Mutations in the genes coding for the proteins involved in blood coagulation may result
in a bleeding tendency (haemophilia) or in a thrombotic tendency (thrombophilia).
Diagnosis and treatment of the haemophilias have been studied extensively in the past.
In general, it concerns monogenetic diseases where the absence of or the defect in
a single clotting factor is the cause of the clinical phenotype. Inheritance can be
autosomal dominant (e.g. von Willebrand disease), X-linked recessive (haemophilia
A and B) or autosomal recessive, (e.g. deficiency of factors II, V, VII, X, XI). A
systemic study of familial thrombophilia has started only in the seventies, although
thrombophilic families had been reported in the literature since the beginning of
the 20th century. Phenotypically, the disease seems to be autosomal dominant. This
is easily explained by recent findings which support the hypothesis that in contrast
to the genetic bleeding disorders, familial thrombophilia is an oligogenetic disorder
[
[1]
].To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to European Journal of Obstetrics and Gynecology and Reproductive BiologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Thrombophilia as a multigenic disorder.Thromb. Haemost. 1997; 78: 297-301
- Factor V Leiden and other coagulation risk factor mutations affecting thrombotic risk.Clin. Chem. 1997; 43: 1678-1683
- Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study).Blood. 1995; 85: 2756-2761
- High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance).Blood. 1995; 85: 1504-1508
- A common genetic variation in the 3′ untranslated region of the prothrombin gene is associated with elevated prothrombin levels and an increase in venous thrombosis.Blood. 1996; 88: 3698-3703
- Role of clotting factor VIII in effect of von Willebrand factor on occurence of deep-vein thrombosis.Lancet. 1995; 345: 152-155
- Venous thromboembolic disease and ABO blood type.Lancet. 1969; i: 539-542
- Inherited antithrombin III deficiency causing thrombophilia.Thromb. Diath. Haemorrh. 1965; 13: 516-530
- Antithrombin mutation database: first update.Thromb. Haemost. 1993; 70: 361-369
- Antithrombin and its inherited deficiency states.Semin Hematol. 1997; 34: 188-204
- The protein C anticoagulant system: inherited resistance to activated protein C as basis for venous thrombosis.Thromb. Res. 1995; 77: 1-43
- Deficiency of protein C in congenital thrombotic disease.J. Clin. Invest. 1981; 68: 1370-1373
- Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect.Lancet. 1993; 341: 134-138
- Protein C deficiency a database of mutations. 1995 Update.Thromb. Haemost. 1995; 89: 876-889
- Familial protein S deficiency is associated with recurrent thrombosis.J. Clin. Invest. 1984; 74: 2082-2088
- Hereditary protein S deficiency: clinical manifestations.Ann. Int. Med. 1987; 106: 677-682
- Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C.Proc. Natl. Acad. Sci. U.S.A. 1993; 90: 1004-1008
- Mutation in blood coagulation factor V associated with resistance to activated protein C.Nature. 1994; 369: 64-67
- Hyperhomocysteinemia as a risk factor for deep-vein thrombosis.N. Engl. J. Med. 1996; 334: 759-762
- A candidate genetic risk factor for vascular disease: a common mutation in methylene tetrahydrofolate reductase.Nat. Genet. 1995; 10: 111-113
- Absence of thrombosis in subjects with heterozygous protein C deficiency.N. Engl. J. Med. 1987; 317: 991-996
- Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families.Blood. 1994; 84: 1031-1035
- Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S.Blood. 1995; 85: 3518-3523
- The prothrombin 20210G to A variation and thrombosis.Curr. Opin. Hematol. 1998; 5: 338-342
- Increased risk of venous thrombosis in oral contraceptive users who are carriers of factor V Leiden mutation.Lancet. 1994; 344: 1453-1457
- 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: 1793-1797
- Factor V gene mutation is a risk factor for cerebral venous thrombosis.Thromb. Haemost. 1996; 75: 393-394
- Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium.N. Engl. J. Med. 2000; 342: 374-380
- Resistance to activated protein C as a basis for venous thromboembolism associated with pregnancy and oral anti contraceptives.Am. J. Obstet. Gynecol. 1995; 173: 210-213
- The incidence of the factor V Leiden mutation in an obstetric population and its relationship to deep vein thrombosis.Am. J. Obstet. Gynecol. 1997; 176: 883-886
- Genetic susceptibility to pregnancy-related venous thromboembolism: roles of factor V Leiden, prothrombin G 20210 A and methylene tetrahydrofolate reductase C677T mutation.Am. J. Obstet. Gynecol. 1998; 179: 1324-1328
- Risk factors for pregnancy associated venous thromboembolism.Thromb. Haemost. 1997; 78: 1183-1188
- Prospective evaluation of the risk conferred by factor V Leiden and thermolabile methylene-tetrahydrofolate reductase polymorphisms in pregnancy.Arterioscler. Thromb. Vasc. Biol. 2000; 20: 266-270
- Increased frequency of genetic thrombophilia in women with complications of pregnancy.N. Engl. J. Med. 1999; 340: 9-13
- Venous thrombosis: a multicausal disease.Lancet. 1999; 353: 1167-1173
Article info
Identification
Copyright
© 2001 Elsevier Science Ireland Ltd. Published by Elsevier Inc. All rights reserved.
