The investigation and management of inherited thrombophilia

Clinical and Laboratory Haematology

Volumn 21, Issue 2, 1999, Pages 77-92

  Cumming, A M ^a   Shiach, C R ^a  

^a MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Clinical management; Inherited disorders; Laboratory diagnosis; Thrombophilia; Venous thromboembolism

Indexed keywords

ACTIVATED PROTEIN C RESISTANCE; ANTITHROMBIN DEFICIENCY; CASE FINDING; DIAGNOSTIC APPROACH ROUTE; DISEASE PREDISPOSITION; GENE MUTATION; GENETIC RISK; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; REVIEW; SCREENING TEST; THROMBOPHILIA; VEIN THROMBOSIS;

FACTOR V; FACTOR VIII; HUMANS; MUTATION; PROTHROMBIN; RISK FACTORS; THROMBOPHILIA;

EID: 0032910075     PISSN: 01419854     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2257.1999.00210.x     Document Type: Review

References (136)

1. Andersen B.S., Olsen J., Nielsen G.L. et al. (1998) Third generation oral contraceptives and heritable thrombophilia as risk factors of non-fatal venous thromboembolism. Thrombosis and Haemostasis 79, 28-31.
2. Andrew M., Vegh P., Johnston M., Bowker J., Ofosu F. & Mitchell L. (1992) Maturation of the hemostatic system during childhood. Blood 80, 1998-2005.
3. Arruda V.R., Annichino-Bizzacchi J.M., Goncalves M.S. & Costa F.F. (1997) Prevalence of the prothrombin gene variant (nt20210A) in venous thrombosis and arterial disease. Thrombosis and Haemostasis 78, 1430-1433.
4. Arruda V.R., von Zuhen P.M., Chiaparini L.C., Annichino-Bizzacchi J.M. & Costa F.F. (1997) The mutation Ala677 (Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thrombosis and Haemostasis 77, 818-821.
5. Badaracco M.A. & Vessey M.P. (1974) Recurrence of venous thromboembolic disease and use of oral contraceptives. British Medical Journal i, 215-217.
6. Baglin C., Brown K., Luddington R., Baglin T. & the East Anglia Thrombophilia Group. (1998) Risk of recurrent venous thromboembolism in patients with the factor V Leiden (FVR506Q) mutation: effects of warfarin and prediction by precipitating factors. British Journal of Haematology 100, 764-768.
7. Barbour L.A. (1997) Current concepts of anticoagulant therapy in pregnancy. Obstetrics and Gynecology Clinics of North America 24, 499-521.
8. Barlow D.H. (1997) HRT and the risk of deep vein thrombosis. International Journal of Gynaecology and Obstetrics 59 (Suppl. 1), S29-S33.
9. Beauchamp N.J., Daly M.E., Cooper P.C., Makris M., Preston F.E. & Peake I.R. (1996) Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden. Blood 88, 1700-1707.
10. Bertina R.M., Koeleman B.P.C., Koster T. et al. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369, 64-67.
11. Bertina R.M., Reitsma P.H., Rosendaal F.R. & Vandenbroucke J.P. (1995) Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thrombosis and Haemostasis 74, 449-453.
12. Bloemenkamp K.W.M., Rosendaal F.R., Helmerhorst F.M., Buller H.R. & Vandenbroucke J.P. (1995) Enhancement by Factor V Leiden mutation of risk of deep-vein thrombosis associated with oral contraceptives containing a third-generation progestagen. Lancet 346, 1593-1596.
13. Borgel D., Gandrille S. & Aiach M. (1997) Protein S deficiency. Thrombosis and Haemastasis 78, 351-356.
14. Brandt G., Gruppo R., Gleck C.J. et al. (1998) Sensitivity, specificify and predictive value of modified assays for protein C resistance in children. Thrombosis and Haemostasis 79, 567-570.
15. Brenner B., Mandel H., Lanir N. et al. (1997) Activated protein C resistance can be associated with recurrent fetal loss. British Journal of Haematology 97, 551-554.
16. Brenner B., Zivelin A., Lanir N., Greengard J.S., Griffin J.H. & Seligsohn U. (1996) Venous thromboembolism asssociated with double heterozygosity for R506Q: mutation of factor V and for T298M: mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis. Blood 88, 877-880.
17. Brown K., Luddington R., Williamson D., Baker P. & Baglin T. (1997) Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3′-untranslated region of the prothrombin gene. British Journal of Haematology 98, 907-909.
18. Carter C.J. (1994) The natural history and epidemiology of venous thrombosis. Progress in Cardiovascular Disease 36, 423-428.
19. Clarke R., Daly L., Robinson K. et al. (1991) Hyperhomocysteinemia: an independent risk factor for vascular disease. New England Journal of Medicine 324, 1149-1155.
20. Comp P.C. & Esmon C.T. (1984) Recurrent venous thromboembolism in patients with a partial deficiency of protein S. New England Journal of Medicine 311, 1525-1528.
21. Conard J., Horellou M.H., Dreden P.V., Lecompte T. & Samama M. (1990) Thrombosis and pregnancy in congenital deficiencies of ATIII, Protein C or Protein S. Study of 78 Women. Thrombosis and Haemostasis 63, 319-320.
22. Corral J., Iniesta J.A., Gonzalez-Conejero R. & Vicente V. (1996) Detection of factor V Leiden from a drop of blood by PCR-SSCP. Thrombosis and Haemostasis 76, 735-737.
23. Cumming A.M., Keeney S., Salden A., Bhavnani M., Shwe K.H. & Hay C.R.M. (1997a) The prothrombin gene G-20210A variant: prevalence in a UK anticoagulant clinic population. British Journal of Haematology 98, 353-355.
24. Cumming A.M., Keeney S., Salden A., Shanks D. & Hay C.R.M. (1997b) Potential misdiagnosis of factor V Leiden: a comparison of two genotyping techniques. Thrombosis and Haemostasis 77, 1217.
25. Cumming A.M., Tait R.C., Fildes S. & Hay C.R.M. (1996) Diagnosis of APC resistance during pregnancy. British Journal of Haematology 92, 1026-1027.
26. Cumming A.M., Tait R.C., Fildes S., Yoong A., Keeney S. & Hay C.R.M. (1995) Development of resistance to activated protein C during pregnancy. British Journal of Haematology 90, 725-727.
27. D'Angelo A. & Selhub J. (1997) Homocysteine and thrombotic disease. Blood 90, 1-11.
28. Dahlback B. (1991) Protein S and C4b-binding protein: components involved in regulation of the protein C anticoagulant system. Thrombosis and Haemostasis 66, 49-61.
29. Dahlback B. (1995a) Inherited thrombophilia: resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood 85, 607-614.
30. Dahlback B. (1995b) New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thrombosis and Haemostasis 74, 139-148.
31. Dahlback B. (1995c) Resistance to activated protein C, the Arg506 to Gln mutation in the factor V gene, and venous thrombosis. Thrombosis and Haemostasis 73, 739-742.
32. Dahlback B. (1997) Resistance to activated protein C caused by the factor V R506Q: mutation is a common risk factor for venous thrombosis. Thrombosis and Haemostasis 78, 483-488.
33. Dahlback B., Carlsson M. & Svensson (1993) Familial thrombophilia due to a previously unrecognised mechanism characterised by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proceedings of the National Academy of Sciences USA 90, 1004-1008.
34. Dahlback B. & Stenllo J. (1994) A natural anticoagulant pathway. Proteins C. S. C4b-Binding Protein and Thrombomodulin. In: Haemostasis, Thrombosis. Bloom A.L., Forbes C.D., Thomas D.P. & Tuddenham E.G.D., eds. Churchill Livingstone, Edinburgh, pp. 671-698.
35. De Bruijn S.F.T.M., Stam J., Koopman M.M.W. & Vandenbroucke J.P. (1998) Case-control study of risk of cerebral sinus thrombosis in oral contraceptive users who are carriers of hereditary prothrombotic conditions. British Medical Journal 316, 589-592.
36. De Stefano V., Finazzi G. & Mannucci P.M. (1996) Inherited thrombophilia: pathogenesis, clinical syndromes and management. Blood 87, 3531-3544.
37. De Stefano V., Leone G., Mastrangelo S. et al. (1994) Thrombosis during pregnancy and surgery in patients with congenital deficiency of antithrombin III, Protein C, Protein S. Thrombosis and Haemostasis 71, 799-800.
38. De Stefano V., Leone G., Mastrangelo S. et al. (1994) Clinical manifestations and management of inherited thrombophilia: Retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, Protein C, Protein S. Thrombosis and Haemostasis 72, 352-358.
39. De Vries J.I.P., Dekker G.A., Huijgens P.C., Jakobs C., Blomberg B.M.E. & van Geijn H.P. (1997) Hyperhomocysteinaemia and complicated pregnancies. British Journal of Obstetrics and Gynaecology 104, 1248-1254.
40. Degen S.J.F. & Davie E.W. (1987) Nucleotide sequence of the gene for human prothrombin. Biochemistry 26, 6165-6177.
41. Den Heijer M., Blom H.J., Gerrits W.B.J. et al. (1995) Is hyperhomocysteinemia a risk factor for recurrent venous thrombosis? Lancet 345, 882-885.
42. Den Heijer M., Koster T., Blom H.J. et al. (1996) Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. New England Journal of Medicine 334, 759-762.
43. Egeberg O. (1965) Inherited antithrombin deficiency causing thrombophilia. Thrombosis et Diathesis Haemorrhagica 13, 516-530.
44. Ehrenforth S., Ludwig G., Klinke S., Krause M. & Scharrer I. (1998) The prothrombin 20210 A allele is frequently coinherited in young carriers of the factor V Arg 506 to Gln mutation with venous thrombophilia. Blood 91, 2209-2210.
45. Faioni E.M., Valsecchi C., Palla A., Taiolli E., Razzari C. & Mannucci P.M. (1997) Free protein S deficiency is a risk factor for venous thrombosis. Thrombosis and Haemostasis 78, 1343-1346.
46. Falcon C.R., Cattaneo M., Panzeri D., Martinelli I. & Mannucci P.M. (1994) High prevalence of hyperhomocysteinemia in patients with juvenile venous thrombosis. Arteriosclerosis and Thrombosis 14, 1080-1083.
47. Frosst P., Blom H.J., Goyette P. et al. (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics 10, 111-113.
48. Galli M., Duca F., Ruggeri L., Finazzi G., Negri B. & Moia M. (1998) Congenital resistance to activated protein C in patients with lupus anticoagulants: evaluation of two functional assays. Thrombosis and Haemostasis 80, 246-249.
49. Gandrille S.G., Greengard J.S., Alhenc-Geleas M. et al. (1995) Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. Blood 86, 219-224.
50. Geerts W.H. & Jay R.M. (1996) Oral anticoagulants in the prevention and treatment of venous thromboembolism. In: Oral Anticoagulants. Poller L. & Hirsh J., eds. Arnold: London, pp. 97-122.
51. Girelli D., Prisco S., Trabetti E. et al. (1998) Methylenetetrahydrofolate reductase C677T: mutation, plasma homocysteine, and folate in subjects from northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an inportant genetic-environmental interaction. Blood 91, 4158-4163.
52. Griffin J.H., Evatt B., Zimmerman T.S., Kleiss A.J. & Widemen C. (1981) Deficiency of protein C in congenital thrombotic disease. Journal of Clinical Investigation 68, 1370-1373.
53. Halbmayer W.-M., Haushofer A., Schon R. & Fischer M. (1994) Influence of lupus anticoagulant on a commercially available kit for APC-resistance. Thrombosis and Haemostasis 72, 645-646.
54. Hallam P.J., Millar D.S., Krawczak M., Kakkar V.V. & Cooper D.N. (1995) Population differences in the frequency of the factor V variant among people with clinically symptomatic protein C deficiency. Journal of Medical Genetics 32, 543-545.
55. Heijboer H., Brandjes D.P.M., Buller H.R., Sturk A. & ten Cate J.W. (1990) Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. New England Journal of Medicine 323, 1512-1516.
56. Hillarp A., Dahlback B. & Zoller B. (1995) Activated protein C resistance: from phenotype to genotype and clinical practice. Blood Reviews 9, 201-212.
57. Hillarp A., Zoller B., Svensson P.J. & Dahlback B. (1997) The 20210 A allele of theprothrombin gene is a common risk factor among Swedish outpatients with verified deep vein thrombosis. Thrombosis and Haemostasis 78, 990-992.
58. Jacques P.F., Bostom A.G., Williams R.R. et al. (1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93, 7-9.
59. Jorquera J.I., Montoro J.M., Fernandez M.A., Aznar J.A. & Aznar J. (1994) Modified test for activated protein C resistance. Lancet 344, 1162-1163.
60. Kamphuisen P.W., Houwing-Duistermaat J.J., van Houwelingen H.C., Eikenboom J.C.J., Bertina R.M. & Rosendaal F.R. (1998) Familial clustering of factor VIII and von Willebrand factor levels. Thrombosis and Haemostasis 79, 323-327.
61. Kennedy C.R., Warner G., Kai M. & Chisholm M. (1995) Protein C deficiency and stroke in early life. Developmental Medicine and Child Neurology 37, 723-730.
62. Kirschbaum N.E. & Foster P.A. (1995) The polymerase chain reaction with sequence specific primers for the detection of the factor V mutation associated with activated protein C resistance. Thrombosis and Haemostasis 74, 874-878.
63. Kluijtmans L.A.J., den Heijer M., Reitsma P.H., Heil S.G., Blom H.J. & Rosendaal F.R. (1998) Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis. Thrombosis and Haemostasis 79, 254-258.
64. Koeleman B.P.C., Reitsma P.H., Allaart C.F. & Bertina R.M. (1994) Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84, 1031-1035.
65. Koeleman B.P.C., Van Rumpt D., Hamulyak K., Reitsma P.H. & Bertina R.M. (1995) Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families? Thrombosis and Haemostasis 74, 580-583.
66. Koster T., Blann A.D., Briet E., Vandenbroucke J.P. & Rosendaal F.R. (1995a) Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 345, 152-155.
67. Koster T., Rosendaal F.R., Briet E. et al. (1995b) Protein C deficiency in a controlled series of unselecled outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study). Blood 85, 2756-2761.
68. Lane D.A., Bayston T., Olds R.J. et al. (1997) Antithrombin mutation database. 2nd (1997) Update. Thrombosis and Haemostasis 77, 197-211.
69. Lane D.A. & Caso R. (1989) Antithrombin: structure, genomic organization, function and inherited deficiency. Balliere's Clinical Haematology 2, 961-998.
70. Lane D.A., Mannucci P.M., Bauer K.A. et al. (1996) Inherited thrombophilia: part 2. Thrombosis and Haemostasis 76, 824-834.
71. Lane D.A., Olds R.J., Boisclair M. et al. (1993) Antithrombin III mutation database: first update. Thrombosis and Haemostasis 70, 361-369.
72. Lindqvist P.G., Svensson P.J., Dahlback B. & Marsal K. (1998) Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss - a possible evolutionary selection mechanism. Thrombosis and Haemostasis 79, 69-73.
73. Ma J., Stampfer M.J., Hennekens C.H., et al. (1996) Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation 94, 2410-2416.
74. Makris M., Preston F.E., Beauchamp N.J. et al. (1997) Co-inheritance of the 20210 A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thrombosis and Haemostasis 78, 1426-1429.
75. Manco-Johnson M.J. (1997) Disorders of haemostasis in childhood: risk factors for venous thromboembolism. Thrombosis and Haemostasis 78, 710-714.
76. Mandel H., Brenner B., Berant M. et al. (1996) Coexistence of hereditary homocystinuria and factor V Leiden - effect on thrombosis. New England Journal of Medicine 334, 763-768.
77. Marlar R.A. & Mastovich S. (1990) Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment. Blood Coagulation and Fibrinolysis 1, 319-330.
78. Martinelli I., Landi G., Merati G., Cella R., Tosetto A. & Mannucci P.M. (1996) Factor V gene mutation is a risk factor for cerebral venous thrombosis. Thrombosis and Haemostasis 75, 393-394.
79. Martinelli I., Sacchi E., Landi G., Taioli E., Duca F. & Mannucci P.M. (1998) High risk of cerebral vein thrombosis in carriers of a prothrombin gene mutation and in users of oral contraceptives. New England Journal of Medicine 338, 1793-1797.
80. McColl M.D., Ramsey J.E., Tait R.C. et al. (1997) Risk factors for pregnancy associated venous thromboembolism. Thrombosis and Haemostasis 78, 1183-1188.
81. Miletich J., Sherman L. & Broze G. (1987) Absence of thrombosis in subjects with heterozygous protein C deficiency. New England Journal of Medicine 317, 991-996.
82. Montaruli B., Schinco P., Pannocchia A. et al. (1997) Use of modified functional assays for activated protein C resistance in patients with basally prolonged APTT. Thrombosis and Haemostasis 78, 1042-1048.
83. Morrell M.T. & Dunnill M.S. (1968) The post-mortem incidence of pulmonary embolism in a hospital population. British Journal of Surgery 55, 347-352.
84. Mustafa S., Pabinger I. & Mannhalter C. (1995) Protein S deficiency type I: identification of point mutations in 9 of 10 families. Blood 86, 3444-3451.
85. Nowak-Gotti U., Funk M., Mosch G., Wegerich B., Kornhuber B. & Breddin H.K. (1994) Univariant tolerance regions for fibrinogen, antithrombin III, protein C, protein S, plasminogen and alpha 2-antiplasmin in children using the new Automated Coagulation Laboratory (ACL) method. Klinical Pediatrics 206, 437-439.
86. O'Donnell J.O., Tuddenham E.G.D., Manning R., Kemball-Cook G., Johnson D. & Laffan M. (1997) High prevalence of elevated factor VIII levels in patients referred for thrombophilia screening: role of increased synthesis and relationship to the acute phase reaction. Thrombosis and Haemostasis 77, 825-828.
87. Olds R.J., Lane D.A., Chowdhury V., De Stefano V., Leone G. & Thein S.L. (1993) Complete nucleotide sequence of the antithrombin gene. Evidence for homologous recombination causing thrombophilia. Biochemistry 32, 4216-4224.
88. Pabinger I., Kyrle P.A., Heistinger M., Eichinger S., Wittmann E. & Lechner K. (1994a) The risk of thromboembolism in asymptomatic patients with protein C and protein S deficiency: a prospective cohort study. Thrombosis and Haemostasis 71, 441-445.
89. Pabinger I. & Schneider B. (1996) Thrombotic risk in hereditary antithrombin III. protein C, or protein S deficiency. A cooperative, retrospective study. Arteriosclerosis. Thrombosis and Vascular Biology 16, 742-748.
90. Pabinger I., Schneider B., the G.T.H. & study group on natural inhibitors. (1994b) Thrombotic risk of women with hereditary antithrombin III, protein C, and protein S deficiency taking oral contraceptive medication. Thrombosis and Haemostasis 71, 548-552.
91. Palareti G., Leali N., Coccheri S, et al. on behalf of the Italian Study on Complications of Oral Anticoagulant Therapy. (1996) Bleeding complications of oral anticoagulant treatment: an inception-cohort prospective collaborative study (ISCOAT). Lancet 348, 423-428.
92. Patracchini P., Aiello V., Palazzi P., Calzolari E. & Barnardi F. (1989) Sublocation of the human protein C gene on chromosome 2q13-14. Human Genetics 81, 191-192.
93. Perry D.J. (1994) Antithrombin and its inherited deficiencies. Blood Reviews 8, 37-55.
94. Poort S.R., Rosendaal F.R., Reitsma P.H. & Bertina R.M. (1996) A common genetic variant in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88, 3698-3703.
95. Preston F.E., Rosendaal F.R., Walker I.D. et al. (1996) Increased fetal loss in women with heritable thrombophilia. Lancet 348, 913-916.
96. Rabes J.P., Trossaert M., Conard J., Samama M., Giraudet P. & Boileau C. (1995) Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: Improved detection by PCR-mediated site-directed mutagenesis. Thrombosis and Haemostasis 74, 1379-1380.
97. Rai R., Regan L., Hadley E., Dave M. & Cohen H. (1996) Second-trimester pregnancy loss is associated with activated protein C resistance. British Journal of Haematology 92, 489-490.
98. Rees D.C. (1996) The population genetics of factor V Leiden (Arg506Gln). British Journal of Haematology 95, 579-586.
99. Reitsma P.H. (1997) Protein C deficiency: from gene defects to disease. Thrombosis and Haemostasis 78, 344-350.
100. Reitsma P.H., Bernardi F., Doig R.G. et al. (1995) Protein C deficiency: a database of mutations, 1995 update. Thrombosis and Haemostasis 73, 876-889.
101. Rosen S., Johansson K., Lindberg K. & Dahlback B. (1994) Multi-center evaluation of a kit for activated protein C resistance on various coagulation instruments using plasmas from healthy individuals. Thrombosis and Haemostasis 72, 255-260.
102. Rosendaal F.R. (1996) Oral contraceptives and screening for Factor V Leiden. Thrombosis and Haemostasis 75, 524-525.
103. Rosendaal F.R. (1997) Thrombosis in the young: epidemiology and risk factors. A focus on venous thrombosis. Thrombosis and Haemostasis 78, 1-6.
104. Rosendaal F.R., Doggen C.J.M., Zivelin A., et al. (1998) Geographic distribution of the 20210 G to A prothrombin variant. Thrombosis and Haemostasis 79, 706-708.
105. Rosendaal F.R., Koster T., Vandenbroucke J.P. & Reitsma P.H. (1995) High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85, 1504-1508.
106. Rosendaal F.R., Siscovick D.S., Schwartz S.M., Psaty B.M., Raghunathan T.E. & Vos H.L. (1997) A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 90, 1747-1750.
107. Rosing J., Tans G., Nicolaes G.A.F. et al. (1997) Oral contraceptives and venous thrombosis: different sensitivities to activated protein C in women using second- and third-generation oral contraceptives. British Journal of Haematology 97, 233-238.
108. Rotmensch S., Liberati M., Mittelmann M. & Ben-Rafael B. (1997) Activated protein C resistance and adverse pregnancy outcome. American Journal of Obstetrics and Gynecology 177, 170-173.
109. Salden A., Keeney S., Hay C.R.M. & Cumming A.M. (1997) The C677T MTHFR variant and the risk of venous thrombosis. British Journal of Haematology 99, 472.
110. Sanson B.-J., Friederich P.W., Simioni P. et al. (1996) The risk of abortion and stillbirth in antithrombin, Protein C, and Protein S deficient women. Thrombosis and Haemostasis 75, 387-388.
111. Schwartz H., Fischer M., Hopmeier P., Batard M.A. & Griffin H.H. (1984) Familial protein S deficiency is associated with recurrent thrombosis. Blood 64, 1297-1300.
112. Simioni P., Prandoni P., Lensing A.W.A. et al. (1997) The risk of recurrent venous thromboembolism in patients with an Arg 506 Gln mutation in the gene for factor V (Factor V Leiden). New England Journal of Medicine 336, 399-403.
113. Simmonds R.E., Ireland H., Kunz G. & Lane D.A. (1996) Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Blood 88, 4195-4204.
114. Simmonds R.E., Zoller B., Ireland H. et al. (1997) Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes. Blood 89, 4364-4370.
115. Spitzer W.O., Lewis M.A., Heinemaan L.A., Thorogood M. & MacRae K.D. (1996) Third generation oral contraceptives and risk of venons thromboembolic disorders: an international case-control study. Transnational Research Group on Oral Contraceptives and Health of Young Women. British Medical Journal 312, 83-88.
116. Strandness D.E., Langlois Y., Cramer M., Randlett A. & Thiele B.L. (1983) Long-term sequelae of acute venous thrombosis. Journal of the American Medical Association 250, 1289-1292.
117. Sutor A.H. & Uhl M. (1997) Diagnosis of thromboembolic disease during infancy and childhood. Seminars in Thrombosis and Hemostasis 23, 237-246.
118. Svensson P.J. & Dahlback B. (1994) Resistance to activated protein C as a basis for venous thrombosis. New England Journal of Medicine 330, 517-522.
119. Tait R.C., Walker I.D., Perry D.J. et al. (1994) Prevalence of antithrombin deficiency in the healthy population. British Journal of Haematology 87, 106-112.
120. Tait R.C., Walker I.D., Reitsma P.H. et al. (1995) Prevalence of protein C deficiency in the healthy population. Thrombosis and Haemostasis 73, 87-93.
121. Tosetto A., Missiaglia E., Frezzato M. & Rodeghiero F. (1997) The VITA project: C677T: mutation in the methylene-tetrahydrofolate reductase gene and risk of venous thromboembolism. British Journal of Haematology 97, 804-806.
122. Tosetto A. & Rodeghiero F. (1995) Diagnosis of APC resistance in patients on oral anticoagulant therapy. Thrombosis and Haemostasis 73, 732-733.
123. Tripodi A., Negri B., Bertina R.M. & Mannucci P.M. (1997) Screening for the FV: Q506 mutation evaluation of thirteen plasma-based methods for their diagnostic efficacy in comparison with DNA analysis. Thrombosis and Haemostasis 77, 436-439.
124. Trossaert M., Conard J., Horellou M.H. et al. (1994) Modified APC resistance assay for patients on oral anticoagulants. Lancet 344, 1709.
125. Uttenreuther-Fischer M.M., Vetter B.,Hellmann C. et al. (1997) Paediatric thrombo-embolism: the influence of non-genetic factors and the role of activated protein C resistance. European Journal of Pediatrics 156, 277-281.
126. Van Boven H.H., Reitsma P.H., Rosendaal F.R. et al. (1996) Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thrombosis and Haemostasis 75, 417-421.
127. Van der Meer F.J.M., Koster T., Vandenbroucke J.P., Briet E. & Rosendaal F.R. (1997) The Leiden Thrombophilia Study (LETS). Thrombosis and Haemostasis 78, 631-635.
128. Vandenbroucke J.P., Koster T., Briet E., Reitsma P.H., Bertina R.M. & Rosendaal F.R. (1994) Increased risk of venous thrombosis in oral contraceptive users who are carriers of Factor V Leiden mutation. Lancet 344, 1454-1457.
129. Vandenbrouke J.P., van der Meer F.J.M., Helmerhorst F.M. & Rosendaal F.R. (1996) Factor V Leiden: should we screen oral contraceptive users and pregnant women? British Medical Journal 313, 1127-1130.
130. Woodward M., Lowe G.D.O., Rumley A. et al. (1997) Epidemiology of coagulation factors, inhibitors and activation markers: the third Glasgow MONICA survey. II. Relationships to cardiovascular risk factors and prevalent cardiovascular disease. British Journal of Haematology 97, 785-797.
131. World Health Organization (1995) World Health Organisation collaborative study of cardiovascular disease and steroid hormone contraception. Effect of different progestagens in low oestrogen oral contraceptives on venous thromboembolic disease. Lancet 346, 1582-1588.
132. Zivelin A., Rosenberg N., Faier S. et al. (1998) A single genetic origin for the common prothrombotic G20210A: polymorphism in the prothrombin gene. Blood 92, 1119-1124.Zoller B., Berntsdotter A., Garcia de Frutos P. & Dahlback B. (1995) Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 85, 3518-3523.
133. Zivelin A., Rosenberg N., Faier S. et al. (1998) A single genetic origin for the common prothrombotic G20210A: polymorphism in the prothrombin gene. Blood 92, 1119-1124.Zoller B., Berntsdotter A., Garcia de Frutos P. & Dahlback B. (1995) Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 85, 3518-3523.
134. Zoller B., Garcia de Frutos P. & Dahlback B. (1995) Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type II deficiencies to be phenotypic variants of the same genetic disease. Blood 85, 3524-3531.
135. Zoller B., Svensson P.J., Dahlback B. & Hillarp A. (1998) The A20210: allele of the prothrombin gene is frequently associated with the factor V Arg 506 to Gln mutation but not with protein S deficiency in thrombophilic families. Blood 91, 2210-2211.
136. Zotz R.B., Maruhn-Debowski B. & Scharf R.E. (1996) Mutation in the gene coding forcoagulation factor V and resistance to activated protein C: detection of the genetic mutation by oligonucleotide ligation assay using a semi-automated system. Thrombosis and Haemostasis 76, 53-55.