Genetic hypercoagulability: Prevention suggests testing family members

Blood

Volumn 98, Issue 1, 2001, Pages 21-22

  Mannucci, Pier Mannuccio ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; ANTITHROMBIN; BLOOD CLOTTING FACTOR 5 LEIDEN; PROTEIN S;

DNA POLYMORPHISM; EXON; FAMILY HISTORY; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HYPERCOAGULABILITY; PATIENT COUNSELING; PRIORITY JOURNAL; RISK FACTOR; SHORT SURVEY; THROMBOGENESIS; VEIN THROMBOSIS;

EID: 0035412379     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V98.1.21     Document Type: Short Survey

References (14)

1. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Prediction of a cofactor for activated protein C. Proc Natl Acad Sci U S A. 1993;90:1004-1008.
2. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
3. Koster T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet. 1993;342:1503-1506.
4. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-1134.
5. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and increase in venous thrombosis. Blood. 1996;88:3698-4703.
6. Vandenbroucke JP, Koster T, Briet E, et al. Increased risk of venous thrombosis in oral contraceptive users who are carriers of factor V Leiden. Lancet. 1994;344:1453-1457.
7. Vandenbroucke JP, van der Meer FJM, Helmerhorst FM, Rosendaal FR. Factor V Leiden: should we screen oral contraceptive users and pregnant women? Brit Med J. 1996;313:1127-1130.
8. Rosendaal FR, Heijboer H, Briet E, et al. Mortality in inherited antithrombin III deficiency 1830 to 1989. Lancet. 1991;337:260-262.
9. Allart CF, Rosendaal FR, Noteboom WMP, Briet E. No excess mortality in heterozygotes for hereditary protein C deficiency type 1-1820 to 1993. Thromb Haemost. 1995;73:1252.
10. De Stefano V, Leone G, Mastrangelo S, et al. 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. Thromb Haemost. 1994;72:352-358.
11. Sanson BJ, Simioni P, Tormene D, et al. The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: a prospective cohort study. Blood. 1999;94:3702-3706.
12. Middeldorp S, Henkens CM, Koopman MM, et al. The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med. 1998;128:15-20.
13. Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 1998;92:2353-2358.
14. Greaves M, Baglin T. Laboratory testing for heritable thrombophilia: impact on clinical management of thrombotic disease. Br J Haemat. 2000;109:699-703.