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2230 Part XII: Hemostasis and Thrombosis Chapter 130: Hereditary Thrombophilia 2231
26. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in 61. Key NS, McGlennen RC: Hyperhomocyst(e)inemia and thrombophilia. Arch Pathol
the 3'-untranslated region of the prothrombin gene is associated with elevated plasma Lab Med 126:1367, 2002.
prothrombin levels and an increase in venous thrombosis. Blood 88:3698, 1996. 62. den Heijer M, Lewington S, Clarke R: Homocysteine, MTHFR and risk of venous
27. Talbot S, Wakley EJ, Ryrie D, Langman MJ: ABO blood-groups and venous thrombo- thrombosis: A meta-analysis of published epidemiological studies. J Thromb Haemost
embolic disease. Lancet 1:1257, 1970. 3:292, 2005.
28. Koster T, Blann AD, Briet E, et al: Role of clotting factor VIII in effect of von Willebrand 63. Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR: No association between the common
factor on occurrence of deep-vein thrombosis. Lancet 345:152, 1995. MTHFR 677C->T polymorphism and venous thrombosis: Results from the MEGA
29. Mudd SH, Skovby F, Levy HL, et al: The natural history of homocystinuria due to cys- study. Arch Intern Med 167:497, 2007.
tathionine beta-synthase deficiency. Am J Hum Genet 37:1, 1985. 64. Lijfering W, Coppens M, Veeger NJ, et al: Hyperhomocysteinemia is not a risk factor
30. den Heijer M, Koster T, Blom HJ, et al: Hyperhomocysteinemia as a risk factor for for venous and arterial thrombosis, and is associated with elevated factor VIII levels.
deep-vein thrombosis. N Engl J Med 334:759, 1996. Thromb Res 123:244, 2008.
31. Reitsma PH, Rosendaal FR: Past and future of genetic research in thrombosis. J Thromb 65. den Heijer M, Willems HP, Blom HJ, et al: Homocysteine lowering by B vitamins and
Haemost 5(Suppl 1):264, 2007. the secondary prevention of deep-vein thrombosis and pulmonary embolism. A ran-
32. Finazzi G, Caccia R, Barbui T: Different prevalence of thromboembolism in the sub- domized, placebo-controlled, double blind trial. Blood 109:139, 2007.
types of congenital antithrombin III deficiency: Review of 404 cases. Thromb Haemost 66. Lonn E, Yusuf S, Arnold MJ, et al: Homocysteine lowering with folic acid and B vita-
58:1094, 1987. mins in vascular disease. N Engl J Med 354:1567, 2006.
33. Zoller B, Garcia de FP, Dahlback B: Evaluation of the relationship between protein S 67. Barco S, Nijkeuter M, Middeldorp S: Pregnancy and venous thromboembolism. Semin
and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating Thromb Hemost 39:549, 2013.
type I and type III deficiencies to be phenotypic variants of the same genetic disease. 68. Naess IA, Christiansen SC, Romundstad P, et al: Incidence and mortality of venous
Blood 85:3524, 1995. thrombosis: A population-based study. J Thromb Haemost 5:692, 2007.
34. Okajima K, Ueyama H, Hashimoto Y, et al: Homozygous variant of antithrombin III 69. Bezemer ID, van der Meer FJ, Eikenboom JC, et al: The value of family history as a risk
that lacks affinity for heparin, AT III Kumamoto. Thromb Haemost 61:20, 1989. indicator for venous thrombosis. Arch Intern Med 169:610, 2008.
35. Ishiguro K, Kojima T, Kadomatsu K, et al: Complete antithrombin deficiency in mice 70. de Jong PG, Coppens M, Middeldorp S: Duration of anticoagulant therapy for venous
results in embryonic lethality. J Clin Invest 106:873, 2000. thromboembolism: Balancing benefits and harms on the long term. Br J Haematol
36. Seligsohn U, Berger A, Abend M, et al: Homozygous protein C deficiency manifested by 158:433, 2012.
massive venous thrombosis in the newborn. N Engl J Med 310:559, 1984. 71. Baglin T, Luddington R, Brown K, Baglin C: Incidence of recurrent venous thrombo-
37. Mahasandana C, Suvatte V, Marlar RA, et al: Neonatal purpura fulminans associated embolism in relation to clinical and thrombophilic risk factors: Prospective cohort
with homozygous protein S deficiency. Lancet 335:61, 1990. study. Lancet 362:523, 2003.
38. McGehee WG, Klotz TA, Epstein DJ, Rapaport SI: Coumarin necrosis associated with 72. Brouwer JL, Lijfering WM, Ten Kate MK, et al: High long-term absolute risk of recur-
hereditary protein C deficiency. Ann Intern Med 101:59, 1984. rent venous thromboembolism in patients with hereditary deficiencies of protein S,
39. Grimaudo V, Gueissaz F, Hauert J, et al: Necrosis of skin induced by coumarin in a protein C or antithrombin. Thromb Haemost 101:93, 2009.
patient deficient in protein S. BMJ 298:233, 1989. 73. Segal JB, Brotman DJ, Necochea AJ, et al: Predictive Value of Factor V Leiden and
40. Weiss P, Soff GA, Halkin H, Seligsohn U: Decline of proteins C and S and factors II, VII, Prothrombin G20210A in Adults With Venous Thromboembolism and in Family
IX and X during the initiation of warfarin therapy. Thromb Res 45:783, 1987. Members of Those With a Mutation: A Systematic Review. JAMA 301:2472, 2009.
41. Heijboer H, Brandjes DP, Buller HR, et al: Deficiencies of coagulation-inhibiting and 74. Lijfering WM, Middeldorp S, Veeger NJ, et al: Risk of recurrent venous thrombosis in
fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 323:1512, 1990. homozygous carriers, and double heterozygous carriers of factor V Leiden and proth-
42. Miletich J, Sherman L, Broze G Jr: Absence of thrombosis in subjects with heterozygous rombin G20210A. Circulation 121:1706, 2010.
protein C deficiency. N Engl J Med 317:991, 1987. 75. van den Belt AG, Sanson BJ, Simioni P, et al: Recurrence of venous thromboembolism
43. Tait RC, Walker ID, Perry DJ, et al: Prevalence of antithrombin deficiency in the healthy in patients with familial thrombophilia. Arch Intern Med 157:2227, 1997.
population. Br J Haematol 87:106, 1994. 76. Vossen CY, Walker ID, Svensson P, et al: Recurrence rate after a first venous thrombosis
44. Tait RC, Walker ID, Reitsma PH, et al: Prevalence of protein C deficiency in the healthy in patients with familial thrombophilia. Arterioscler Thromb Vasc Biol 25:1992, 2005.
population. Thromb Haemost 73:87, 1995. 77. Cannegieter SC, van Hylckama Vlieg A. Venous thrombosis: Understanding the para-
45. Rosing J, Hoekema L, Nicolaes GA, et al: Effects of protein S and factor Xa on peptide doxes of recurrence. J Thromb Haemost 11(Suppl 1):161, 2013.
bond cleavages during inactivation of factor Va and factor VaR506Q by activated pro- 78. Casas JP, Hingorani AD, Bautista LE, Sharma P: Meta-analysis of genetic studies in
tein C. J Biol Chem 270:27852, 1995. ischemic stroke: Thirty-two genes involving approximately 18,000 cases and 58,000
46. Rees DC, Cox M, Clegg JB: World distribution of factor V Leiden. Lancet 346:1133, 1995. controls. Arch Neurol 61:1652, 2004.
47. Zivelin A, Mor-Cohen R, Kovalsky V, et al: Prothrombin 20210G>A is an ancestral 79. Boekholdt SM, Kramer MH: Arterial thrombosis and the role of thrombophilia. Semin
prothrombotic mutation that occurred in whites approximately 24,000 years ago. Blood Thromb Hemost 33:588, 2007.
107:4666, 2006. 80. Mahmoodi BK, Brouwer JL, Veeger NJ, van der Meer J: Hereditary deficiency of protein
48. Van Mens TE, Levi M, Middeldorp S: Evolution of factor V Leiden. Thromb Haemost C or protein S confers increased risk of arterial thromboembolic events at a young age:
110:23, 2013. Results from a large family cohort study. Circulation 118:1659, 2008.
49. Lindqvist PG, Svensson PJ, Dahlback B, Marsal K: Factor V Q506 mutation (activated 81. Bank I, Van de Poel MH, Coppens M, et al: Absolute annual incidences of first events
protein C resistance) associated with reduced intrapartum blood loss—A possible evo- of venous thromboembolism and arterial vascular events in individuals with elevated
lutionary selection mechanism. Thromb Haemost 79:69, 1998. FVIII:c: A prospective family cohort study. Thromb Haemost 98:1040, 2007.
50. Lindqvist PG, Zoller B, Dahlback B: Improved hemoglobin status and reduced men- 82. Rosendaal FR, Varekamp I, Smit C, et al: Mortality and causes of death in Dutch hae-
strual blood loss among female carriers of factor V Leiden—An evolutionary advan- mophiliacs, 1973–86. Br J Haematol 71:71, 1989.
tage? Thromb Haemost 86:1122, 2001. 83. Homocysteine Studies Collaboration: Homocysteine and risk of ischemic heart disease
51. Cohn DM, Repping S, Buller HR, et al: Increased sperm count may account for high and stroke: A meta-analysis. JAMA 288:2015, 2002.
population frequency of factor V Leiden. J Thromb Haemost 8:513, 2010. 84. Klerk M, Verhoef P, Clarke R, et al: MTHFR 677C—>T polymorphism and risk of cor-
52. van Dunne FM, Doggen CJ, Heemskerk M, et al: Factor V Leiden mutation in relation to onary heart disease: A meta-analysis. JAMA 288:2023, 2002.
fecundity and miscarriage in women with venous thrombosis. Hum Reprod 20:802, 2005. 85. Robertson L, Wu O, Langhorne P, et al: Thrombophilia in pregnancy: A systematic
53. Kaandorp SP, Van Mens TE, Middeldorp S, et al: Time to conception and time to live review. Br J Haematol 132:171, 2006.
birth in women with unexplained recurrent miscarriage. Hum Reprod 29:1146, 2014. 86. Opatrny L, David M, Kahn SR, et al: Association between antiphospholipid antibod-
54. Carter AM, Sachchithananthan M, Stasinopoulos S, et al: Prothrombin G20210A is a ies and recurrent fetal loss in women without autoimmunie disease: A metaanalysis. J
bifunctional gene polymorphism. Thromb Haemost 87:846, 2002. Rheumatol 33:2214, 2006.
55. Cumming AM, Keeney S, Salden A, et al: The prothrombin gene G20210A variant: 87. Clark P, Walker ID, Govan L, et al: The GOAL study: A prospective examination of the
Prevalence in a U.K. anticoagulant clinic population. Br J Haematol 98:353, 1997. impact of factor V Leiden and ABO(H) blood groups on haemorrhagic and thrombotic
56. Rosendaal FR, Doggen CJ, Zivelin A, et al: Geographic distribution of the 20210 G to A pregnancy outcomes. Br J Haematol 140:236, 2008.
prothrombin variant. Thromb Haemost 79:706, 1998. 88. Kahn SR, Platt R, McNamara H, et al: Inherited thrombophilia and preeclampsia within a
57. Kamphuisen PW, Eikenboom JC, Bertina RM: Elevated factor VIII levels and the risk of multicenter cohort: The Montreal Preeclampsia Study. Am J Obstet Gynecol 200:151, 2009.
thrombosis. Arterioscler Thromb Vasc Biol 21:731, 2001. 89. Bose P, Black S, Kadyrov M, et al: Heparin and aspirin attenuate placental apoptosis in
58. Bank I, Libourel EJ, Middeldorp S, et al: Elevated levels of FVIII:c within families are vitro: Implications for early pregnancy failure. Am J Obstet Gynecol 192:23, 2005.
associated with an increased risk for venous and arterial thrombosis. J Thromb Haemost 90. An J, Waitara MS, Bordas M, et al: Heparin rescues factor V Leiden-associated placental
3:79, 2005. failure independent of anticoagulation in a murine high-risk pregnancy model. Blood
59. Jacques PF, Bostom AG, Williams RR, et al: Relation between folate status, a common 121:2127, 2013.
mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concen- 91. Marchetti M, Pistorio A, Barosi G: Extended anticoagulation for prevention of recur-
trations. Circulation 93:7, 1996. rent venous thromboembolism in carriers of factor V Leiden: Cost-effectiveness analy-
60. Rosenberg N, Murata M, Ikeda Y, et al: The frequent 5,10-methylenetetrahydrofolate sis. Thromb Haemost 84:752, 2000.
reductase C677T polymorphism is associated with a common haplotype in whites, Jap- 92. Wu O, Robertson L, Twaddle S, et al: Screening for thrombophilia in high-risk sit-
anese, and Africans. Am J Hum Genet 70:758, 2002. uations: Systematic review and cost-effectiveness analysis. The Thrombosis: Risk and
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