Inherited thrombophilia

Journal of Pharmacy Practice

Volumn 27, Issue 3, 2014, Pages 227-233

  Phillippe, Haley M ^a,b   Hornsby, Lori B ^a,c   Treadway, Sarah ^a,d   Armstrong, Emily M ^a,d   Bellone, Jessica M ^e  

^a AUBURN UNIVERSITY   (United States)

^b UNIVERSITY OF ALABAMA SCHOOL OF MEDICINE   (United States)

^c Midtown Medical Center   (United States)

^d UNIVERSITY OF SOUTH ALABAMA COLLEGE OF MEDICINE   (United States)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Antithrombin deficiency; Factor V Leiden; Hyperhomocysteinemia; Inherited thrombophilia; Protein C deficiency; Protein S deficiency; Prothrombin mutation; Thrombophilia

Indexed keywords

ALPHA TOCOPHEROL; ANTICOAGULANT AGENT; ANTITHROMBIN; APIXABAN; BLOOD CLOTTING FACTOR 10A INHIBITOR; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; CYANOCOBALAMIN; DABIGATRAN; ENOXAPARIN; FOLIC ACID; HOMOCYSTEINE; PLACEBO; PROTEIN C; PROTEIN S; PROTHROMBIN; PYRIDOXINE; RIVAROXABAN; THROMBIN INHIBITOR; VITAMIN B GROUP; WARFARIN; VITAMIN B COMPLEX; BLOOD CLOTTING FACTOR 11; HEPARIN; LOW MOLECULAR WEIGHT HEPARIN;

ANTICOAGULANT THERAPY; ANTITHROMBIN DEFICIENCY; ARTICLE; BLOOD CLOTTING; CARDIOVASCULAR DISEASE; DIABETES MELLITUS; DIET SUPPLEMENTATION; DRUG APPROVAL; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPERHOMOCYSTEINEMIA; INCIDENCE; INHERITED THROMBOPHILIA; PRACTICE GUIDELINE; PREVALENCE; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK; RISK ASSESSMENT; THROMBOPHILIA; THROMBOSIS; TREATMENT DURATION; VENOUS THROMBOEMBOLISM; COMPLICATION; GENETICS; HEMOSTASIS; METABOLISM; MUTATION; PHYSIOLOGY; GENETIC RISK; HEREDITY; HETEROZYGOSITY; HOMOZYGOTE; VITAMIN SUPPLEMENTATION;

HEMOSTASIS; HOMOCYSTEINE; HUMANS; MUTATION; THROMBOPHILIA; THROMBOSIS; VENOUS THROMBOEMBOLISM; VITAMIN B COMPLEX;

EID: 84904717762     PISSN: 08971900     EISSN: 15311937     Source Type: Journal    
DOI: 10.1177/0897190014530390     Document Type: Article

References (68)

1. Lindhoff-Last E, Luxembourg B. Evidence-based indications for thrombophilia screening. VASA. 2008; 37(1): 19-30. (Pubitemid 351341137)
2. Middeldorp S, Vlieg A. Does thrombophilia testing help in the clinical management of patients. Br J Haematol. 2008; 143(3): 321-335.
3. Cushman M, O'Meara ES, Folsom AR, et al. Coagulation factors IX through XIII and the risk of future venous thrombosis: the longitudinal investigation of thromboembolism etiology. Blood. 2009; 114(14): 2878-2883.
4. Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Haemorrh. 1965; 13: 516-530.
5. Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at ARg506 of factor V. Lancet. 1994; 343(8912): 1535-1536.
6. Poort S, Rosendaal F, Reitsma P, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associate with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996; 88(10): 3698-703. (Pubitemid 26383091)
7. Weingarz L, Schwonberg J, Schindewolf M, et al. Prevalence of thrombophilia according to age at the first manifestation of venous thromboembolism: results from the MAISTHRO registry. Br J Haematol. 2013; 163(5): 655-665.
8. Kearon C, Akl EA, Comerota AJ, et al. Antithrombotic therapy for VTE disease: antithrombotic therapy and prevention of thrombosis, 9th edition: American college of chest physicians evidencebased clinical practice guidelines. Chest. 2012; 141(2 suppl): e419S-e94 S.
9. Seligsohn U, Lubetzky A. Genetic susceptibility to venous thrombosis. N Engl J Med. 2001; 344(16): 1222-1231. (Pubitemid 32319498)
10. Dahlback B, Carlsson M, Svensson P. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: predication of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993: 90(3): 1004-1008. (Pubitemid 23053939)
11. Castoldi E, Rosing J. APC Resistance: biological basis for acquired influences. J Thromb Haemost. 2010; 8(3): 445-453.
12. Bertina R, Koeleman B, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994; 369(6475): 64-67. (Pubitemid 24144355)
13. Thomas R. Hypercoagulability syndromes. Arch Intern Med. 2001; 161(20): 2433-2439. (Pubitemid 33043116)
14. Koster T, Rosendaal F, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet. 1993; 342(8886-8887): 1503-1506. (Pubitemid 23362165)
15. Ridker P, Hennekens C, Lindpainter K, et al. 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 Med. 1995; 332(14): 912-917.
16. Rosendaal F, Koster T, Vandenbroucke J, et al. High risk of thrombosis in patients homozygous for FV Leiden (activated protein C resistance). Blood. 1995; 85(6): 1504-1508.
17. Vossen C, Conard J, Fontcuberta J, et al. Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The Europena prospective cohort on thormbophilia (EPCOT). J Thromb Haemos. 2005; 3(3): 459-464.
18. Middledorp S, Meinardi J, Koopman M, 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(5): 322-327. (Pubitemid 32823240)
19. Martinelli I, Bucciarelli P, Mannucci P. Thrombotic risk factors: Basic pathophysiology. Crit Care Med. 2010; 38(2 suppl): S3-S9.
20. Patnaik M, Moll S. Inherited antithrombin deficiency: a review. Haemophilia. 2008; 14(6): 1229-1239.
21. Thaler E, Leckner K. Antithrombin III deficiency and thromboembolism. Clin Haematol. 1981; 10(2): 369-390.
22. Walker I, Greaves M, Preston F. Investigation and management of heritable thrombophilia. Br J Haematol. 2001; 114(3): 512-528. (Pubitemid 32953628)
23. Rosendaal F. Risk factors for venous thrombotic disease. Thromb Haemost. 1999: 82: 610-619.
24. Van derMeerF,KosterT,Vandenbroucke J, et al. TheLeiden thrombophilia study (LETS). Thromb Haemost. 1997; 78(1): 631-635.
25. O'Donnell J, Mumford A, Manning R, et al. Elevation of FVII: C in venous thromboembolism is persistent and independent of the acute phase response. Thromb Haemost. 2000; 83(1): 10-13. (Pubitemid 30045468)
26. Kraaijenhagen R, Anker P, Koppman M, et al. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost. 2000; 83(1): 5-9. (Pubitemid 30045467)
27. Koster T, Blann A, Briet E, et al. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet. 1995; 345(8943): 152-155.
28. Meijers J, Tekelenburg W, Bouma B, et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med. 2000; 342(10): 696-701. (Pubitemid 30131422)
29. Vormittag R, Bencur P, Ay C, et al. Low-density lipoprotein receptor-related protein 1 polymorphism 663 CT affects clotting factor VIII activity and increases the risk of venous thromboembolism. J Thromb Haemost. 2007; 5(3): 497-502. (Pubitemid 46680681)
30. Smith N, Hindorff L, Heckbert S, et al. Association of genetic variations with nonfatal venous thrombosis in postmenopausal women. JAMA. 2007; 297(5): 489-498. (Pubitemid 46220804)
31. Van Hylckama Vlieg A, van der Linden I, Bertina R, et al. High levels of Factor IX increases the risk of venous thrombosis. Blood. 2000; 95(12): 3678-3682. (Pubitemid 30412836)
32. Van Minkelen R, de Visser MC, van Hylckama Vileg A, et al. Sequence variants and haplotypes of the Factor IX gene and the risk of venous thrombosis. J Thromb Haemost. 2008; 6(9): 1610-1613.
33. Oger E, Legal G, Couturaud F, et al. Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospitalbased case-control study. J Thromb Haemost. 2006; 4(4): 793-799.
34. Kearon C, Julian J, Kovacs M, et al. Influence of thrombophilia on risk of recurrent venous thromboembolism while on warfarin: results from a randomized trial. Blood. 2008; 112(12): 4432-4436.
35. Baglin C, Brown K, Luddington R, et al. Risk of recent venous thromboembolism in patients with the factor V Leiden (FVR506Q) mutation: effect of warfarin and prediction by precipitating factors: East Anglian thrombophilia study group. Br J Haematol. 1998; 100(4): 764-768. (Pubitemid 28126112)
36. Segal J, Brotman D, Necochea A, et al. Predictive value of Factor V Leiden and Prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA. 2009; 301(23): 2472-2485.
37. Holbrook A, Schulman S, Witt D. Evidence based management of anticoagulant therapy. antithrombotic therapy and prevention of thrombosis, 9th ed: American college of chest physicians evidencebased clinical practice guidelines. Chest. 2012; 141(2 suppl): e152S-e184S.
38. The EINSTEIN Investigators. Oral rivaroxaban for symptomatic venous thromboembolism. NEnglJMed. 2010; 363(26): 2499-2510.
39. The EINSTEIN Investigators. Oral rivaroxaban for symptomatic venous thromboembolism. N Engl J Med. 2010; 363: 2499-2510. Online Supplement. www. NEJM. org. AccessedDecember 20,2013.
40. The EINSTEIN-PE Investigators. Oral rivaroxaban for the treatment of symptomatic pulmonary embolism. N Engl J Med. 2012; 366(14): 1287-1297.
41. The EINSTEIN-PE Investigators. Oral rivaroxaban for the treatment of symptomatic pulmonary embolism. N Engl J Med. 2012; 366: 1287-1297. Online Supplement. www. NEJM. or. Accessed December 20, 2013.
42. Agnelli G, Buller H, Cohen A, et al. Oral apixaban for the treatment of acute venous thromboembolism. N Engl J Med. 2013; 369(9): 799-808.
43. Agnelli G, Buller H, Cohen A, et al. Apixaban for extended treatment of venous thromboembolism. N Engl J Med. 2013; 368(8): 699-708.
44. Schulman S, Kearon C, Kakkar A, et al. Dabigatran versus warfarin in the treatment of acute venous thromboembolism. N Engl J Med. 2009; 361: 2342-2352.
45. Schulman S, Kearon C, Kakkar A, et al. Extended use of dabigatran, warfarin, or placebo in venous thromboembolism. N Engl J Med. 2013; 368(8): 709-718.
46. Ridker P, Goldhaber S, Danielson E, et al. Long-term, lowintensity warfarin therapy for the prevention of recurrent venous thromboembolism. N Engl J Med. 2003; 348(15): 1425-1434. (Pubitemid 36407171)
47. Palareti G, Cosmi B, Legnani C, et al. D-Dimer testing to determine the duration of anticoagulation therapy. N Engl J Med. 2006; 355(17): 1780-1789. (Pubitemid 44631361)
48. Kearon C, Gent M, Hirsh J, et al. A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. N Engl J Med. 1999; 340(12): 901-907. (Pubitemid 29141050)
49. Christiansen S, Cannegieter S, Koster T, et al. Thrombophilia, clinical factors, and recurrent thromboembolic events. JAMA. 2005; 293(19): 2352-2361. (Pubitemid 40676757)
50. Miles J, Miletich J, Goldhaber S. G20210A mutation in the prothrombin gene and the risk of recurrent venous thromboembolism. J Am Coll Cardiol. 2001; 37(1): 215-218. (Pubitemid 32051741)
51. Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of Factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med. 2000; 343(7): 458-462.
52. DeStefano V, Martinelli I, Mannucci P, et al. The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. Br J Haematol. 2001; 113(3): 630-635. (Pubitemid 32524381)
53. Simioni P, Prandoni P, Lensing A, et al. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the Factor V gene mutation with a first episode of deep-vein thrombosis. Blood. 2000; 96(10): 3329-3333.
54. DeStefano V, Martinelli I, Mannucci P, et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both Factor V Leiden and the G20210A Prothrombin mutation. N Engl J Med. 1999; 341(11): 801-806. (Pubitemid 29420475)
55. Baglin T, Luddington R, Brown K, et al. Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. Lancet. 2003; 362(9383): 523-526. (Pubitemid 36976716)
56. Eichinger S, Weltermann A, Mannhalter C, et al. The risk of recurrent venous thromboembolism in heterozygous carriers of Factor V Leiden and a first spontaneous venous thromboembolism. Arch Intern Med. 2002; 162(20): 2357-2360. (Pubitemid 35332519)
57. Prandoni P, Lensing A, Cogo A, et al. The long-termclinical course of acute deep venous thrombosis. Ann InternMed. 1996; 125(1): 1-7.
58. Ho W, Hankey G, Quinlan D, et al. Risk of recurrent venous thromboembolism in patients with common thrombophilia. a systematic review. Arch Intern Med. 2006: 166(7): 729-736.
59. Marchiori A, Mosena L, Prins M, et al. The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. a systematic review of prospective studies. Haematologica. 2007; 92(8): 1107-1114. (Pubitemid 350144218)
60. DeStefano V, Simioni P, Rossi E, et al. The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica. 2006; 91(5): 695-698. (Pubitemid 43799473)
61. Prandoni P, Noventa F, Ghirarduzzi A, et al. The risk of recurrent venous thromboembolism after discontinuing anticoagulation in patients with acute proximal deep vein thrombosis or pulmonary embolism. A prospective cohort study in 1,626 patients. Haematologica. 2007; 92(2): 199-205.
62. Hansson P, Sorbo J, Eriksson H. Recurrent venous thromboembolism after deep vein thrombosis: incidence and risk factors. Arch Intern Med. 2000; 160(6): 769-774. (Pubitemid 30165237)
63. Boutitie F, Pinede L, Schulman S, et al. Influence of preceding duration of anticoagulation treatment and initial presentation of venous thromboembolism on risk of recurrence after stopping therapy: analysis of individual participants' data from seven trials. BMJ. 2011; 342: d3036.
64. Ray J, Kearon C, Yi Q, et al. Homocysteine-lowering therapy and risk for venous thromboembolism. Ann Intern Med. 2007; 146(11): 761-767. (Pubitemid 351650496)
65. Den Heijer M, Willems H, Blom H, et al. Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism. A randomized, placebo-controlled, double-blind trial. Blood. 2007; 109(1): 139-144. (Pubitemid 46053054)
66. Tait R, Walker I, Perry D, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 1994; 87(1): 106-112. (Pubitemid 24207007)
67. Tait R, Walker I, Reitsma P, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost. 1995; 73(1): 87-93.
68. Dykes A, Walker I, McMahon A, et al. A study of protein S antigen levels in 3788 healthy volunteers: influence of age, sex, and hormone use, and estimate for prevalence of deficiency state. Br J Haematol. 2001: 113(3): 636-641. (Pubitemid 32524382)