Hereditary and acquired thrombophilic disorders

Clinical and Applied Thrombosis/Hemostasis

Volumn 12, Issue 2, 2006, Pages 125-135

  Bick, Rodger L ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b Dallas Thrombosis Hemostasis and Vascular Medicine Clinical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; ANTITHROMBIN; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 9 CONCENTRATE; CHLORPROMAZINE; COCAINE; FANSIDAR; FIBRINOGEN; FOLIC ACID; FRESH FROZEN PLASMA; HEPARIN; HEPARIN COFACTOR II; HOMOCYSTEINE; HYDRALAZINE; INTERFERON; LOW MOLECULAR WEIGHT HEPARIN; ORAL CONTRACEPTIVE AGENT; PHOSPHOLIPID ANTIBODY; PROCAINAMIDE; PROTEIN C; PROTEIN S; PROTHROMBIN; PYRIDOXINE; QUINIDINE; TISSUE PLASMINOGEN ACTIVATOR; WARFARIN; BLOOD CLOTTING FACTOR; BLOOD CLOTTING INHIBITOR;

ACTIVATED PROTEIN C RESISTANCE; ANTICOAGULANT THERAPY; ANTIPHOSPHOLIPID SYNDROME; ANTITHROMBIN DEFICIENCY; BLOOD CLOTTING FACTOR 12 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CLINICAL FEATURE; DYSFIBRINOGENEMIA; FIBRINOLYSIS; GENE MUTATION; GENETIC DISORDER; HAPLOTYPE; HEART INFARCTION; HIGH RISK POPULATION; HOMOCYSTINURIA; HONG KONG; HUMAN; HYPERHOMOCYSTEINEMIA; INCIDENCE; LONG TERM CARE; OCCLUSIVE CEREBROVASCULAR DISEASE; ORAL CONTRACEPTION; PATIENT MONITORING; POINT MUTATION; PRIORITY JOURNAL; PROPHYLAXIS; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; REVIEW; SPONTANEOUS ABORTION; THROMBOCYTE ANOMALY; THROMBOPHILIA; THROMBOSIS; BLOOD CLOTTING DISORDER; GENETICS;

ANTIPHOSPHOLIPID SYNDROME; BLOOD COAGULATION DISORDERS, INHERITED; BLOOD COAGULATION FACTOR INHIBITORS; BLOOD COAGULATION FACTORS; HUMANS; THROMBOPHILIA; THROMBOSIS;

EID: 33747767588     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/107602960601200201     Document Type: Review

References (37)

1. Bick RL. Introduction to thrombosis: Proficient and cost-effective approaches to thrombosis. Hematol Oncol Clin North Am 2003;17:1.
2. Rees DS, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133.
3. Svensson P, Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994;330:517.
4. Bontempo FA. The factor V Leiden mutation: Spectrum of thrombotic events and laboratory evaluation. J Vasc Surg 1997;2:271.
5. Bick RL, Laughlin HR, Cohen B. Fetal wastage syndrome due to blood protein/platelet defects: Results of prevalence studies and treatment outcome with low-dose heparin and low-dose aspirin. Clin Appl Thromb Hemost 1995;1:286.
6. Hile ET, Westendorp RG, Vandenbroucke JP, et al. Mortality and causes of death in families with the factor V Leiden mutation (resistance to activated protein C). Blood 1997;89:1963.
7. Bick RL. Syndromes of thrombosis and hypercoagulability. Med Clin North Am 1998;82:409.
8. Simioni P, Prandoni P, Lensing AW, et al. The risk of recurrent venous thromboembolism in patients with an Arg506 → Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med 1997;336:399.
9. Rintelen C, Mannhalter C, Ireland H, et al. Oral contraceptives enhance the risk of clinical manifestation of venous thrombosis at a young age in females homozygous for factor V Leiden. Br J Haematol 1996;93:487.
10. Williamson D, Brown K, Luddingtonm R, et al. Factor V Cambridge: A new mutation (Arg306→Thr) associated with resistance to activated protein C. Blood 1998;91:1140.
11. Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from Factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997;90:1552.
12. Sugahara Y, Miura O, Aoki N. Protein C deficiency Hong Kong 1 and 2: Hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation. Blood 1992;80:126.
13. 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 an increase in venous thrombosis. Blood 1996;88:3698.
14. Martinelli I, Sacchi E, Landi G, et al. High risk of cerebral-vein thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. N Engl J Med 1998;338:1793.
15. Ratnoff OD, Colopy JE. A familial hemorrhagic trait associated with a deficiency of clot-promoting fraction of plasma. J Clin Invest 1955;34:602.
16. Mcpherson RA. Thromboembolism in Hageman trait. Am J Clin Pathol 1977;68:240.
17. Mosesson MW. Dysfibrinogenemia and thrombosis. Semin Thromb Hemost 1999;25:311.
18. McCully KS. Vascular pathology of homocystinemia: Implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56:111.
19. Lee R, Frenkel UP. Hyperhomocystinemia and thrombosis. Hematol Oncol Clin North Am 2003;17:85.
20. Vinazzer H. Hereditary and acquired antithrombin deficiency. Semin Thromb Hemost 1999;25:257.
21. Vinazzer H. Antithrombin III in shock and disseminated intravascular coagulation. Clin Appl Thromb Hemost 1995;1:62.
22. Tollefson DM, Majerus DW, Blank MK. Heparin cofactor II: Purification and properties of a heparin-dependent inhibitor of thrombin in human plasma. J Biol Chem 1982;257:2162.
23. Sie P, Fernandez F, Caranobe C. Inhibition of thrombin-induced platelet aggregation and serotonin release by antithrombin III and heparin cofactor II in the presence of standard heparin, dermatan sulfate and pentosan polysulfate. Thromb Res 1984;35:231.
24. Bick RL. Prothrombin G20210A mutation, antithrombin, heparin cofactor II, protein C and protein S defects. Hematol Oncol Clin North Am 2003;17:9.
25. Stenflo J. Structure and function of protein C. Semin Thromb Hemost 1984;10:109.
26. Marlar RA, Sills RH, Montgomery RR. Protein C in commercial factor IX (F IX) concentrations (CONC) and its use in the treatment of "homozygous" protein C deficiency. Blood 1998;62:303.
27. Hackeng TM, van't Veer C, Meijers JC, Bouma BN. Human protein S inhibits prothrombinase complex activity on endothelial cells and platelets via direct interactions with factors Va and Xa. J Biol Chem 1994;269:21051.
28. Kwaan HC, Nabhan C. Hereditary and acquired defects in the fibrinolytic system. Hematol Oncol Clin North Am 2003;17:103.
29. Brommer EJP, Engesser L, Briet E. Thrombophilia and hereditary increase in plasminogen activator inhibitor (PAI-1). Fibrinolysis 1988;2:83.
30. Dawson S, Hamsten A, Wiman B. Genetic variation at the plasminogen activator inhibitor-1 locus is associated with altered levels of plasma plasminogen activator inhibitor activity. Atherscler Thromb 1991;11:183.
31. Mammen EF, Barnhart MI, Selik NR, et al. "Sticky Platelet Syndrome": A congenital platelet abnormality predisposing to thrombosis. Folia Haematol 1988;115:361.
32. Rubenfire M, Blevens RD, Barnhart MI, et al. Platelet hyperaggregability in patients with chest pain and angiographically normal coronary arteries. Am J Cardiol 1986;57:657.
33. Mammen EF. Ten year's experience with the "sticky platelet syndrome." J Clin Appl Thromb Hemost 1995;1:66.
34. Bick RL. Sticky platelet syndrome: A common cause of unexplained venous and arterial thrombosis - results of prevalence and treatment outcome. J Clin Appl Thromb Hemost 1998;4:77.
35. Anderson JA. Bleeding and thrombosis in women. Biomed Prog 1999;12:40.
36. Berg-Damer E, Henkes E, Trobisch H, Kuhne D. Sticky platelet syndrome: A cause of neurovascular thrombosis and thromboembolism. Intervent Neuroradiol 1997;3:145.
37. Bick RL. Antiphospholipid thrombosis syndromes. Hematol Oncol Clin North Am 2003;17:115.