Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
- 829 Downloads
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.
KeywordsBone Mineral Density Enzyme Replacement Therapy Gauche Disease Bone Marrow Infiltration Miglustat
The Second International Gaucher Disease Management Board is an independent body supported by an educational grant by Genzyme Corporation, Cambridge, MA. This publication was supported by an unrestricted educational grant from Genzyme Corporation, Cambridge, MA. Editorial support was provided by Conscience Creative LLP, Leatherhead, UK. The opinions or views expressed in this paper are those of the authors and do not necessarily reflect the opinions or recommendations of Genzyme Corporation.
- 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.Google Scholar
- 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.Google Scholar
- 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.PubMedCrossRefGoogle Scholar
- 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.PubMedGoogle Scholar
- EMEA (European Agency for the Evaluation of Medicinal Products) (2002). Zavesca prescribing data. http://www.emea.europa.eu/humandocs/PDFs/EPAR/zavesca/H-435-PI-en.pdf. (Accessed 07/09/07).
- EMEA (European Agency for the Evaluation of Medicinal Products). (2005) Cerezyme prescribing data. http://www.emea.europa.eu/humandocs/PDFs/EPAR/Cerezyme/H-157-PI-en.pdf (Accessed 07/09/07).
- Esplin J, Greenspoon JS, Cheng E, et al (1993) Alglucerase infusions in pregnant type 1 Gaucher patients [Abstract]. Blood 82: 509A.Google Scholar
- FDA (Food and Drug Administration) (2002) Cerezyme prescribing data. http://www.fda.gov/cder/foi/label/2002/20367slr055_Cerezyme_lbl.pdf (Accessed 07/09/07).
- FDA (Food and Drug Adminstration) (2003): Zavesca prescribing data. http://www.fda.gov/cder/foi/label/2003/21348_zavesca_lbl.pdf (Accessed 07/09/07).
- 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.Google Scholar
- Goldblatt J, Sacks S, Beighton P (1978) The orthopedic aspects of Gaucher disease. Clin Orthop Relat Res (137): 208–214.Google Scholar
- 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.
- 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.PubMedCrossRefGoogle Scholar
- Holtkamp W, Kuhn W, Kunze E, et al (1998) Gaucher disease and pregnancy [in German]. Z Geburtshilfe Perinatol 192(6): 278–281.Google Scholar
- Hruska KS, Goker-Alpan O, Sidransky E (2006) Gaucher disease and the synucleinopathies. J Biomed Biotechnol (3): 78549.Google Scholar
- 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.Google Scholar
- Ostlere SJ, Gold RH (1991) Osteoporosis and bone density measurement methods. Clin Orthop Relat Res: (271): 149–163.Google Scholar
- 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.Google Scholar
- 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.PubMedCrossRefGoogle Scholar
- 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.Google Scholar
- 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.PubMedCrossRefGoogle Scholar