Clinical and Applied Thrombosis-hemostasis, 2011
View PDFchevron_rightHeritability of elevated factor VIII antigen levels in factor V Leiden families with thrombophiliaJeroen EikenboomBritish Journal of Haematology, 2000
View PDFchevron_rightHigh factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII geneJeroen EikenboomBritish Journal of Haematology, 2001
View PDFchevron_rightFamilial Elevated Factor VIII in Children With Symptomatic Venous Thrombosis and Post-Thrombotic Syndrome: Results of a Multicenter StudyMonika StollArteriosclerosis, Thrombosis, and Vascular Biology, 2006
View PDFchevron_rightThe paradoxical association between inherited factor VII deficiency and venous thrombosisJ. SchvedHaemophilia, 2008
View PDFchevron_rightThrombophilic families with inheritably associated high levels of coagulation factors VIII, IX and XIMichel DauzatJournal of Thrombosis and Haemostasis, 2003
View PDFchevron_rightHigh factor VIII levels and arterial thrombosis: illustrative case and literature reviewRuth StuckeyTherapeutic Advances in Hematology
Thrombotic disorders are one of the most common causes of morbidity and mortality in developing and developed countries. Several well-known genetic traits underlie predisposition to venous thrombosis. In particular, high factor VIII levels are a risk factor for venous thrombosis and coronary artery disease (CAD). However, similar insight into the genetic component of arterial thrombosis predisposition has not materialized fully, despite considerable effort. The authors present an illustrative case of a 32-year-old Saudi Arabian patient with peripheral arterial thrombosis whose only identifiable risk factor were high factor VIII levels. We also provide a comprehensive review of the current state of knowledge concerning the role of high factor VIII levels in determining the risk of arterial thrombosis or ischemic heart disease (IHD). We conclude that high factor VIII levels are a risk factor for thrombosis, with a greater impact on venous than on arterial thrombosis. However, due to a...
View PDFchevron_rightMutations at the activated protein C cleavage sites Arg336 and Arg562 of factor VIII in Thai patients with venous thrombosisPasra ArnuttiThe Southeast Asian journal of tropical medicine and public health, 2001
Venous thrombosis is a multicausal disease, more than one genetic risk factor may cooperate to effect thrombotic risk. Factor V Leiden is found to be an important hereditary risk factor for venous thromboembolism. Analogous to factor V Leiden, a point mutation at amino acid positions Arg336 and Arg562 in factor VIII may predispose patients to thrombosis. Eighty-one Thai patients with venous thrombosis and 100 Thai healthy volunteers have been studied. Neither heterozygous nor homozygous mutations were detected both thrombosis patients or normal volunteers. However, further studies with larger samples of venous thrombosis patients are recommended.
View PDFchevron_rightCoinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutationFRANCESCO BERNARDIBlood, 2003
We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype in severe factor VII (FVII) deficiency. Among 7 patients homozygous for a cross-reacting material-negative (CRM-) FVII defect (9726+5G>A, FVII Lazio), the only asymptomatic individual carried FV Leiden. Differential modulation of FVII levels by intragenic polymorphisms was excluded by a FVII to factor X (FX) gene haplotype analysis. The coagulation efficiency in the FV Leiden carrier and a noncarrier was evaluated by measuring FXa, FVa, and thrombin generation after extrinsic activation of plasma in the absence and presence of activated protein C (APC). In both patients coagulation factor activation was much slower and resulted in significantly lower amounts of FXa and thrombin than in a normal control. However, more FXa and thrombin were formed in the plasma of the patient carrying FV Leiden than in the noncarrier, especially in the presence of APC. These results were confirmed in...
View PDFchevron_rightA SEQUENCE VARIATION SCAN OF THE COAGULATION FACTOR (F)VIII STRUCTURAL GENE AND ASSOCIATIONS WITH PLASMA FVIII ACTIVITY (FVIII:C) LEVELSTom HowardView PDFchevron_right