Risk factors for clinical manifestations in carriers of Factor v Leiden and prothrombin gene mutations

Blood Coagulation and Fibrinolysis

Volumn 21, Issue 1, 2010, Pages 11-15

  DeSancho, Maria Teresa ^a   Berlus, Nickisha ^b   Christos, Paul J ^a   Rand, Jacob ^c  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

APLAs; Arterial thrombosis; Case control study; FVL; Hereditary thrombophilia; PGM; Recurrent pregnancy loss; Risk factors; Venous thrombosis

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; PHOSPHOLIPID ANTIBODY; PROTHROMBIN;

ABORTION; ADULT; ADVERSE OUTCOME; ARTERY THROMBOSIS; ARTICLE; BODY MASS; CASE CONTROL STUDY; CIGARETTE SMOKING; CONTROLLED STUDY; CROHN DISEASE; DEEP VEIN THROMBOSIS; DIABETES MELLITUS; ENVIRONMENTAL FACTOR; FAMILY HISTORY; FEMALE; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HEART INFARCTION; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HYPERCHOLESTEROLEMIA; HYPERHOMOCYSTEINEMIA; HYPERTENSION; IMMOBILIZATION; INFERTILITY; INJURY; INTRAUTERINE GROWTH RETARDATION; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; MYELOPROLIFERATIVE DISORDER; OBESITY; ORAL CONTRACEPTION; POSTOPERATIVE PERIOD; PREECLAMPSIA; PREGNANCY OUTCOME; PREGNANT WOMAN; PRIORITY JOURNAL; PUERPERIUM; RETROSPECTIVE STUDY; SECOND TRIMESTER PREGNANCY; SOLUTIO PLACENTAE; SUPERFICIAL THROMBOPHLEBITIS; THROMBOEMBOLISM; THROMBOPHILIA; TRANSIENT ISCHEMIC ATTACK; ULCERATIVE COLITIS;

3' UNTRANSLATED REGIONS; ACTIVATED PROTEIN C RESISTANCE; ADULT; ANTIBODIES, ANTIPHOSPHOLIPID; BIOLOGICAL MARKERS; BLOOD PROTEINS; CASE-CONTROL STUDIES; ESTROGENS; FACTOR V; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NEW YORK CITY; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PREGNANCY OUTCOME; PROGESTINS; PROTHROMBIN; PUERPERAL DISORDERS; RETROSPECTIVE STUDIES; RISK FACTORS; SELECTIVE ESTROGEN RECEPTOR MODULATORS; THROMBOPHILIA; THROMBOSIS;

EID: 75649149908     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32832d6ce7     Document Type: Article

References (27)

1. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344:1222-1231.
2. Ridker PM, Miletich JP, Hennekens CH, Buring JE. Ethnic distribution of factor V leiden in 4047 men and women: implications for venous thromboembolism screening. JAMA 1997; 277:1305-1307.
3. Dahlback B, Zoller B, Hillarp A. Inherited resistance to activated protein C caused by presence of the FV: Q506 allele as a basis of venous thrombosis. Haemostasis 1996; 26 (Suppl 4):301-314. (Pubitemid 26417450)
4. Price DT, Ridker PM. Factor V leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med 1997; 127:895-903.
5. Biousse V, Conard J, Brouzes C, Horellou MH, Ameri A, Bousser MG. Frequency of the 20210 G->A mutation in the 30-untranslated region of the prothrombin gene in 35 cases of cerebral venous thrombosis. Stroke 1998; 29:1398-1400.
6. Makris M, Preston FE, Beauchamp NJ, Cooper PC, Daly ME, Hampton KK, et al. Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost 1997; 78:1426-1429.
7. Reuner KH, Ruf A, Litfin F, Patscheke H. The mutation G20210->A in the prothrombin gene is a strong risk factor for pulmonary embolism. Clin Chem 1998; 44 (6 Pt 1):1365-1366.
8. Middeldorp S, Meinardi JR, Koopman MM, van Pampus EC, Hamulyak K, van Der Meer J, et al. A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism. Ann Intern Med 2001; 135:322-327.
9. Rey E, Kahn SR, David M, Shrier I. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 2003; 361:901-908.
10. Kutteh WH, Triplett DA. Thrombophilias and recurrent pregnancy loss. Semin Reprod Med 2006; 24:54-66.
11. Sarig G, Younis JS, Hoffman R, Lanir N, Blumenfeld Z, Brenner B. Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage. Fertil Steril 2002; 77:342-347.
12. Dizon-Townson D, Miller C, Sibai B, Spong CY, Thom E, WendelG Jr, et al. The relationship of the factor V leiden mutation and pregnancy outcomes for mother and fetus. Obstet Gynecol 2005; 106:517-524.
13. Glueck CJ, Gogenini S, Munjal J, Tracy T, Pranikoff J, Wang P. Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss. Fertil Steril 2007; 89:410-416.
14. Finan RR, Tamim H, Ameen G, Sharida HE, Rashid M, Almawi WY. Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population. Am J Hematol 2002; 71:300-305.
15. Kupferminc MJ, Eldor A, Steinman N, Many A, Bar-Am A, Jaffa A, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1999; 340:9-13.
16. Martinelli I, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Mannucci PM. The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. Br J Haematol 2000; 111:1223-1229.
17. Hiltunen L, Rautanen A, Rasi V, Kaaja R, Kere J, Krusius T, et al. An unfavorable combination of factor V leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis: a population-based nested case-control study. Thromb Res 2007; 119:423-432.
18. Ehrenforth S, Nemes L, Mannhalter C, Rosendaal FR, Koder S, Zoghlami- Rintelen C, et al. Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V: G1691A. J Thromb Haemost 2004; 2:430-436.
19. Gallus AS. Travel, venous thromboembolism, and thrombophilia. Semin Thromb Hemost 2005; 31:90-96.
20. Lalouschek W, Schillinger M, Hsieh K, Endler G, Tentschert S, Lang W, et al. Matched case-control study on factor V leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years. Stroke 2005; 36:1405-1409.
21. Minano A, Ordonez A, Espana F, Gonzalez-Porras JR, Lecumberri R, Fontcuberta J, et al. AB0 blood group and risk of venous or arterial thrombosis in carriers of factor V leiden or prothrombin G20210A polymorphisms. Haematologica 2008; 93:729-734.
22. Vandenbroucke JP, Rosing J, Bloemenkamp KW, Middeldorp S, Helmerhorst FM, Bouma BN, et al. Oral contraceptives and the risk of venous thrombosis. N Engl J Med 2001; 344:1527-1535. (Pubitemid 32429213)
23. Wu O, Robertson L, Langhorne P, Twaddle S, Lowe GD, Clark P, et al. Oral contraceptives, hormone replacement therapy, thrombophilias and risk of venous thromboembolism: a systematic review. The thrombosis: risk and economic assessment of thrombophilia screening (TREATS) study. Thromb Haemost 2005; 94:17-25.
24. Vandenbroucke JP, Koster T, Briet E, Reitsma PH, Bertina RM, Rosendaal FR. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V leiden mutation. Lancet 1994; 344:1453-1457.
25. Lichy C, Reuner KH, Buggle F, Litfin F, Rickmann H, Kunze A, et al. Prothrombin G20210A mutation, but not factor V leiden, is a risk factor in patients with persistent foramen ovale and otherwise unexplained cerebral ischemia. Cerebrovasc Dis 2003; 16:83-87.
26. Silverstein MD, Heit JA, Mohr DN, Petterson TM, O'Fallon WM, Melton LJ 3rd. Trends in the incidence of deep vein thrombosis and pulmonary embolism: a 25-year population-based study. Arch Intern Med 1998; 158:585-593.
27. Martinelli I, Battaglioli T, Razzari C, Mannucci PM. Type and location of venous thromboembolism in patients with factor V leiden or prothrombin G20210A and in those with no thrombophilia. J Thromb Haemost 2007; 5:98-101.