Fabry disease and Factor V Leiden: A potent vascular risk combination

Internal Medicine Journal

Volumn 41, Issue 5, 2011, Pages 422-426

  Tchan, M ^a   Sillence, D ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Fabry disease; Factor V Leiden; Stroke

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; ACETYLSALICYLIC ACID; ACTIVATED PROTEIN C; AGALSIDASE BETA; ATORVASTATIN; BLOOD CLOTTING FACTOR 5 LEIDEN; CHOLESTEROL; METOPROLOL; PERINDOPRIL; WARFARIN;

ACUTE HEART INFARCTION; ADULT; AMNESIA; ANGIOGRAPHY; ANHIDROSIS; ANTERIOR MYOCARDIAL INFARCTION; ARTICLE; BLOATING; BLOOD CLOT LYSIS; BRAIN INFARCTION; CARDIOVASCULAR RISK; CASE REPORT; CEREBROVASCULAR ACCIDENT; CONSTIPATION; DEFIBRILLATOR; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROPHYSIOLOGY; ENZYME REPLACEMENT; FABRY DISEASE; FRONTAL LOBE; GENETIC ANALYSIS; HEART VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM; HEART VENTRICLE TACHYCARDIA; HETEROZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; INTERNATIONAL NORMALIZED RATIO; LEARNING DISORDER; LEFT ANTERIOR DESCENDING CORONARY ARTERY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS; PRIORITY JOURNAL; SEIZURE; TEMPORAL LOBE; THORAX PAIN;

ACTIVATED PROTEIN C RESISTANCE; ALPHA-GALACTOSIDASE; ASPIRIN; CORONARY STENOSIS; DEFIBRILLATORS, IMPLANTABLE; DRUG THERAPY, COMBINATION; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FACTOR V; HEPTANOIC ACIDS; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERCHOLESTEROLEMIA; MALE; METOPROLOL; MIDDLE AGED; PERINDOPRIL; PYRROLES; QUALITY OF LIFE; RECURRENCE; SEQUENCE DELETION; STENTS; STROKE; THROMBOPHILIA; WARFARIN;

EID: 79956259378     PISSN: 14440903     EISSN: 14455994     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2011.02483.x     Document Type: Article

References (35)

1. Clarke JT. Narrative review: Fabry disease. Ann Intern Med 2007; 146: 425-33.
2. Breunig F, Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 2008; 21: 32-7.
3. Linhart A, Lubanda JC, Palecek T, Bultas J, Karetova D, Ledvinova J etal. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001; 24 (Suppl 2): 75-83; discussion 65.
4. Clavelou P, Besson G, Elziere C, Ferrier A, Pinard JM, Hermier M etal. Neurological aspects of Fabry's disease. Rev Neurol (Paris) 2006; 162:569-80. (In French.)
5. Mehta A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr Suppl 2005; 94: 24-7; discussion 9-10.
6. Low M, Nicholls K, Tubridy N, Hand P, Velakoulis D, Kiers L etal. Neurology of Fabry disease. Intern Med J 2007; 37: 436-47.
7. Baptista MV, Ferreira S, Pinho EMT, Carvalho M, Cruz VT, Carmona C etal. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study - screening genetic conditions in Portuguese young stroke patients. Stroke 2010; 41: 431-6.
8. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P etal. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794-6.
9. Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M etal. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 2010; 41: 78-81.
10. Rosendorff A, Dorfman DM. Activated protein C resistance and Factor V Leiden: a review. Arch Pathol Lab Med 2007; 131: 866-71.
11. 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.
12. Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K etal. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001; 104: 1506-12.
13. Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT. The vascular dementia of Fabry's disease. Dement Geriatr Cogn Disord 1997; 8: 252-7.
14. Liston EH, Levine MD, Philippart M. Psychosis in Fabry disease and treatment with phenoxybenzamine. Arch Gen Psychiatry 1973; 29: 402-3.
15. Rombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE. Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab 2010; 99(Pt 2): 99-108.
16. DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G etal. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47: 229-33.
17. Moore DF, Kaneski CR, Askari H, Schiffmann R. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007; 257: 258-63.
18. Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T etal. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33:525-31.
19. Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging 2001; 11: 303-7.
20. Moore DF, Schiffmann R, Ulug AM. Elevated CNS average diffusion constant in Fabry disease. Acta Paediatr Suppl 2002; 91: 67-8.
21. Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD etal. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging 2004; 20: 674-83.
22. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R etal. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 2008; 105: 2812-17.
23. Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R etal. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 2008; 95: 163-8.
24. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A etal. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007; 28: 1228-35.
25. Elliott PM, Kindler H, Shah JS, Sachdev B, Rimoldi OE, Thaman R etal. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 2006; 92: 357-60.
26. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H etal. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79: 31-40.
27. Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005; 64: 2148-50.
28. Shen Y, Bodary PF, Vargas FB, Homeister JW, Gordon D, Ostenso KA etal. Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation. Stroke 2006; 37: 1106-8.
29. Mohrenschlager M, Pontz BF, Lanzl I, Podskarbi T, Henkel V, Ring J. Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. J Dtsch Dermatol Ges 2007; 5: 594-7.
30. Hemelsoet DM, Vantilborgh A, De Bleecker JL. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2006; 66: 1131; author reply 31.
31. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T etal. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-9.
32. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S etal. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 2001; 345: 9-16.
33. Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF, Peigne V etal. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract 2007; 61: 293-302.
34. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006; 21:345-54.
35. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M etal. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77-86.