedCrossRef
Davies JM, Barnes R, Milligan D (2002) British Committee for Standards in Haematology. Working Party of the Haematology/Oncology Task Force. Update of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Clin Med 2(5): 440–443.PubMed
Deegan PB, Cox TM (2005) Clinical evaluation of biomarkers in Gaucher disease. Acta Paediatr Supplement 94(447): 47–50; discussion 37–38.CrossRef
Deegan PB, Moran MT, McFarlane I, et al (2005) Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 35: 259–267.PubMedCrossRef
de Fost M. Aerts JMFG, Hollak CEM (2003) Gaucher disease: from fundamental research to effective therapeutic interventions. Neth J Med 61(1): 3–8.PubMed
de Fost M, Hollak CE, Groener JE, et al (2006a) Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a2-center retrospective analysis. Blood 108(3): 830–835.PubMedCrossRef
de Fost M, Vom Dahl S, Weverling GJ, et al (2006b) Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 36(1): 53–58.PubMedCrossRef
Diamond LK (1969) Splenectomy in childhood and the hazard of overwhelming infection. Pediatrics 43(5): 886–889.PubMed
Dimitriou E, Verhoek M, Altun S, et al (2005) Elevated plasma chemokine CCL18/PARC in beta-thalassemia. Blood Cells Mol Dis 35(3): 328–331.PubMedCrossRef
Ein SH, Shandling B, Simpson JS, et al (1977) The morbidity and mortality of splenectomy in childhood. Ann Surg 185(3): 307–310.PubMedCrossRef
El-Beshlawy A, Ragab L, Youssry I, et al (2006) Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. J Inherit Metab Dis 29(1): 92–98.PubMedCrossRef
Elstein D, Granovsky-Grisaru S, Rabinowitz R, et al (1997) Use of enzyme replacement therapy for Gaucher disease during pregnancy. Am J Obstet Gynecol 177(6): 1509–1512.PubMedCrossRef
Elstein D, Klutstein MW, Lahad A, et al (1998) Echocardiographic assessment of pulmonary hypertension in Gaucher’s disease. Lancet 351(9115): 1544–6.PubMedCrossRef
Elstein D, Hollak C, Aerts JM, et al (2004) Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 27(6): 757–766.CrossRef
Elstein Y, Eisenberg V, Granovsky-Grisaru S, et al (2004) Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol 190(2): 435–441.CrossRef
Esplin J, Greenspoon JS, Cheng E, et al (1993) Alglucerase infusions in pregnant type 1 Gaucher patients [Abstract]. Blood 82: 509A.
Finkelstein R, Nachum Z, Reissman P, et al (1992) Anaerobic osteomyelitis in patients with Gaucher’s disease. Clin Infect Dis 15(5): 771–773.PubMed
Fiore CE, Barone R, Pennisi P, et al (2002) Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease. J Bone Miner Metab 20(1): 34–38PubMedCrossRef
Fleshner PR, Aufses AH Jr, Grabowski GA, et al (1991) A 27-year experience with splenectomy for Gaucher’s disease. Am J Surg 161(1): 69–75.PubMedCrossRef
Futerman AH (2006). Cellular pathology in Gaucher disease. In Futerman AH and Zimran A, eds. Gaucher Disease. Boca Raton, FL: CRC/Taylor and Francis, 97–108.
Futerman AH, van Meer G (2004) The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 5(7): 554–565.PubMedCrossRef
Goldblatt J, Beighton P (1985) Obstetric aspects of Gaucher disease. Br J Obstet Gynaecol 92(2): 145–149.PubMed
Goldblatt J, Sacks S, Beighton P (1978) The orthopedic aspects of Gaucher disease. Clin Orthop Relat Res (137): 208–214.
Grabowski GA (1997) Gaucher disease: gene frequencies and genotype/phenotype correlations. Genet Test 1(1): 5–12.PubMed
Grabowski GA, Kolodny EH, Weinreb NJ, et al (2006) Gaucher disease: phenotype and genetic variation. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, accessed via www.​ommbid.​com.
Grace ME, Balwani M, Nazarenko I, et al (2007) Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat 28(9): 866–873.PubMedCrossRef
Granovsky-Grisaru S, Aboulafia Y, Diamant YZ, et al (1995) Gynecologic and obstetric aspects of Gaucher’s disease: a survey of 53 patients. Am J Obstet Gynecol 172(4 Pt 1): 1284–1290.PubMedCrossRef
Guffon N (2006) Gaucher disease and chitotriosidase [in French]. Rev Med Interne 27(Supplement 1): S26–29.PubMed
Hall MB, Brown RW, Baughman RA (1985). Gaucher’s diseaseaffecting the mandible. J Oral Maxillofac Surg 43(3): 210–213.PubMedCrossRef
Hermann G, Goldblatt J, Levy RN, et al (1986) Gaucher’s disease type 1: assessment of bone involvement by CT and scintigraphy. AJR Am J Roentgenol 147(5): 943–948.PubMed
Hoeper MM, Niedermeyer J, Hoffmeyer F, et al (1999) Pulmonary hypertension after splenectomy? Ann Intern Med 130(6): 506–509.PubMed
Hollak CE, van Weely S, van Oers MH, et al (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93(3): 1288–1292.PubMedCrossRef
Hollak CE, Aerts JM, Goudsmit R, et al (1995) Individualised low-dose alglucerase therapy for type 1 Gaucher’s disease. Lancet 345(8963): 1474–1478.PubMedCrossRef
Hollak CE, Levi M, Berends F, et al (1997) Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. Br J Haematol 96(3): 470–476.PubMedCrossRef
Hollak CE, Maas M, Akkerman E, et al (2001) 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 27(6): 1005–1012.PubMedCrossRef
Holtkamp W, Kuhn W, Kunze E, et al (1998) Gaucher disease and pregnancy [in German]. Z Geburtshilfe Perinatol 192(6): 278–281.
Hruska KS, Goker-Alpan O, Sidransky E (2006) Gaucher disease and the synucleinopathies. J Biomed Biotechnol (3): 78549.
Hughes D, Cappellini MD, Berger M et al (2007) Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 138(6): 676–686.PubMedCrossRef
Ida H, Rennert OM, Kato S, et al (1999) Severe skeletal complications in Japanese patients with type 1 Gaucher disease. J Inherit Metab Dis 22(1): 63–73.PubMedCrossRef
Ioscovich A, Elstein Y, Halpern S, et al (2004) Anesthesia for obstetric patients with Gaucher disease: survey and review. Int J Obstet Anesth 13(4): 244–250.PubMedCrossRef
Jimenez Saenz M, Romero Castro R, Carrasco Diaz F, et al (1991) Gaucher’s disease type I, anticoagulant factor and pregnancy [in Spanish]. An Med Interna 8(6): 294–295.PubMed
Johnson LA, Hoppel BE, Gerard EL, et al (1992). Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Radiology 182(2): 451–455.PubMed
Junod AF, Carrel JP, Richter M, et al (2005) Osteonecrosis of the jaws and bisphosphonates [in French]. Rev Med Suisse 1(39): 2537–2540, 2542–2543.PubMed
Kaloterakis A, Filiotou A, Koskinas J, et al (1999) Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature. J Intern Med 246(6): 587–590.PubMedCrossRef
Kaplan P, Andersson HC, Kacena KA, Yee JD (2006) The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006 160(6): 603–608.CrossRef
Kelsey H, Christopoulos C, Gray AA, et al (1994) Acquired pseudo-pseudo Bernard–Soulier syndrome complicating Gaucher’s disease. J Clin Pathol 47(2): 162–165.PubMedCrossRef
Kinoshita H, Tamaki T, Hashimoto T, et al (1998) Factors influencing lumbar spine bone mineral density assessment by dual-energy X-ray absorptiometry: comparison with lumbar spinal radiogram. J Orthop Sci 3(1): 3–9.PubMedCrossRef
Kolodny EH, Ullman MD, Mankin HJ, et al (1982) Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Prog Clin Biol Res 95: 33–65.PubMed
Koprivica V, Stone DL, Park JK, et al (2000) Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 66(6): 1777–1786.PubMedCrossRef
Kortotian E, Schwarz A, Pelled D, et al (1999) Elevation of intracellular glucosylceramide levels results in increse in endoplasmic reticulum density and in functional calcium stores in cultured neurones. J Biol Chem 274: 21673–21678.CrossRef
Krasnewich D, Dietrich K, Bauer L, et al (1998) Splenectomy in Gaucher disease: new management dilemmas. Blood 91(8): 3085–3087.PubMed
Kyaw MH, Holmes EM, Toolis F, et al (2006) Evaluation of severe infection and survival after splenectomy. Am J Med 119(3): 276.e1–7.CrossRef
Kyllerman M, Conradi N, Mansson JE, et al (1990) Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy. Acta Paediatr Scand 79(4): 448–453.PubMedCrossRef
Lachmann RH, Wight DG, Lomas DJ, et al (2000) Massive hepatic fibrosis in Gaucher’s disease: clinico-pathological and radiological features. QJM 93(4): 237–244.PubMedCrossRef
Lachmann RH, Grant IR, Halsall D, et al (2004) Twin pairs showing discordance of phenotype in adult Gaucher’s disease. QJM 97(4): 199–204.PubMedCrossRef
Laine F, Guyader D, Turlin B, et al (1996) Hyper-ferritinemia and Gaucher disease [in French]. Gastroenterol Clin Biol 20(5): 512–513.PubMed
Landyshev IuS, Tochilin VI (1989) Gaucher’s disease and pregnancy [in Russian]. Ter Arkh 61(10): 81–3.PubMed
Lebel E, Dweck A, Foldes AJ, et al (2004) Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab 22(6): 597–601.PubMedCrossRef
Lee RE (1982) The pathology of Gaucher disease. In: Desnick RJ, Gatt S, Grabowski GA, eds. Gaucher Disease: A Century of Delineation and Research, New York: Liss, 177–217.
Lester TJ, Grabowski GA, Goldblatt J, et al (1984) Immune thrombocytopenia and Gaucher’s disease. Am J Med 77(3): 569–571.PubMedCrossRef
Liu G, Peacock M, Eilam O, et al (1997) Effect of osteoarthritis in the lumbar spine and hip on bone mineral density and diagnosis of osteoporosis in elderly men and women.Osteoporos Int 7(6): 564–569.PubMedCrossRef
Maas M, Hollak CE, Akkerman EM, et al (2002) 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 179(4): 961–965.PubMed
Maas M, van Kuijk C, Stoker J, et al (2003) 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 229(2): 554–561.PubMedCrossRef
Maas M, Hangartner T, Mariani G, et al (2008) Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol 37(3): 185–188.PubMedCrossRef
Maaswinkel-Mooij P, Hollak C, van Eysden-Plaisier M, et al (2000). The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations. J Inherit Metab Dis 23(1): 77–82.PubMedCrossRef
Magal I, Lebel E, Altarescu G, et al (2006) Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease. Br J Haematol 133(1): 93–97.PubMed
Margalit M, Ash N, Zimran A, et al (2002) Enzyme replacement therapy in the management of longstanding skeletal and soft tissue salmonella infection in a patient with Gaucher’s disease. Postgrad Med J 78(923): 564–565.PubMedCrossRef
Mariani G, Filocamo M, Giona F, et al (2003) Severity of bone marrow involvement in patients with Gaucher’s disease evaluated by scintigraphy with99mTc-Sestamibi. J Nucl Med 44(8): 1253–1262.PubMed
Marini JC (2003) Do bisphosphonates make children’s bones better or brittle? N Engl J Med 349(5): 423–426.PubMedCrossRef
Marx RE, Sawatari Y, Fortin M, et al (2005) Bisphosphonate-induced exposed bone (osteonecrosis/osteopetrosis) of the jaws: risk factors, recognition, prevention, and treatment. J Oral Maxillofac Surg 63(11): 1567–1575.PubMedCrossRef
Mazor M, Wiznitzer A, Pinku A, et al (1986) Gaucher’s disease in pregnancy associated with portal hypertension. Am J Obstet Gynecol 154(5): 1119–1120.PubMed
McClung MR (2006). Do current management strategies and guidelines adequately address fracture risk? Bone 38(2 Supplement 2): 13–17.CrossRef
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281(3): 249–254.PubMedCrossRef
Miller SP, Zirzow GC, Doppelt SH, et al (1996) Analysis of the lipids of normal and Gaucher bone marrow. J Lab Clin Med 127(4): 353–358.PubMedCrossRef
Mistry PK, Wraight EP, Cox TM (1996) Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher’s disease. Lancet 348(9041): 1555–1559.PubMedCrossRef
Mistry PK, Sirrs S, Chan A, et al (2002) Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab 77(1–2): 91–98.PubMedCrossRef
Moran MT, Schofield JP, Hayman AR et al (2000). Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 96(5): 1969–1978.PubMed
Najm SA, Lysitsa S, Carrel JP, et al (2005) Bisphosphonates-related jaw osteonecrosis [in French]. Presse Med 34(15): 1073–1077.PubMedCrossRef
Ostlere SJ, Gold RH (1991) Osteoporosis and bone density measurement methods. Clin Orthop Relat Res: (271): 149–163.
Pastores GM, Wallenstein S, Desnick RJ, et al (1996) Bone density in type 1 Gaucher disease. J Bone Miner Res 11(11): 1801–1807.PubMedCrossRef
Pastores GM, Weinreb NJ, Aerts H, et al (2004) Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41(4 Supplement 5): 4–14.PubMedCrossRef
Pastores GM, Barnett NL, Kolodny EH (2005) An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther 27(8): 1215–1227.PubMedCrossRef
Patlas M, Hadas-Halpern I, Abrahamov A, et al (2002) Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years. Hematol J 3(1): 17–20.PubMedCrossRef
Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, et al (2005). Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 18(1): 83–88.PubMedCrossRef
Pinto R, Caseiro C, Lemos M, et al (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12(2): 87–92.PubMedCrossRef
Poll LW, Koch JA, vom Dahl S, et al (2001) Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results. Skeletal Radiol 30(9): 496–503.PubMedCrossRef
Poorthuis BJ, Wevers RA, Kleijer WJ, et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105(1–2): 151–156.PubMed
Price VE, Dutta S, Blanchette VS, et al (2006) The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto. Pediatr Blood Cancer 46(5): 597–603.PubMedCrossRef
Pye SR, Reid DM, Lunt M, et al (2007) Lumbar disc degeneration: association between osteophytes, end-plate sclerosis and disc space narrowing. Ann Rheum Dis 66(3): 330–333.PubMedCrossRef
Robertson PL, Maas M, Goldblatt J (2007). Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher’s disease using the bone marrow burden score. AJR Am J Roentgenol 188(6): 1521–1528.PubMedCrossRef
Rodrigue SW, Rosenthal DI, Barton NW, et al (1999) Risk factors for osteonecrosis in patients with type 1 Gaucher’s disease. Clin Orthop Relat Res (362): 201–207.
Rose JS, Grabowski GA, Barnett SH, et al (1982) Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AJR Am J Roentgenol 139(6): 1202–1204.PubMed
Rosenbloom BE, Weinreb NJ, Zimran A, et al (2005) Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 105(12): 4569–4572.PubMedCrossRef
Rosenthal DI, Doppelt SH, Mankin HJ, et al (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629–637.PubMed
Rudzki Z, Okon K, Machaczka M, et al (2003) Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease—a histological study. Eur J Haematol 70(5): 273–281.PubMedCrossRef
Ruggiero SL, Mehrotra B, Rosenberg TJ, et al (2004) Osteonecrosis of the jaws associated with the use of bisphosphonates: a review of 63 cases. J Oral Maxillofac Surg 62(5): 527–534.PubMedCrossRef
Salky B, Kreel I, Gelernt I, et al (1979) Splenectomy for Gaucher’s disease. Ann Surg 190(5): 592–594.PubMedCrossRef
Schiffmann R, Mankin H, Dambrosia JM, et al (2002) Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis 28(2): 288–296.PubMedCrossRef
Schueler UH, Kolter T, Kaneski CR, et al (2003) Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis 14(3): 595–601.PubMedCrossRef
Sherer Y, Dulitzki M, Levy Y, et al (2002) Successful pregnancy outcome in a patient with Gaucher’s disease and antiphospholipid syndrome. Ann Hematol 81(3): 161–163.PubMedCrossRef
Shiloni E, Bitran D, Rachmilewitz E, et al (1983) The role of splenectomy in Gaucher disease. Arch Surg 118(8): 929–932.PubMed
Shiran A, Brenner B, Laor A, et al (1993) Increased risk of cancer in patients with Gaucher disease. Cancer 72(1): 219–224.PubMedCrossRef
Sly WS, Kaplan A, Achord DT, et al (1978) Receptor-mediated uptake of lysosomal enzymes. Prog Clin Biol Res 23: 547–551.PubMed
Suganuma R, Walden CM, Butters TD, et al (2005) Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities. Biol Reprod 72(4): 805–813.PubMedCrossRef
Tordjeman N, Monnier JC, Hautefeuille P, et al (1991) Gaucher’s disease and pregnancy [in French]. J Gynecol Obstet Biol Reprod (Paris) 20(6): 835–840.
Torloni MR, Franco K, Sass N (2002) Gaucher’s disease with myocardial involvement in pregnancy. Sao Paulo Med J 120(3): 90–92.PubMedCrossRef
van Breemen MJ, de Fost M, Voerman JS, et al (2007) Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. Biochim Biophys Acta 1772(7): 788–796.PubMed
van der Spoel AC, Jeyakumar M, Butters TD, et al (2002) Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception. Proc Natl Acad Sci U S A 99(26): 17173–17178.PubMedCrossRef
Van Poznak C (2006) The phenomenon of osteonecrosis of the jaw in patients with metastatic breast cancer. Cancer Invest 24(1): 110–112.PubMedCrossRef
Vellodi A, Foo Y, Cole TJ (2005) Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis 28(4): 585–592.PubMedCrossRef
vom Dahl S, Poll L, Di Rocco M, et al (2006) Evidence based recommendations for monitoring bone disease and the response to therapy in Gaucher patients. Curr Med Res Opin 22(6): 1045–1064.CrossRef
Weinreb NJ, Charrow J, Andersson HC, et al (2002). 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 113(2): 112–119.PubMedCrossRef
Weinreb NJ, Aggio MC, Andersson HC, et al (2004) International Collaborative Gaucher Group (ICGG). Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 41(4 Supplement 5): 15–22. Erratum in: Semin Hematol 2000 42(3): 179.PubMedCrossRef
Weinreb NJ, Barranger JA, Charrow J, et al (2005) Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol 80(3): 223–229.PubMedCrossRef
Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al (2002) Skeletal aspects of Gaucher disease: a review. Br J Radiol 75(Supplement 1): A2–12.PubMed
Wenstrup RJ, Bailey L, Grabowski GA, et al (2004) Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 104(5): 1253–1257.PubMedCrossRef
Wenstrup RJ, Kacena KA, Kaplan P, et al (2007) Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 22(1): 119–126.PubMedCrossRef
Young E, Chatterton C, Vellodi A, et al (1997) Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. J Inherit Metab Dis 20: 595–692.PubMedCrossRef
Young KR, Payne MJ (1986) Reversible splenic enlargement associated with pregnancy in a patient with Gaucher’s disease. J R Army Med Corps 132(3): 157–158.PubMed
Zarychanski R, Elphee E, Walton P, et al (2006) Osteonecrosis of the jaw associated with pamidronate therapy. Am J Hematol 81(1): 73–75.PubMedCrossRef
Zimran A, Kay A, Gelbart T, et al (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 71(6): 337–353.CrossRef
Zimran A, Liphshitz I, Barchana M, et al (2005) Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis 34(3): 197–200.PubMedCrossRef
Zlotogora J, Sagi M, Zeigler M, et al (1989) Gaucher disease type I and pregnancy. Am J Med Genet 32(4): 475–477.PubMedCrossRef
Metadata
Title
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Authors
T. M. Cox
J. M. F. G. Aerts
N. Belmatoug
M. D. Cappellini
S. vom Dahl
J. Goldblatt
G. A. Grabowski
C. E. M. Hollak
P. Hwu
M. Maas
A. M. Martins
P. K. Mistry
G. M. Pastores
A. Tylki-Szymanska
J. Yee
N. Weinreb
Publication date
01-06-2008
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 3/2008
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-008-0779-z

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