Hereditary and Acquired Thrombophilic Disorders

Bick RL. Introduction to thrombosis: Proficient and cost-effective approaches to thrombosis. Hematol Oncol Clin North Am 2003;17:1-1.

Rees DS , Cox M , Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133-1133.

Svensson P , Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994;330:517-517.

Bontempo FA. The factor V Leiden mutation: Spectrum of thrombotic events and laboratory evaluation. J Vasc Surg 1997;2:271-271.

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;1:286-286.

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;89:1963-1963.

Bick RL. Syndromes of thrombosis and hypercoagulability. Med Clin North Am 1998;82:409-409.

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;336:399-399.

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;93:487-487.

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; 91:1140-1140.

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;90:1552-1552.

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;80:126-126.

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;88:3698-3698.

Martinelli I , Sacchi E , Landi G , et al. High risk of cerebralvein thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. N Engl J Med 1998;338:1793-1793.

Ratnoff OD , Colopy JE. A familial hemorrhagic trait associated with a deficiency of clot-promoting fraction of plasma. J Clin Invest 1955;34:602-602.

Mcpherson RA. Thromboembolism in Hageman trait. Am J Clin Pathol 1977;68:240-240.

Mosesson MW. Dysfibrinogenemia and thrombosis. Semin Thromb Hemost 1999;25:311-311.

McCully KS. Vascular pathology of homocystinemia: Implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56:111-111.

Lee R , Frenkel UP. Hyperhomocystinemia and thrombosis. Hematol Oncol Clin North Am 2003;17:85-85.

Vinazzer H. Hereditary and acquired antithrombin deficiency. Semin Thromb Hemost 1999;25:257-257.

Vinazzer H. Antithrombin III in shock and disseminated intravascular coagulation. Clin Appl Thromb Hemost 1995;1:62-62.

Tollefson DM , Majerus DW , Blank MK. Heparin cofactor II: Purification and properties of a heparin-dependent in hibitor of thrombin in human plasma. J Biol Chem 1982;257:2162-2162.

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;35:231-231.

Bick RL. Prothrombin G20210A mutation, antithrombin, heparin cofactor II, protein C and protein S defects. Hematol Oncol Clin North Am 2003;17:9-9.

Stenflo J. Structure and function of protein C. Semin Thromb Hemost 1984;10:109-109.

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;62:303-303.

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;269:21051-21051.

Kwaan HC , Nabhan C. Hereditary and acquired defects in the fibrinolytic system. Hematol Oncol Clin North Am 2003;17:103-103.

Brommer EJP , Engesser L , Briet E. Thrombophilia and hereditary increase in plasminogen activator inhibitor (PAI-1). Fibrinolysis 1988;2:83-83.

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;11:183-183.

Mammen EF , Barnhart MI , Selik NR , et al. “Sticky Platelet Syndrome”: A congenital platelet abnormality predisposing to thrombosis. Folia Haematol 1988;115:361-361.

Rubenfire M , Blevens RD , Barnhart MI , et al. Platelet hyperaggregability in patients with chest pain and angiographically normal coronary arteries. Am J Cardiol 1986;57:657-657.

Mammen EF. Ten year’s experience with the “sticky platelet syndrome.” J Clin Appl Thromb Hemost 1995;1:66-66.

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;4:77-77.

Anderson JA. Bleeding and thrombosis in women. Biomed Prog 1999;12:40-40.

Berg-Damer E , Henkes E , Trobisch H , Kuhne D. Sticky platelet syndrome: A cause of neurovascular thrombosis and thromboembolism. Intervent Neuroradiol 1997;3:145-145.

Bick RL. Antiphospholipid thrombosis syndromes. Hematol Oncol Clin North Am 2003;17:115-115.