Thrombophilias and stroke: Diagnosis, treatment, and prognosis

Journal of Thrombosis and Thrombolysis

Volumn 20, Issue 2, 2005, Pages 113-126

  Fields, Madeline C ^a   Levine, Steven R ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Hypercoagulable states; Stroke; Thrombophilia

Indexed keywords

ANTICOAGULANT AGENT; ANTITHROMBIN III; ANTITHROMBOCYTIC AGENT; BLOOD CLOTTING FACTOR 5 LEIDEN; ESTROGEN; FIBRINOGEN RECEPTOR ANTAGONIST; HEPARIN; HIRUDIN; HOMOCYSTEINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIPOPROTEIN; LOW MOLECULAR WEIGHT HEPARIN; NICOTINIC ACID; PROTEIN C; PROTEIN S; PROTHROMBIN; THROMBIN INHIBITOR; TISSUE FACTOR PATHWAY INHIBITOR; WARFARIN;

AGE DISTRIBUTION; ANTICOAGULANT THERAPY; ANTICOAGULATION; ATHEROGENESIS; BLOOD CLOTTING DISORDER; CEREBROVASCULAR ACCIDENT; DISEASE PREDISPOSITION; ETHNOLOGY; FIBRINOLYSIS; GENE EXPRESSION REGULATION; GENETIC POLYMORPHISM; GENETIC REGULATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOASSAY; NONHUMAN; POINT MUTATION; PRIMARY PREVENTION; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BINDING; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; RECURRENT DISEASE; REVIEW; RISK ASSESSMENT; RISK FACTOR; RISK REDUCTION; SECONDARY PREVENTION; SEX DIFFERENCE; THROMBOCYTE; THROMBOPHILIA; VENOUS THROMBOEMBOLISM;

ANTICOAGULANTS; CEREBROVASCULAR ACCIDENT; CYSTATHIONINE BETA-SYNTHASE; FACTOR V; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HOMOCYSTEINE; HUMANS; HYPERHOMOCYSTEINEMIA; ISCHEMIC ATTACK, TRANSIENT; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PLATELET ACTIVATION; PLATELET AGGREGATION; POLYMORPHISM, GENETIC; PROGNOSIS; PROTEIN S DEFICIENCY; PROTHROMBIN; RECURRENCE; THROMBOPHILIA; WARFARIN;

EID: 27644470648     PISSN: 09295305     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11239-005-3205-5     Document Type: Review

References (62)

1. Furie K, Kelly PJ, Kistler JP. Coagulation studies, In: Chaturvedi SR, Levine, SR (eds.), Transient Ischemic Attacks. Blackwell Futura Publishing, 2004:214-231.
2. Lindsberg PJ, Grau AJ. Inflammation and infections as risk factors for ischemic stroke. Stroke 2003;34:2518-2532. 10.1161/ 01.STR.0000089015.51603.CC
3. Amico L, Caplan LR, Thomas C. Cerebrovascular complications of mucinous cancers. Neurology 1989;39:522-526 (erratum Neurology 1989;39:745). 2538778
4. Bushnell C, Siddiqi Z, Morgenlander JC, Goldstein LB. Use of specialized coagulation testing in the evaluation of patients with acute ischemic stroke. Neurology 2001;56:624-627. 11245714
5. Amiri M, Schmidley JW, Fink LM, Nazarian SM. Is testing for inherited coagulation inhibitor deficiencies in young stroke patients worthwhile? Clin Neurol Neurosurg 2000;102:219-222. 10.1016/S0303-8467(00)00108-6
6. Bushnell CD, Goldstein LB. Physician knowledge and practices in the evaluation of coagulopathies in stroke patients. Stroke 2002;33:948-953. 10.1161/01.STR.0000014583.17714.E0
7. De Moerloose P, Bounameaux HR, Mannucci PM. Screening tests for thrombophilic patients: Which tests, for which patient, by whom, when, and why? Semin Thromb Hemost 1998;24:321-327. 9763349
8. Gomez Garcia EB, van Goor MP, Leebeek FW, Brouwers GJ, Koudstaal PJ, Dippel DW. Elevated prothrombin is a risk factor for cerebral arterial ischemia in young adults. Clin Neurol Neurosurg 2002;104:285-288. 10.1016/S0303-8467(01)00202-5
9. Bushnell CD, Goldstein LB. Diagnostic testing for coagulopathies in patients with ischemic stroke. Stroke 2000;31:3067-3078. 11108774
10. Coull BM, Olson S. Hematological Abnormalities in Stroke. Handbook of Cerebrovascular Diseases, 2nd edition, Revised and Expanded. Marcel Dekker, 2005:713-741.
11. Wagner KR, Giles WH, Johnson CJ, et al. Platelet glycoprotein receptor IIIa polymorphism P1A2 and ischemic stroke risk: The Stroke Prevention in Young Women Study. Stroke 1998 29:581-585. 9506596
12. Farber CG, Lodder J, Kessels F, Troost J. Thrombin generation in platelet-rich plasma as a tool for the detection of hypercoagulability in young stroke patients. Pathophysiol Haemost Thromb 2003;33:52-58. 10.1159/000071642
13. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;369:64-67.
14. Jerrard-Dunne P, Evans A, McGovern R, et al. Ethnic differences in markers of thrombophilia: Implications for the investigation of ischemic stroke in multiethnic populations: The South London Ethnicity and Stroke Study. Stroke 2003;34:1821-1826. 10.1161/01.STR.0000083049.65008.5F
15. Soriente L, Coppola A, Madonna P. Homozygous C677T mutation of the 5,10 methylenetetrahydrofolate reductase gene and hyperomocysteinemia in Italian patients with a history of early-onset ischemic stroke. Stroke 1998;29:869-871. 9550528
16. Kittner SJ, Giles WH, Macho RF, et al. Homocysteine and risk of cerebral infarction in a biracial population. The stroke prevention in young women. Stroke 1999;30:1554-1560. 10436100
17. Madonna P, de Stefano V, Coppola A, et al. Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke. Stroke 2002;33:51-56. 10.1161/hs0102.100483
18. Pezzini A, Del Zotto E, Archetti S, et al. Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke. Stroke 2002;33:664-669. 10.1161/hs0302.103625
19. Tan NC, Venketasubramanian N, Saw SM, Tjia HT. Hyperhomocyst(e)inemia and risk of ischemic stroke among young Asian adults. Stroke 2002;33:1956-1962. 10.1161/01.STR.0000021899.08659.C8
20. Kristensen B, Malm J, Nilsson TK, et al. Hyperhomocysteinemia and hypofbrinolysis in young adults with ischemic stroke. Stroke 1999;30:974-980. 10229730
21. Beccia M, Mele MC, Ferrari M, Ranieri M, Barini A, Rasura M. Young stroke and basal plasma and post-methionine load homocysteine and cysteine levels 1 year after the acute event: Do plasma folates make the difference? Eur J Neurol 2004;11:269-275. 10.1046/ j.1468-1331.2003.00774.x
22. Lee KW, Lip GYH. Acute versus habitual exercise, thrombogenesis, and exercise intensity. Thromb Haemostat 2004;91:416-419.
23. Albert CM, Mittleman MA, Chae CU, Lee IM, Hennekens CH, Manson JE. Triggering of sudden death from cardiac cause by vigorous exercise. New Engl J Med 2000;343:1355-1361. 10.1056/NEJM200011093431902
24. Thrall G, Lip GYP. Exercise and the prothrombotic state. A paradox of cardiovascular prevention or an enhanced prothrombotic state? Arterioscler Thromb Vasc Biol 2005;25:265-266. 10.1161/ 01.ATV.0000154579.11213.da
25. Toole JF, Malinow MR, Chambless LE, et al. Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke, myocardial infarction, and death: The Vitamin Intervention for Stroke Prevention (VISP) randomized controlled trial. JAMA 2004;291:565-575. 10.1001/ jama.291.5.565
26. Bushnell CD, Datta SK, Goldstein LB. Cost implications of specialized coagulation testing for acute ischemic stroke. Journal of Stroke and Cerebrovascular Diseases 2001;10:279-283. 10.1053/jscd.2001.123777
27. Undas A, Brummel-Ziedins E, Mann KG. Statins and blood coagulation. Arterioscler Thromb Vasc Biol 2005;25:287-294. 10.1161/ 01.ATV.0000151647.14923.ec
28. Pruissen DM, Kappelle LJ, Algra A. Polymorphisms and risk of ischemic stroke (POLARIS) study: Rationale and design. Eur Neurol 2004;51:30-34. 10.1159/000074915
29. Pezzini A, Grassi M, Del Zotto E, et al. Cumulative effect of predisposing genotypes and their interaction with modifiable factors on the risk of ischemic stroke in young adults. Stroke 2005 (in press).
30. Butt C, Zheng H, Randell E, Robb D, Parfrey P, Xie YG. Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: Evidence of a gene-gene interaction. Blood 2003;101:3037-3041. 10.1182/blood-2002-09-2888
31. Perry IJ, Refsum H, Morris RW, et al. Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet 1995;25:1395-1398. 10.1016/S0140-6736(95)92407-8
32. Verhoef P, Hennekens CH, Malinow MR, Kok FJ, Willett WC, Stampfer MJ. A prospective study of plasma homocyst(e)ine and risk of ischemic stroke. Stroke 1994;25:1924-1930. 8091435
33. Pezzini A, Del Zotto E, Magoni M, et al. Inherited thrombophilic disorders in young adults with ischemic stroke and patent foramen ovale. Stroke 2003;34(1):28-33. 10.1161/01.STR.0000046457.54037.CC
34. Salobir B, Sabovic M, Peternel P, Stegnar M, Grad A. Classic risk factors, hypercoagulability and migraine in young women with cerebral lacunar infarctions. Acta Neurol Scand 2002;105(3):189-195. 10.1034/ j.1600-0404.2002.1o108.x
35. Salobir B, Sabovic M, Peternel P, Stegnar M. Vascular bed specific alterations in coagulation and fibrinolytic parameters in young women following myocardial infarction, lacunar cerebral infarction and deep vein thrombosis. Pathophysiol Haemost Thromb. 2003;33(2):96-101. 10.1159/000073853
36. Albucher JF, Guiraud-Chaumeil B, Chollet F, Cadroy Y, Sie P. Frequency of resistance to activated protein C due to factor V mutation in young patients with ischemic stroke. Stroke 1996;27(4):766-777. 8614946
37. DeStefano V, Chiusolo P, Paciaroni K, et al. Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 1998;91(10):3562-3565. 9572989
38. Tosetto A, Ruggeri M, Castaman G, Rodeghiero F. Inherited abnormalities of blood coagulation in juvenile stroke. A case-control study. Blood Coagul Fibrinolysis. 1997;8(7):397-402. 9391720
39. Kristensen B, Malm J, Nilsson TK, Hultdin J, Carl-Berg B, Olsson T. Increased fibrinogen levels and acquired hypofibrinolysis in young adults with ischemic stroke. Stroke 1998;29:2261-2267. 9804632
40. Naess H, Nyland HI, Thomassen L, Aarseth J, Myhr KM. Etiology of and risk factors for cerebral infarction in young adults in western Norway: a population-based case-control study. Eur J Neurol 2004;11(1):25-30. 10.1046/j.1351-5101.2003.00700.x
41. Aznar J, Mira Y, Vaya A, et al. Factor V Leiden and prothrombin G20210A mutations in young adults with cryptogenic ischemic stroke. Thromb Haemost 2004;91(5):1031-1034. 15116266
42. Lopaciuk S, Bykowska K, Kwiecinski H, et al. Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase C677T genotype in young adults with ischemic stroke. Clin Appl Thromb Hemost 2001;7(4):346-350. 11697722
43. Austin H, Chimowitz MI, Hill HA, et al. Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women. Genetics and Stroke in the Young Study Group. Stroke 2002;33(12):2762-2768. 10.1161/01.STR.0000038094.79901.3B
44. Musolino R, La Spina P, Granata A, et al. Ischaemic stroke in young people: A prospective and long-term follow-up study. Cerebrovasc Dis 2003;15(1-2):121-128. 10.1159/000067139
45. Vanschoonbeek K, Feijge MA, Keuren JF, et al. Thrombin-induced hyperactivity of platelets of young stroke patients: Involvement of thrombin receptors in the subject-dependent variability in Ca2+ signal generation. Thromb Haemost 2002;88(6):931-937. 12529741
46. Grossmann R, Geisen U, Merati G, et al. Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease. Blood Coagul Fibrinolysis 2002;13(7):583-590. 10.1097/00001721-200210000-00002
47. Hindorff LA, Schwartz SM, Siscovick DS, Psaty BM, Longstreth WT Jr, Reiner AP.The association of PAI-1 promoter 4G/5G insertion/deletion polymorphism with myocardial infarction and stroke in young women. Cardiovasc Risk 2002;9(2):131-137. 10.1097/00043798-200204000-00009
48. Jeng JS, Tang SC, Yip PK. Incidence and Etiologies of Stroke during Pregnancy and Puerperium as Evidenced in Taiwanese Women. Cerebrovasc Dis 2004;18(4):290-295. 10.1159/000080354
49. Kain K, Catto AJ, Carter AM, et al. Decreased fibrinolytic potential in South Asian women with ischaemic cerebrovascular disease. Br J Haematol 2001;114(1):155-161. 10.1046/j.1365-2141.2001.02916.x
50. Kofoed SC, Wittrup HH, Sillesen H, Nordestgaard BG. Fibrinogen predicts ischaemic stroke and advanced atherosclerosis but not echolucent, rupture-prone carotid plaques: The Copenhagen City Heart Study. Eur Heart J 2003;24(6):567-576. 10.1016/S0195-668X(02)00467-0
51. Margaglione M, D'Andrea G, Giuliani N, et al. Inherited prothrombotic conditions and premature ischemic stroke: Sex difference in the association with factor V Leiden. Arterioscler Thromb Vasc Biol 1999;19(7):1751-1756. 10397694
52. Martinelli I, Franchi F, Akwan S, Bettini P, Merati G, Mannucci PM. The transition G to A at position 20210 in the 3′-untranslated region of the prothrombin gene is not associated with cerebral ischemia. Blood 1997;90(9):3806. 9345069
53. Voetsch B, Benke KS, Panhuysen CI, Damasceno BP, Loscalzo J. The combined effect of paraoxonase promoter and coding region polymorphisms on the risk of arterial ischemic stroke among young adults. Arch Neurol 2004;61(3):351-356. 10.1001/archneur.61.3.351
54. van Goor ML, Gomez Garcia E, Brouwers GJ, Leebeek FW, Koudstaal PJ, Dippel DW. PLA1/A2 polymorphism of the platelet glycoprotein receptor IIb/IIIa in young patients with cryptogenic TIA or ischemic stroke. Thromb Res 2002;108(1):63-65. 10.1016/S0049-3848(02)00356-0
55. Pezzini A, Grassi M, Del Zotto E, et al. Synergistic effect of apolipoprotein E polymorphisms and cigarette smoking on risk of ischemic stroke in young adults. Stroke 2004;35(2):438-442. 10.1161/ 01.STR.0000112973.00867.98
56. Voetsch B, Benke KS, Panhuysen CI, Damasceno BP, Loscalzo J. The combined effect of paraoxonase promoter and coding region polymorphisms on the risk of arterial ischemic stroke among young adults. Arch Neurol 2004;61(3):351-356. 10.1001/archneur.61.3.351
57. Frank MB, Reiner AP, Schwartz SM, et al. The Kozak sequence polymorphism of platelet glycoprotein Ibalpha and risk of nonfatal myocardial infarction and nonfatal stroke in young women. Blood 2001;97(4):875-879. 10.1182/blood.V97.4.875
58. Greisenegger S, Endler G, Haering D, et al. The (-174) G/C polymorphism in the interleukin-6 gene is associated with the severity of acute cerebrovascular events. Thromb Res 2003;110(4):181-186. 10.1016/ S0049-3848(03)00376-1
59. Lichy C, Kropp S, Dong-Si T, et al. A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young. Stroke 2004;35(1):40-45. 10.1161/ 01.STR.0000106909.75418.E4
60. Lopaciuk S, Bykowska K, Kwiecinski H, Czlonkowska A, Kuczynska-Zardzewialy A. Protein Z in young survivors of ischemic stroke. Thromb Haemost 2002;88(3):536. 12353088
61. Reiner AP, Frank MB, Schwartz SM, et al. Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women. Br J Haematol 2002;116(2):376-382. 10.1046/ j.1365-2141.2002.03265.x
62. Albucher JF, Ferrieres J, Ruidavets JB, Guiraud-Chaumeil B, Perret BP, Chollet F. Serum lipids in young patients with ischaemic stroke: A case-control study. J Neurol Neurosurg Psychiatry 2000;69(1):29-33. 10.1136/jnnp.69.1.29