A woman with no significant personal or family history of thrombosis asked her internist to obtain a thrombophilia work-up prior to starting the combined oral contraceptive for dysmenorrhoea, after another physician advised her to have the test. The case was sent to an international email discussion group where the consensus was that testing should not be done. The responses of the group and review of this controversial topic are presented.
KosterT, RosendaalFR, de RondeH, BrietE, VandenbrouckeJP, BertinaRM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet1993;342:1503–6
3.
RidkerPM, HennekensCH, LindpaintnerK, StampferMJ, EisenbergPR, MiletichJP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med1995;332:912–7
4.
LijferingWM, CoppensM, VeegerNJ, Hyperhomocysteinemia is not a risk factor for venous and arterial thrombosis, and is associated with elevated factor VIII levels. Thromb Res2008;123:244–50
5.
LijferingWM, CoppensM, van de PoelMH, The risk of venous and arterial thrombosis in hyperhomocysteinaemia is low and mainly depends on concomitant thrombophilic defects. Thromb Haemost2007;98:457–63
6.
BauerKA. Screening for inherited thrombophilia in asymptomatic populations. In: BasowDS, ed. Up to Date. UpToDate: Waltham, MA, 2011
7.
GrodyWW, GriffinJH, TaylorAK, KorfBR, HeitJA. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med2001;3:139–48
8.
SteinPD, KayaliF, OlsonRE. Incidence of venous thromboembolism in infants and children: data from the National Hospital Discharge Survey. J Pediatr2004;145:563–5
9.
VandenbrouckeJP, van der MeerFJ, HelmerhorstFM, RosendaalFR. Factor V Leiden: should we screen oral contraceptive users and pregnant women?BMJ1996;313:1127–30
10.
van VlijmenEF, VeegerNJ, MiddeldorpS, Thrombotic risk during oral contraceptive use and pregnancy in women with factor V Leiden or prothrombin mutation: a rational approach to contraception. Blood2011;118:2055–61
11.
KjellbergU, van RooijenM, BremmeK, HellgrenM. Factor V Leiden mutation and pregnancy-related complications. Am J Obstet Gynecol2010;203:469 e461–8
12.
Infante-RivardC, RivardGE, YotovWV, Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. N Engl J Med2002;347:19–25
van der MeerFJ, RosendaalFR, VandenbrouckeJP, BrietE. Bleeding complications in oral anticoagulant therapy. An analysis of risk factors. Arch Intern Med1993;153:1557–62
15.
VandenbrouckeJP, RosingJ, BloemenkampKW, Oral contraceptives and the risk of venous thrombosis. N Engl J Med2001;344:1527–35
16.
De StefanoV, MartinelliI, MannucciPM, The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med1999;341:801–6
17.
BranchDW. The truth about inherited thrombophilias and pregnancy. Obstet Gynecol2010;115:2–4
