Vascular complications of Fabry disease: Enzyme replacement and other therapies

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 94, Issue 447, 2005, Pages 28-33

  Hughes, D A ^a   Mehta, A B ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Fabry disease; Therapy; Vasculopathy

Indexed keywords

ACETYLSALICYLIC ACID; ALPHA GALACTOSIDASE; ALPHA TOCOPHEROL; ANTILIPEMIC AGENT; ANTIOXIDANT; ASCORBIC ACID; CARBAMAZEPINE; CYCLOSPORIN; DIPYRIDAMOLE; FOLIC ACID; GLOBOTRIAOSYLCERAMIDE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; METFORMIN; MULTIVITAMIN; WARFARIN; GLYCOSPHINGOLIPID;

ARTERY EMBOLISM; ARTERY THROMBOSIS; ATHEROSCLEROSIS; BRAIN ANGIOGRAPHY; BRAIN BLOOD VESSEL; BRAIN ISCHEMIA; CARDIOVASCULAR DISEASE; CELL FUNCTION; CELL LEVEL; CEREBROVASCULAR DISEASE; CHRONIC KIDNEY FAILURE; CONFERENCE PAPER; DRUG EFFECT; ENDOTHELIUM LESION; ENZYME REPLACEMENT; FABRY DISEASE; FOREARM BLOOD FLOW; HUMAN; HYPERCOAGULABILITY; KIDNEY DISEASE; MULTIPLE ORGAN FAILURE; OCCLUSIVE CEREBROVASCULAR DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; BLOOD FLOW; LIPIDOSIS; VASCULAR DISEASE;

ALPHA-GALACTOSIDASE; ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; ANTIOXIDANTS; ASPIRIN; BLOOD COAGULATION DISORDERS; BLOOD FLOW VELOCITY; DIPYRIDAMOLE; ENDOTHELIUM, VASCULAR; FABRY DISEASE; HUMANS; METABOLIC CLEARANCE RATE; PLATELET AGGREGATION INHIBITORS; TRIHEXOSYLCERAMIDES; VASCULAR DISEASES; VASODILATOR AGENTS;

EID: 16844371912     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035320510028760     Document Type: Conference Paper

References (45)

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramide-trihexosidase deficiency. N Engl J Med 1967;276:1163-7.
2. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p 3733-74.
3. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996;40:8-17.
4. Mohrenschlager M, Braun-Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 2003;4:189-96.
5. Maino JH. Fabry's disease (angiokeratoma corporis diffusum universale): ocular and associated findings. J Am Optom Assoc 1983;54:1061-5.
6. Elleder M. The spleen and storage disorders. In: Cuschieri A, Forbes CD, editors. Disorders of the spleen. Oxford: Blackwell Scientific Publications; 1994. p 151-90.
7. Elleder M. Fabry's disease: absence of storage as a feature of liver sinus endothelium. Acta Histochem 1985;77:33-6.
8. Elleder M, Bradova V, Smid F, Budesinsky M, Harzer K, Kustermann-Kuhn B, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 1990;417:449-55.
9. Ikari Y, Kuwako K, Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br Heart J 1992;68:323-5.
10. Shirai T, Ohtake T, Kimura M, Iwata M, Fujigaki Y, Takayanagi S, et al. Atypical Fabry's disease presenting with cholesterol crystal embolization. Intern Med 2000;39:646-9.
11. Elleder M. Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 2003;92(443):46-53.
12. Grewal RP. Stroke in Fabry's disease. J Neurol 1994;241:153-6.
13. Borsini W, Giuliacci G, Torricelli F, Pelo E, Martinelli F, Scordo MR. Anderson-Fabry disease with cerebrovascular complications in two Italian families. Neurol Sci 2002;23:49-53.
14. Moore DF, Ye F, Schiffmann R, Butman JA. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. Am J Neuroradiol 2003;24:1096-101.
15. De Groot WP. Angiokeratoma corporis diffusum Fabry. Dermatologica 1968;136:432-3.
16. Maisey DN, Cosh JA. Basilar artery aneurysm and Anderson-Fabry disease. J Neurol Neurosurg Psychiatry 1980;43:85-7.
17. Perrot X, Nighoghossian N, Derex L, Hermier M, Guffon N, Boulliat J, et al. Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry's disease. Rev Neurol (Paris) 2002;158:596-8.
18. Ritter M, Dittrich R, Droste DW. Microembolus detection in four patients with Fabry's disease: further support for a primarily microangiopathic origin of early cerebrovascular symptoms. Eur Neurol 2003;50:141-5.
19. Kampmann C, Wiethoff CM, Perrot A, Beck M, Dietz R, Osterziel KJ. The heart in Anderson Fabry disease. Z Kardiol 2002;91:786-95.
20. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-11.
21. Shah JS, Kindler H, Sachdev B, Rimoldi O, Tome M, McKenna WJ, et al. The effect of enzyme replacement therapy on coronary microvascular function in males with Fabry disease cardiomyopathy. Acta Paediatr 2005;94(Suppl 447):100.
22. Utsumi K, Yamamoto N, Kase R, Takata T, Okumiya T, Saito H, et al. High incidence of thrombosis in Fabry's disease. Intern Med 1997;36:327-9.
23. Oto S, Kart H, Kadayifcilar S, Ozdemir N, Aydin P. Retinal vein occlusion in a woman with heterozygous Fabry's disease. Eur J Ophthalmol 1998,8:265-7.
24. Tuppurainen K, Collan Y, Rantanen T, Hollmen A. Fabry's disease and cornea verticillata. A report of 3 cases. Acta Ophthalmol (Copenh) 1981;59:674-82.
25. Friedman GS, Wik D, Silva L, Abdou JC, Meier-Kriesche HU, Kaplan B, et al. Allograft loss in renal transplant recipients with Fabry's disease and activated protein C resistance. Transplantation 2000;69:2099-102.
26. Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, et al. alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci USA 1997;94:2540-4.
27. Eitzman DT, Bodary PF, Shen Y, Khairallah CG, Wild SR, Abe A, et al. Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. J Am Soc Nephrol 2003;14:298-302.
28. Moake JL. Haemolytic-uraemic syndrome: basic science. Lancet 1994;343:393-7.
29. Boushey CJ, Beresford SA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits for increasing folic acid intakes. JAMA 1995;274:1049-57.
30. Parnetti L, Bottiglieri T, Lowenthal D. Role of homocysteine in age-related vascular and non-vascular diseases. Aging (Milano) 1997;9:241-57.
31. Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr 2002;91(Suppl 439):57-61.
32. Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001;32:1559-62.
33. DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000;47:229-33.
34. Hilz MJ, Stemper B, Duetsch M, Haendl T, Welsch G, Mauer A, et al. Impaired limb blood flow in Fabry patients. Periph Nervous System 2001;6:130-91.
35. Sakuraba H, Igarashi T, Shibata T, Suzuki Y. Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease. Clin Genet 1987;31:349-54.
36. Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R. White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 2003;62:231-40.
37. Aggio MC, Martínez PA. Thrombophylic profile of Fabry patients in Argentina. Acta Paediatr 2005;94(Suppl 447):106-7.
38. Igarashi T, Sakuraba H, Suzuki Y. Activation of platelet function in Fabry's disease. Am J Hematol 1986;22:63-7.
39. Baker RJ, Hughes DA, Richfield L, Goodwin S, Milligan A, Mehta AB. Prevalence of genetic cardiovascular disease risk factors in female patients with Fabry disease. Acta Paediatr 2005;94(Suppl 447):107-8.
40. Baron K, Kim K-S, Whybra C, Mengel E, Beck M. Thromboembolic risk factors in Fabry disease. Acta Paediatr Suppl 93(443);98
41. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9.
42. Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001;104:1506-12.
43. Bradberry JC, Fagan SC, Gray DR, Moon YS. New perspectives on the pharmacotherapy of ischemic stroke. J Am Pharm Assoc (Wash DC) 2004;44:S46-56.
44. Department of Health. National service framework for coronary heart disease. London: Department of Health; 2000.
45. Novela C, Hennekens CH. Hypothesis: atorvastatin has pleiotropic effects that translate into early clinical benefits on cardiovascular disease. J Cardiovasc Pharmacol Ther 2004;9:61-3.