Investigation and management of heritable thrombophilia

British Journal of Haematology

Volumn 114, Issue 3, 2001, Pages 512-528

  Walker, I D ^a   Greaves, M ^a   Preston, F E ^a  

^a British Society for Haematology   (United Kingdom)

Author keywords

Case finding; Heritable thrombophilia; Thromboprophylaxis; Venous thromboembolism

Indexed keywords

ANTICOAGULANT AGENT; ANTITHROMBIN; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; FIBRINOGEN; HEPARIN; HOMOCYSTEINE; PROTEIN C; PROTEIN S; PROTHROMBIN; RALOXIFENE; SELECTIVE ESTROGEN RECEPTOR MODULATOR; SERINE PROTEINASE;

AGE; ANTICOAGULANT THERAPY; ANTICOAGULATION; ARTERY THROMBOSIS; DEEP VEIN THROMBOSIS; DIAGNOSTIC ACCURACY; GENE MUTATION; HORMONAL THERAPY; HUMAN; LABORATORY TEST; LIFESTYLE; LUNG EMBOLISM; OBESITY; PREGNANCY; PRIORITY JOURNAL; PUERPERIUM; REVIEW; RISK FACTOR; SEX DIFFERENCE; THROMBOPHILIA;

ACUTE DISEASE; ANTICOAGULANTS; CONTRACEPTIVES, ORAL, COMBINED; ESTROGEN REPLACEMENT THERAPY; FEMALE; HEPARIN, LOW-MOLECULAR-WEIGHT; HUMANS; MALE; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PUERPERAL DISORDERS; PULMONARY EMBOLISM; RISK FACTORS; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 0034791001     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02981.x     Document Type: Review

References (128)

1. New direct assay of free protein S antigen applied to the diagnosis of protein S deficiency
2. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency
3. Subcutaneous heparin therapy during pregnancy: A need for concern at the time of delivery
4. A FV genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype
5. Mutation in blood coagulation factor V association with resistance to activated protein C
6. Resistance to activated protein C and FV Leiden as risk factors for venous thrombosis
7. Gestational outcome in thrombophilic women with recurrent pregnancy loss treated by enoxaparin
8. Safety of withholding heparin in pregnant women with a history of venous thromboembolism
9. Guidelines on investigation and management of thrombophilia
10. Guidelines on the prevention, investigation and treatment of thrombosis associated with pregnancy
11. Guidelines on oral anticoagulants, 3rd edn.
12. Activated protein C sensitivity, protein C, protein S and coagulation in normal pregnancy
13. Functional and immunologic protein S levels are decreased during pregnancy
14. Pregnancy and congenital deficiency in antithrombin III or protein C
15. Thrombosis and pregnancy in congenital deficiencies in antithrombin III, protein C or protein S: Study of 78 women
16. Development of resistance to activated protein C during pregnancy
17. Familial thrombophilia due to a previously unrecognised mechanism characterised by poor anticoagulant response to activated protein C. Prediction of a cofactor to activated protein C
18. Risk of venous thromboembolism in users of hormone replacement therapy
19. Thrombosis in antithrombin III deficient persons: Report of a large kindred and literature review
20. Spuriously low levels of protein C with a Protac activation clotting assay
21. Hyperhomocysteinaemia as a risk factor for deep vein thrombosis
22. Hyperhomocysteinaemia and venous thrombosis: A meta analysis
23. Laboratory diagnosis of APC resistance. A critical evaluation of the tests and the development of diagnostic criteria
24. Thrombosis during pregnancy and surgery in patients with congenital deficiency of antithrombin III, protein C, protein S
25. Low risk of recurrent thromboembolism in pregnancy
26. A reduced sensitivity for activated protein C in the absence of FV Leiden increases the risk of venous thrombosis
27. The factor V Leiden mutation may predispose women to severe pre eclampsia
28. Interaction of coagulation defects and cardiovascular risk factors increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A
29. Antithrombin, protein C. and protein S levels in 127 consecutive young adults with ischemic stroke
30. The risk of recurrence of venous thromboembolism in patients with and without FV Leiden
31. The risk of early recurrent venous thromboembolism after oral anticoagulant therapy in patients with the G20210A transition in the prothrombin gene
32. Reduction of vertebral fracture risk in post menopausal women with osteoporosis treated with raloxifene; results from a 3 year randomized clinical trial
33. Resistance to activated protein C in 9 thrombophilic families. Interference in a protein S functional assay
34. Resistance to activated protein C mimicking dysfunctional protein C: A diagnostic approach
35. Free protein S deficiency is a risk factor for venous thrombosis
36. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden)
37. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: Review of 404 cases
38. Frequency of pregnancy related venous thromboembolism in anticoagulant factor deficient women: Implications for prophylaxis
39. The risk of venous thromboembolism from air travel. The evidence is only circumstantial
40. Factor V. Leiden is associated with repeated and recurrent fetal loss
41. Laboratory testing for heritable thrombophilia: Impact on clinical management of thrombotic disease
42. Guidelines on the investigation and management of antiphospholipid syndrome
43. Practical strategies for hormone replacement therapy and risk of venous thromboembolism
44. Anticoagulant protein C pathway defective in a majority of thrombophilic patients
45. Prospective study of exogenous hormones and risk of pulmonary embolism in women
46. Hormone replacement therapy and risk of venous thromboembolism: Population based case control study
47. Familial dysfibrinogenaemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen
48. Deficiencies of coagulation inhibiting and fibrinolytic proteins in outpatients with deep vein thrombosis
49. Pregnancy in women with congenital antithrombin III deficiency. Experience of treatment with heparin and antithrombin
50. Resistance to activated protein C is a basis for venous thromboembolism associated with pregnancy and oral contraceptives
51. Congenital antithrombin III deficiency: Incidence and clinical features
52. Increased risk of recurrent venous thromboembolism during hormone replacement therapy. Results of the randomized double blind, placebo controlled estrogen in venous thromboembolism trial (EVTET)
53. Low molecular weight heparin: Biochemistry, pharmacology, peri operative prophylaxis regimens and guidelines for regional anaesthetic management
54. Pregnancy in women with thrombophilia: Incidence of thrombosis and pregnancy outcome
55. The risk of antenatal subcutaneous heparin prophylaxis: A controlled trial
56. Risk of hospital admission for idiopathic venous thromboembolism amongst users of postmenopausal oestrogens
57. Modified test for activated protein C resistance
58. A comparison of three months anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism
59. The therapeutic range for heparin therapy: Relationship between six activated partial thromboplastin time reagents and two heparin assays
60. Wide variability in the sensitivity of APTT reagents for monitoring heparin dosage
61. FV Leiden: An additional risk factor for thrombosis in protein S deficient families?
62. Venous thrombosis due to a poor anticoagulant response to activated protein C. Leiden Thrombophilia Study
63. Protein C deficiency in a controlled series of unselected out-patients. An infrequent but clear risk factor for venous thrombosis, Leiden Thrombophilia Study
64. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep vein thrombosis
65. Prenatal diagnosis in combined antithrombin and FV mutation
66. Apparent different thrombotic tendency in patients with factor V Leiden and protein C deficiency due to selection of patients
67. The risk of recurrent venous thromboembolism in carriers and non carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene
68. Risk of stroke in young women and two prothrombotic mutations: Factor V Leiden and prothrombin gene variant (G20210A)
69. Activated protein C resistance and the FV: R506Q mutation in a random population sample
70. Thrombotic variables and risk of idiopathic venous thromboembolism in women aged 45-64 years
71. Familial thrombophilia: Genetic risk factors and management
72. Changes in the plasma levels of vitamin K dependent protein C and S and of C4B binding protein during pregnancy and oral contraception
73. Heparin induced clearance in circulating antithrombin III
74. Laboratory evaluation and clinical characterisation of 2132 consecutive unselected patients with venous thromboembolism - Results of the Spanish multicentre study on thrombophilia (EMET-Study)
75. Activated protein C sensitivity ratio in pregnant women at delivery
76. Risk factors for pregnancy associated venous thromboembolism
77. Absence of thrombosis in subjects with heterozygous protein C deficiency
78. A. homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal purpura fulminans: Prenatal diagnosis in an at risk pregnancy
79. Coagulation disorders in young adults with acute cerebral ischaemia
80. Resistance to activated protein C in healthy women taking oral contraceptives
81. Laboratory monitoring of unfractionated heparin therapy. College of American Pathologists Conference XXXI on Laboratory Monitoring of Anticoagulant Therapy
82. Thrombotic risk in hereditary antithrombin III, protein C and protein S deficiency. A cooperative retrospective study
83. Bleeding complications of oral anticoagulant treatment. An inception cohort, prospective collaborative study (ISCOAT). Italian Study on Complications of Oral Anticoagulant Therapy
84. 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
85. Risk of cardiovascular diseases associated with oral progestagen preparations with therapeutic indications
86. The long-term clinical course of acute deep venous thrombosis
87. Increased fetal loss in women with heritable thrombophilia. European prospective cohort on thrombophilia (EPCOT)
88. A UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing for the diagnosis of familial thrombophilia
89. World distribution of FV Leiden
90. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke and venous thrombosis in apparently healthy men
91. Factor V Leiden and risks of recurrent idiopathic venous thromboembolism
92. Ethnic distribution of FV Leiden in 4047 men and women
93. Probability of recurrence of thrombosis in patients with and without FV Leiden
94. The epidemiology of inherited thrombophilia; the VITA project Vicenza Thrombophilia and Atherosclerosis Project
95. Activated protein C resistance and FV Leiden mutation are independent risk factors for venous thromboembolism
96. Oral contraceptives and screening for factor V Leiden
97. Risk factors for venous thrombotic disease
98. High risk of thrombosis in patients homozygous for FV Leiden (activated protein C resistance)
99. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women
100. Safety of low molecular weight heparin in pregnancy: A systematic review
101. Treatment of venous thromboembolism in patients with congenital deficiency of antithrombin III
102. Spurious protein C deficiency due to antiphospholipid antibodies
103. Hyperhomocysteinaemia and deep vein thrombosis. A case control study
104. The risk of venous thromboembolism in patients with an Arg506->Gln mutation in the gene for FV (FV Leiden)
105. Genetic and phenotypic analysis of a large (122 member) protein S deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes
106. The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population
107. Evaluation of original and modified APC resistance tests in unselected out-patients with clinically suspected thrombosis and in healthy controls
108. Influence of demographic factors on antithrombin activity in a healthy population
109. Protein C activity in healthy volunteers - Influence of age, sex, smoking and oral contraceptives
110. Prevalence of antithrombin deficiency in the healthy population
111. Prevalence of protein C deficiency in the healthy population
112. Recurrent thromboembolism in pregnancy and puerperium: Is there a need for thromboprophylaxis?
113. Antithrombin III deficiency and thromboembolism
114. Screening for the FV: Q506 mutation. Evaluation of 13 plasma-based methods for their diagnostic efficacy in comparison with DNA analysis
115. Standardisation of the APC resistance test. Effects of normalisation of results by means of pooled plasma
116. The Modified APC resistance assay for patients on oral anticoagulants
117. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency
118. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency
119. Recurrence of venous thromboembolism in patients with familial thrombophilia
120. Increased risk of venous thrombosis in oral contraceptive users who are carriers of the FV Leiden mutation
121. Factor V Leiden: Should we screen oral contraceptive users and pregnant women?
122. Risk of idiopathic venous thromboembolism in users of progestogens alone
123. FV Cambridge: A new mutation (ARG306-THR) associated with the resistance to activated protein C
124. Evaluation of the relationship between protein S and C4B binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genotype
125. Identification of the same FV gene mutation in 47 out of 50 thrombosis prone families with inherited resistance to activated protein C
126. Resistance to activated protein C is an additional genetic risk factor in hereditary deficiency of protein S