Thrombophilia: clinical–practical aspects

Journal of Thrombosis and Thrombolysis

Volumn 39, Issue 3, 2015, Pages 367-378

  Moll, Stephan ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Deep vein thrombosis; Pulmonary embolism; Testing; Thrombophilia; Venous thromboembolism

Indexed keywords

ANTITHROMBIN; BLOOD CLOTTING FACTOR 5 LEIDEN; D DIMER; ETONOGESTREL; HOMOCYSTEINE; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LEVONORGESTREL; MEDROXYPROGESTERONE ACETATE; PHOSPHOLIPID ANTIBODY; PROTEIN C; PROTEIN S; PROTHROMBIN; ANTICOAGULANT AGENT;

ANTICOAGULATION; ARTERIAL THROMBOEMBOLISM; ARTERY THROMBOSIS; ARTICLE; CLINICAL DECISION MAKING; ENZYME ACTIVITY; ESTROGEN THERAPY; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTERNATIONAL NORMALIZED RATIO; INTRAUTERINE GROWTH RETARDATION; PREGNANCY COMPLICATION; PRIMARY PREVENTION; PRIORITY JOURNAL; RECURRENT DISEASE; RISK ASSESSMENT; RISK FACTOR; SOLUTIO PLACENTAE; THROMBOPHILIA; VENOUS THROMBOEMBOLISM; COMPLICATION; GENETICS; THROMBOSIS;

ANTICOAGULANTS; HUMANS; RISK FACTORS; THROMBOPHILIA; THROMBOSIS;

EID: 84925503203     PISSN: 09295305     EISSN: 1573742X     Source Type: Journal    
DOI: 10.1007/s11239-015-1197-3     Document Type: Article

References (40)

1. Eischer L, Gartner V, Schulman S, Kyrle PA, Eichinger S (2009) 6 versus 30 months anticoagulation for recurrent venous thrombosis in patients with high factor VIII. Ann Hematol 88:485–490
2. Kyrle PA, Minar E, Hirschl M et al (2000) High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 343:457–462
3. Legnani C, Cosmi B, Cini M, Frascaro M, Guazzaloca G, Palareti G (2004) High plasma levels of factor VIII and risk of recurrence of venous thormboembolism. Br J Haematol 124:504–510
4. Shrivastava S, Ridker PM, Glynn RJ et al (2006) D-dimer, factor VIII coagulant activity, low-intensity warfarin and the risk of recurrent venous thromboembolism. J Thromb Haemost 4:1208–1214
5. Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR (2005) Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA 293:2352–2361
6. Cushman M (2014) Thrombophilia testing in women with venous thrombosis: the 4 P’s approach. Clin Chem 60:134–137
7. Baglin T, Gray E, Greaves M et al (2010) Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 149:209–220
8. Hicks LK, Bering H, Carson KR et al (2014) Five hematologic tests and treatments to question. Blood 124:3524–3528
9. Moll S (2014) New insights into treatment of venous thromboembolism. Hematology 2014. American Society of Hematology Education Program: American Society of Hematology, American Society of Hematology, pp 297–305
10. Hicks LK, Bering H, Carson KR et al (2013) The ASH Choosing Wisely(R) campaign: five hematologic tests and treatments to question. Blood 122:3879–3883
11. Kearon C, Akl EA, Comerota AJ et al (2012) Antithrombotic therapy for VTE disease: antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest 141:e419S–e494S
12. Le Gal G, Kovacs MJ, Carrier M et al (2010) Risk of recurrent venous thromboembolism after a first oestrogen-associated episode. Data from the REVERSE cohort study. Thromb Haemost 104:498–503
13. Iorio A, Kearon C, Filippucci E et al (2010) Risk of recurrence after a first episode of symptomatic venous thromboembolism provoked by a transient risk factor: a systematic review. Arch Intern Med 170:1710–1716
14. Kim RJ, Becker RC (2003) Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J 146:948–957
15. Mahmoodi BK, Brouwer JLP, Veeger NJGM, Van der Meer J (2008) Hereditary deficiency of protein C or protein S confer increased risk of arterial thromboembolic events at a young age. Results from a large family cohort study. Circulation 118:1659–1667
16. Middeldorp S (2014) Anticoagulation in pregnancy complications. American Society of Hematology Education Program. Hematology 2014. American Society of Hematology Education Program: American Society of Hematology, Washington DC, pp 393–399
17. Bates SM (2014) Anticoagulation and in vitro fertilization and ovarian stimulation. Hematology 2014. American Society of Hematology Education Program: American Society of Hematology, Washington DC, pp 379–386
18. Rodger M (2014) Pregnancy and venous thromboembolism: ‘TIPPS’ for risk stratification. Hematology 2014. American Society of Hematology Education Program: American Society of Hematology, Washington DC, pp 387–392
19. ACOG Practice Bulletin No (2013) 138: inherited thrombophilias in pregnancy. Obstet Gynecol 122:706–717
20. Bates SM, G IA, Middeldorp S et al (2012) VTE, thrombophilia, antithrombotic therapy, and pregnancy: antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest 141:e691S–e736S
21. ACOG Practice Bulletin No. 123 (2011) Thromboembolism in pregnancy. Obstet Gynecol 118:718–729
22. ALIFE2 Study. Accessed at http://www.studies-obsgyn.nl/ALIFE2/page.asp?page_id=1344
23. Noboa S, Le Gal G, Lacut K et al (2008) Family history as a risk factor for venous thromboembolism. Thromb Res 122:624–629
24. Bezemer ID, van der Meer FJ, Eikenboom JC, Rosendaal FR, Doggen CJ (2009) The value of family history as a risk indicator for venous thrombosis. Arch Intern Med 169:610–615
25. Pomp ER, le Cessie S, Rosendaal FR, Doggen CJ (2007) Risk of venous thrombosis: obesity and its joint effect with oral contraceptive use and prothrombotic mutations. Br J Haematol 139:289–296
26. Lansberg MG, O’Donnell MJ, Khatri P et al (2012) Antithrombotic and thrombolytic therapy for ischemic stroke: antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest 141:e601S–e636S
27. National Clinical Guideline Centre. Venous thromboembolic diseases: The management of venous thromboembolic diseases and the role of thrombophilia testing. NICE Clinical Guideline, No. 144. http://www.nice.org.uk/nicemedia/live/13767/59720/59720.pdf. 2012.
28. Chong LY, Fenu E, Stansby G, Hodgkinson S (2012) Management of venous thromboembolic diseases and the role of thrombophilia testing: summary of NICE guidance. BMJ 344:e3979
29. Recommendations from the EGAPP Working Group (2011) Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G > A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. Genet Med 13:67–76
30. Lijfering WM, Brouwer JL, Veeger NJ, et al (2009) Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 113:5314–5322
31. Segal JB, Brotman DJ, Necochea AJ, et al (2009) 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 301:2472–2485
32. Lijfering WM, Middeldorp S, Veeger NJ, et al (2010) Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 121:1706–1712
33. Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG (2004) Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 140:330–337
34. Emmerich J, Rosendaal FR, Cattaneo M, et al (2001) Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism—pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. Thromb Haemost 86:809–816
35. Garcia D, Akl EA, Carr R, Kearon C (2013) Antiphospholipid antibodies and the risk of recurrence after a first episode of venous thromboembolism: a systematic review. Blood 122:817–824
36. Aldrighi JM, De Campos LS, Eluf Gebara OC, Petta CA, Bahamondes L (2006) Effect of a combined oral contraceptive containing 20 microg ethinyl estradiol and 75 microg gestodene on hemostatic parameters. Gynecol Endocrinol 22:1–4
37. Wiegratz I, Stahlberg S, Manthey T, et al (2008) Effects of conventional or extended-cycle regimen of an oral contraceptive containing 30 mcg ethinylestradiol and 2 mg dienogest on various hemostasis parameters. Contraception 78:384–391
38. Adcock DM, Gosselin R, Kitchen S, Dwyre DM (2013) The effect of dabigatran on select specialty coagulation assays. Am J Clin Pathol 139:102–109
39. Johnson NV, Khor B, Van Cott EM (2012) Advances in laboratory testing for thrombophilia. Am J Hematol 87(Suppl 1):S108–S112
40. Martinuzzo ME, Barrera LH, D’adamo MA, Otaso JC, Gimenez MI, Oyhamburu J (2014) Frequent false-positive results of lupus anticoagulant tests in plasmas of patients receiving the new oral anticoagulants and enoxaparin. Int J Lab Hematol 36:144-50