Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - A histological study

European Journal of Haematology

Volumn 70, Issue 5, 2003, Pages 273-281

  Rudzki, Zbigniew ^a   Okoń, Krzysztof ^a   Machaczka, Maciej ^a   Rucińska, Małgorzata ^a   Papla, Bolesław ^a   Skotnicki, Aleksander B ^a  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

Enzyme replacement therapy; Gaucher disease; Imiglucerase; Osteopenia; Trabecular bone; Trephine bone marrow biopsy

Indexed keywords

IMIGLUCERASE;

ABDOMINAL PAIN; ADIPOSE TISSUE; ADULT; ANEMIA; ARTICLE; BLOOD CHEMISTRY; BONE MARROW; BONE MARROW BIOPSY; BONE MARROW EXAMINATION; BONE PAIN; CELL LOSS; CELL REGENERATION; CELL SIZE; CELL VOLUME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME REPLACEMENT; FEMALE; FRACTURE; GAUCHER DISEASE; GENOTYPE; HEMATOPOIESIS; HEMATOPOIETIC CELL; HEMOGLOBIN DETERMINATION; HISTOLOGY; HUMAN; MALE; OSTEOLYSIS; OSTEOPENIA; PALLIDOTOMY; PARKINSON DISEASE; PLATE COUNT; PRIORITY JOURNAL; SPLENECTOMY; SPLENOMEGALY; STRABISMUS; THROMBOCYTOPENIA; THROMBOCYTOPENIC PURPURA; TRABECULAR BONE; ULTRASOUND;

ADULT; BONE DENSITY; BONE DISEASES, METABOLIC; BONE MARROW; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEMATOPOIESIS; HUMANS; MALE; MIDDLE AGED; RECOMBINANT PROTEINS;

EID: 0038556906     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0609.2003.00047.x     Document Type: Article

References (33)

1. BRADY RO, KANFER JN, BRADLEY RM, SHAPIRO D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 1966;45:1112-1115.
2. STOWENS DW, TEITELBAUM SL, KAHN AJ, BARRANGER JA. Skeletal complications of Gaucher disease. Medicine (Baltimore) 1985;64:310-322.
3. MANKIN HJ, ROSENTHAL DI, XAVIER R. Gaucher disease. New approaches to an ancient disease. J Bone Joint Surg Am 2001;83:A(5)748-762.
4. PASTORES GM, WALLENSTEIN S, DESNICK RJ, LUCKEY MM. Bone density in Type 1 Gaucher disease. J Bone Miner Res 1996;11:1801-1807.
5. FIORE CE, BARONE R, PENNISI P, PAVONE V, RICCOBENE S. Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease. J Bone Mine Metab 2002;20:34-38.
6. BARTON NW, BRADY RO, DAMBROSIA JM, et al. Replacement therapy for inherited enzyme defficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991;324:1464-1470.
7. GRABOWSKI GA, BARTON NW, PASTORES G, et al. Enzyme therapy in type I Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995;122:33-39.
8. MACKENZIE JJ, AMATO D, CLARKE JT. Enzyme replacement therapy for Gaucher's disease: the early Canadian experience. CMAJ 1998;159:1273-1278.
9. BEUTLER E. Economic malpractice in the treatment of Gaucher's disease. Am J Med 1994;97:1-2.
10. PAPLA B, MACHACZKA M, SKOTNICKI AB. Is it possible to identify siblings by studying bone marrow under a microscope? Two unusual cases of Gaucher disease. Pol J Pathol 2002;53:87-90.
11. MACHACZKA M, RUCINSKA M, SKOTNICKI AB, JURCZAK W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999;61:216-217.
12. GUDNESEN HJG, BAGGER P, BENDTSEN TF, et al. The new stereological tools: dissector, fractionator, nucleator and point sampled intercepts and their use in pathological research and diagnosis. APMIS 1988;96:857-881.
13. HOWARD CV, REED MG: Unbiased stereology. Three-dimensional Measurements in Microscopy, 1st edn. Oxford: Bios Scientific Publishers, 1998.
14. ROYET J-P: Stereology: a method for analyzing images. Prog Neurobiol 1991;37:443-474.
15. BEUTLER E, SAVEN A. Misuse of marrow examination in the diagnosis of Gaucher disease. Blood 1990;76:646-648.
16. SHIRAN A, BRENNER B, LAOR A, TATARSKY I. Increased risk of cancer in patients with Gaucher disease. Cancer 1993;72:219-224.
17. COHEN IJ, KATZ K, KORNREICH L, HOREV G, FRISH A, ZAIZOV R. Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Blood Cells Mol Dis 1998;24:296-302.
18. ASHKENAZI A, ZAIZOV R, MATOTH Y. Effect of splenectomy on destructive bone changes in children with chronic (Type I) Gaucher disease. Eur J Pediatr 1986;145:138-141.
19. ROSE JS, GRABOWSKI GA, BARNETT SH, DESNICK RJ. Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. Am J Roentgenol 1982;139:1202-1204.
20. PARKIN IJ, BRUNNING RD. Pathology of the Gaucher cell. Prog Clin Biol Res 1982;95:151-175.
21. FRISCH B, BARTL R. Biopsy Interpretation of Bone and Bone Marrow: Histology and Immunohistology in Paraffin and Plastic, 2nd edn. London: Arnold Publishers, 1999.
22. SCHIFFMANN R, MANKIN H, DAMBROSIA JM, XAVIER RJ, KREPS C, HILL SC, BARTON NW, ROSENTHAL DI. Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis 2002;28:288-296.
23. BOVE KE, DAUGHERTY C, GRABOWSKI GA. Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 1995;26:1040-1045.
24. ELSTEIN D, HADAS-HALPERN I, ITZCHAKI M, LAHAD A, ABRAHAMOV A, ZIMRAN A. Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells Mol Dis 1996;22:104-111.
25. ROSENTHAL DI, DOPPELT SH, MANKIN HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 1995;96:629-637.
26. MIGITA M, FUKUNAGA Y, UEDA T, WATANABE A, MORITA T, YAMAMOTO M. Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy. J Nippon Med Sch 1994;61:633-637.
27. SIDRANSKY E, GINNS EI, WESTMAN JA, EHMANN WC. Pathologic fractures may develop in Gaucher patients receiving enzyme replacement therapy. Am J Hematol 1994;47:247-249.
28. Anonymous. Diagnostic and therapeutic technology assessment. Measurement of bone density with dual-energy X-ray absorptiometry (DEXA). JAMA 1992;267:286-288.
29. MIRSKY EC, EINHORN TA. Bone densitometry in orthopaedic practice. J Bone Joint Surg Am 1998;80:1687-1698.
30. DRUGAN C, JEBELEANU G, GRIGORESCU-SIDO P, CAILLAUD C, CRACIUN AM. Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease. Blood Cells Mol Dis 2002;28:13-20.
31. BALICKI D, BEUTLER E. Gaucher disease. Medicine (Baltimore) 1995;74:305-323.
32. SAMUEL R, KATZ K, PAPAPOULOS SE, YOSIPOVITCH Z, ZAIZOV R, LIBERMAN UA. Aminohydroxy propylidene bisphosphonate (APD) treatment improves the clinical skeletal manifestations of Gaucher's disease. Pediatrics 1994;94:385-389.
33. CIANA G, CUTTINI M, BEMBI B. Short-term effects of pamidronate in patients with Gaucher's disease and severe skeletal involvement. N Engl J Med 1997;337:712.