Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

Virchows Archiv

Volumn 448, Issue 3, 2006, Pages 337-343

  Schiffmann, Raphael ^a,b   Rapkiewicz, Amy ^c   Abu Asab, Mones ^c   Ries, Markus ^a   Askari, Kasan ^a   Tsokos, Maria ^c   Quezado, Martha ^c  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Atherosclerosis; Enzyme replacement therapy; Fabry disease; Glycolipids; Lysosomes; Myocardial infarction

Indexed keywords

AGALSIDASE ALFA; ALPHA GALACTOSIDASE; CARBAMAZEPINE; GLYCOLIPID; WARFARIN;

ACUTE HEART INFARCTION; ADULT; AORTA ATHEROSCLEROSIS; ARTICLE; AUTOPSY; BASILAR ARTERY; CARDIOMYOPATHY; CASE REPORT; CORONARY ARTERY ATHEROSCLEROSIS; ENDOTHELIUM CELL; ENZYME REPLACEMENT; FABRY DISEASE; HIGH RISK PATIENT; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; LEFT CORONARY ARTERY; LONG TERM CARE; LYSOSOME STORAGE DISEASE; MALE; PATHOLOGY; PRIORITY JOURNAL; RIGHT CORONARY ARTERY; X CHROMOSOME LINKED DISORDER;

ALPHA-GALACTOSIDASE; CORONARY ARTERY DISEASE; FABRY DISEASE; FATAL OUTCOME; HUMANS; KIDNEY DISEASES; MALE; MIDDLE AGED; MYOCARDIAL INFARCTION; MYOCARDIUM; MYOCYTES, CARDIAC; RECOMBINANT PROTEINS;

EID: 33644830752     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00428-005-0089-x     Document Type: Article

References (22)

1. (1984) Case 2-1984: Fabry's disease. N Engl J Med 310:1607
2. Altarescu G, Moore DF, Schiffmann R (2005) Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 64:2148-2150
3. Bodary PF, Shen Y, Vargas FB, Bi X, Ostenso KA, Gu S, Shayman JA, Eitzman DT (2005) Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation 111:629-632
4. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry's disease. Ceramide-trihexosidase deficiency. N Engl J Med 276:1163-1167
5. Desnick RJ, Ioannou YA, Eng CM (2001) a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733-3774
6. Duncan C, McLeod GM (1970) Angiokeratoma corporis diffusum universale (Fabry's disease): a case with gross myocardial involvement. Australas Ann Med 19:58-61
7. Elleder M (2003) Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 92:46-53; discussion 45
8. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ (2001) Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 345:9-16
9. Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME (1992) Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med 117:221-223
10. Gadoth N, Sandbank U (1983) Involvement of dorsal root ganglia in Fabry's disease. J Med Genet 20:309-312
11. Kampmann C, Wiethoff CM, Martin C, Wenzel A, Kampmann R, Whybra C, Miebach E, Beck M (2002) Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy. Acta Paediatr Suppl 91:21-27
12. Kotnik J, Kotnik F, Desnick RJ (2005) Fabry disease. A case report. Acta Dermatovenerolog Alp Panon Adriat 14:15-19
13. Linhart A, Lubanda JC, Palecek T, Bultas J, Karetova D, Ledvinova J, Elleder M, Aschermann M (2001) Cardiac manifestations in Fabry disease. J Inherit Metab Dis 24:75-83; discussion 65
14. Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, Pease-Fye M, Ferri R, Brady RO, Herscovitch P et al (2001) Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104:1506-1512
15. Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R (2004) Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality - an arterial spin tagging study. J Magn Reson Imaging 20:674-683
16. Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A (2005) Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol 33:164-168
17. Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y, Khurana RK, Brady RO (2003) Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28:703-710
18. Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO (2001) Enzyme replacement therapy in fabry disease: a randomized controlled trial. JAMA 285:2743-2749
19. Senechal M, Germain DP (2003) Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin Genet 63:46-52
20. Tabira T, Goto I, Kuroiwa Y, Kikuchi M (1974) Neuropathological and biochemical studies in Fabry's disease. Acta Neuropathol 30:345-354
21. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M (2002) Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62:1933-1946
22. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75:65-74