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Thrombophilia
Kinds of Thrombophilia Terms modified by Thrombophilia Selected AbstractsThrombophilia and location of venous thromboembolismJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 10 2007S. SCHULMAN No abstract is available for this article. [source] Thrombophilia and pregnancy outcomesJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2005I. PABINGER Summary., Pregnancy complications are still a challenge for physicians, because knowledge of pathomechanisms and prophylactic measures is still limited. In recent years thrombophilia as a risk factor for pregnancy complications has gained much attention in the scientific community. However, data on this topic in the literature are conflicting. Besides an established association between antiphospholipid antibodies and pregnancy loss, available data suggest additional associations for antithrombin deficiency, hyperhomocysteinemia and also for factor (F)V Leiden, prothrombin G20210A variation, and protein S-deficiency. The contribution of thrombophilia to the risk of pre-eclampsia is less well established and recent studies did not confirm earlier data suggesting an association between thrombophilia and pre-eclampsia. A limited number of prospective studies have failed to reveal an increased risk of pregnancy complications in unselected women with thrombosis risk factors. Low-molecular weight heparin (LMWH) seems to have a positive effect on pregnancy outcome after single or recurrent abortions, however, data from only one controlled trial are available. Experience in the prevention of pre-eclampsia by prophylactic heparin is very limited, and in addition, data on pregnancy complications in women with known heritable thrombophilia or a history of thrombosis are inconsistent. These women will usually have a favorable pregnancy outcome referring to the European Prospective Cohort on Thrombophilia Study. In conclusion, thrombophilia screening might be justified in women with pregnancy loss and treatment with LMWH might be considered in those with pregnancy loss and thrombophilia. Further prospective studies and controlled interventional trials are urgently needed. [source] SHORT COMMUNICATION: Comparison of Serum Markers for Thrombophilia and Autoimmune Disease in Reproductive Age Women with and without False Positive Rapid Plasma Reagin TestsAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 2 2009Yael Swica Problem, The rapid plasma reagin test (RPR) is performed frequently in clinical practice, particularly among reproductive age women. The phenomenon of the biologic false positive RPR is well-recognized, but its clinical significance is poorly characterized. Our objective was to assess the relationship between the false positive RPR and several established clinical and biological markers for thrombophilia and/or autoimmune disease. Method of study, We conducted a clinic-based, case,control study of 41 healthy, reproductive age women with history of a biologic false positive RPR and 30 control women with a negative RPR to assess the relationship between the false positive RPR and several established clinical and biological markers for thrombophilia and/or autoimmune disease. We used t -tests and constructed frequency tables for case,control comparisons. Results, Cases were significantly more likely than controls to have lupus anticoagulant present in serum, have a positive ANA, and a positive ANA with a titer of 1:320 or greater. Cases were also more likely to be positive for anticardiolipin antibodies and have a prolonged activated partial thromboplastin time, but the CIs for those point estimates included the null value. Eight participants tested positive for both lupus anticoagulant and ANA. All eight were in the case group. Conclusion, These results suggest that the RPR test might be used to identify a subset of women who warrant further testing for autoimmune and/or thromboembolic disease. [source] ORIGINAL ARTICLE: The Association of Apoprotien E Polymorphisms with Recurrent Pregnancy LossAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 1 2009Chelsi Goodman Problem, We have previously reported the role of polymorphisms of thrombogenic genes involved in coagulation and fibrinolysis as risk factors for recurrent pregnancy loss. Thrombophilia has been viewed as a multigenic disorder rather than a monogenetic clinical phenotype and Apo E has been shown to play an important role in lipid metabolism in pregnancy. As individuals carrying the E4 allele of the ApoE gene have the highest risk for thrombosis, we evaluated the frequency of the Apo E4 genotype among women suffering from recurrent pregnancy loss. Method of study, Buccal swabs were obtained from 69 women with a history of two or more consecutive spontaneous abortions and 37 women with at least two live births and not more than one miscarriage. DNA was extracted from the buccal swabs and PCR amplification of Apo E2, E3, and E4 was performed. Results, Women experiencing recurrent pregnancy loss had a significantly higher prevalence of Apo E3/4, E4/4 genotypes (21.7%) compared with control women (5.4%) (P = 0.036). Conclusion, Apo E4 polymorphism may contribute to the thrombophilic risk factors contributing to recurrent pregnancy loss. [source] Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 4 2006Cyle S. Goodman Problem, Thrombophilia has been associated with poor obstetrical outcomes. To determine the association of specific inherited thrombophilias and recurrent pregnancy loss, 10 thrombophilic genes were investigated. Method of study, A total of 550 women with a history of recurrent pregnancy loss had buccal swabs taken for DNA analyses of the following gene mutations: factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, , -fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C. The frequencies of these mutations were compared with controls published in the literature. Results, When examined individually, PAI-1 4G/5G (P = 0.009), factor XIII V34L (P < 0.0001), and homozygous MTHFR C667T (P < 0.0001) correlated significantly with recurrent pregnancy loss compared with controls. The frequency of the factor V Y1702C mutation was extremely low in patients and controls; thus, this gene was removed from further calculations. The remaining six mutated genes, when analyzed cumulatively, also corresponded with recurrent pregnancy loss (P < 0.0001). Conclusion, A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, , -fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss. [source] Is thrombophilia a factor in the development of hemiplegic cerebral palsy?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2001Robert A Smith MD FRCP FRCPCH A population-based study of children with hemiplegic cerebral palsy (CP) was performed to investigate whether thrombophilic tendencies are implicated in the aetiology of the condition. Thirty-eight children (23 males, 15 females; mean age 8.7 years, SD 4.1 years) with hemiplegic CP were ascertained. Twenty-seven children(18 males, nine females; mean age 8.4 years, SD 4.3) gave consent for inclusion. The non-study group comprised five males and six females; mean age 9.4 years, SD 4.1. In six children, seven thrombophilic,abnormalities'were identified. Five of these abnormalities were of an equivocal nature and probably did not represent true clinical thrombophilia; reasons for this interpretation are discussed. Contrary to other published non-population-based studies, we have not shown an association between thrombophilia and hemiplegic CP. More studies, including maternal studies, are required to explore this complex subject further. [source] A fatal case of enoxaparin induced skin necrosis and thrombophiliaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2006Yona Nadir Abstract:, Skin necrosis caused by heparins is a rare complication. We report a case of a 71-yr-old white woman who developed painful diffuse skin lesions, most probably related to enoxaparin treatment. Other causes of skin necrosis, including heparin induced thrombocytopenia, disseminated intravascular coagulation, protein C/protein S deficiencies, anti-phospholipid antibodies, and vitamin K deficiency were less likely in this case. The concomitant combined thrombophilia possibly aggravated the patient's clinical presentation. [source] EFNS guideline on the treatment of cerebral venous and sinus thrombosisEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2006K. Einhäupl Cerebral venous and sinus thrombosis (CVST) is a rather rare disease which accounts for <1% of all strokes. Diagnosis is still frequently overlooked or delayed due to the wide spectrum of clinical symptoms and the often subacute or lingering onset. Current therapeutic measures which are used in clinical practice include the use of anticoagulants such as dose-adjusted intravenous heparin or body weight-adjusted subcutaneous low-molecular-weight heparin (LMWH), the use of thrombolysis, and symptomatic therapy including control of seizures and elevated intracranial pressure. We searched MEDLINE (National Library of Medicine), the Cochrane Central Register of Controlled Trials (CENTRAL) and the Cochrane Library to review the strength of evidence to support these interventions and the preparation of recommendations on the therapy of CVST based on the best available evidence. Review articles and book chapters were also included. Recommendations were reached by consensus. Where there was a lack of evidence, but consensus was clear we stated our opinion as good practice points. Patients with CVST without contraindications for anticoagulation should be treated either with body weight-adjusted subcutaneous LMWH or dose-adjusted intravenous heparin (good practice point). Concomitant intracranial haemorrhage related to CVST is not a contraindication for heparin therapy. The optimal duration of oral anticoagulation after the acute phase is unclear. Oral anticoagulation may be given for 3 months if CVST was secondary to a transient risk factor, for 6,12 months in patients with idiopathic CVST and in those with ,mild' hereditary thrombophilia. Indefinite anticoagulation (AC) should be considered in patients with two or more episodes of CVST and in those with one episode of CVST and ,severe' hereditary thrombophilia (good practice point). There is insufficient evidence to support the use of either systemic or local thrombolysis in patients with CVST. If patients deteriorate despite adequate anticoagulation and other causes of deterioration have been ruled out, thrombolysis may be a therapeutic option in selected cases, possibly in those without intracranial haemorrhage (good practice point). There are no controlled data about the risks and benefits of certain therapeutic measures to reduce an elevated intracranial pressure (with brain displacement) in patients with severe CVST. Antioedema treatment (including hyperventilation, osmotic diuretics and craniectomy) should be used as life saving interventions (good practice point). [source] Continuous infusion of factor concentrates in children with haemophilia A in comparison with bolus injectionsHAEMOPHILIA, Issue 3 2006C. BIDLINGMAIER Summary., Although the concept of continuous infusion (CI) of factor concentrates is well known, prospective paediatric data are rare. We present a prospective open-labelled non-randomized study focusing on safety, efficacy and factor VIII (FVIII) usage compared with bolus injections (BI) in children. In 43 consecutive patients (0.5,17 years; median: 9.6) undergoing different operations, CI was started with an initial FVIII-bolus of 70 IU kg,1 bodyweight, followed by a median infusion rate of 4.4 IU kg,1 h,1 (range: 2.8,9.5) dose adjusted for daily FVIII levels (target: 60,80%). No direct serious adverse events occurred; however, two out of 43 patients, both from the group of four patients with less than 20 exposure days (ED) before starting CI, developed a high-responding inhibitor. Two CI patients showed mild thrombophlebitis or rash. Infusion rates needed to achieve adequate FVIII levels were highly predictable and could be reduced because of decreasing FVIII clearance. Bleeding, requiring additional boli, was observed in eight out of 43 patients. Therapy duration and factor usage of CI were influenced by the procedure, but not by the product used or thrombophilia. Twelve of these CI patients were compared with 12 contemporary consecutive age- and procedure-matched BI patients. Compared with BI patients, CI patients saved 30% FVIII (812.9 vs. 563.2 IU kg,1, P < 0.006). We conclude that CI forms a safe and effective method for perioperative care in children and reduces factor usage. Because of the unknown risk of inhibitor development, we will use CI only in patients beyond 20 ED. [source] Haemophilia and thrombophilia: an unexpected association!HAEMOPHILIA, Issue 4 2004Y. Dargaud Summary., In patients with haemophilia, a close correlation is usually observed between the clinical expression of the disease and plasmatic factor VIII/factor IX clotting activity. However, some patients experience milder bleeding phenotypes than others, although they exhibit a similar biological profile. The high prevalence of some inherited thrombophilia risk factors offers the possibility of a co-inheritance in haemophilic patients which could influence the phenotypic expression of the disease. Rare thrombotic complications occurring in haemophiliacs could also be facilitated by the co-inheritance of modifier genes. The majority of thrombotic events occurring in haemophiliacs are in relation to clotting factor infusions or central venous catheters. Concerning surgical situations, in the absence of therapeutic recommendations, postoperative thromboprophylaxis is not systematically performed in haemophiliacs. However, substitutive treatment more or less completely corrects the coagulation defect and makes the venous thrombosis risk closer to the control population. It should be emphasized that haemophilia does not fully protect against venous thromboembolic disease. Patients with haemophilia very infrequently experience thrombotic events. Thus, the management of thrombotic complications occurring in haemophilic patients should be discussed in each case according to the precipitating risk factors, the clinical context and the thrombo-haemorrhagic balance of the patient with respect to a particular clinical situation. [source] Pediatrics Access Problems in hemodialysis with a permanent central venous catheterHEMODIALYSIS INTERNATIONAL, Issue 1 2005J. Muscheites Hemodialysis is a common treatment of chronic renal failure, also in childhood. Due to the high standard of technique there are only few contraindications for this treatment at present. Limitations are given by the vessel access. But in the last years, hemodialysis has been made practicable by the permanent central venous catheter, however, with more problems. As an example for potential complications in the treatment with the permanent catheter we present an unusual case report about a twenty-one- year-old girl suffering from chronic renal failure due to reflux nephropathy, Prader-Willi- syndrome, myelonatrophia of undetermined origin with spastic diplegia of the legs, and increasing sphincter ani dysfunction. We started the renal replacement therapy when the girl was 15 years old. It was not possible to create an AV fistula due to very small vessels. Two Gore-Tex ® implants were clotted in absence of thrombophilia. Afterwards, the hemodialysis was performed by a permanent central venous catheter. The catheter had to be changed 15 times. The reasons for changing the catheter were problems of flow during hemodialysis due to clotting, dislocations, spontaneous removing of the catheter by herself, and infections. Altogether a sepsis occurred four times. The first transplantation failed due to a rupture of the transplanted kidney. A second transplantation was not possible because of the high BMI. Intermittently, the girl was treated with peritoneal dialysis (PD) in the hospital, because the PD couldn't be done at home due to different reasons. Only on weekends could the girl go home. The PD had to be finished after 6 months due to a severe psychotic syndrome. The girl died at age 21, caused by a sepsis following the 15th change of the catheter. A huge problem of frequent catheter changing is the limited availability of vessel accesses , the limits of treatment by hemodialysis. [source] Stuttering priapism complicating Warfarin therapy in a patient with protein C deficiencyINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2008R. A. H. ABU SHAM'A Summary Priapism is a rare disorder defined as a persistent penile erection that continues hours beyond, or is unrelated to, sexual stimulation. There are two types of priapism; ischemic low-flow type or non-ischemic high flow, with differing etiologies. Priapism associated with thrombophilia is a well-recognized entity. However, the pathogenesis of this association is not fully understood. We report a rare case of recurrent (stuttering) priapism in a patient with protein C deficiency while maintained on Warfarin therapy. This therapy was also complicated by Warfarin-induced skin necrosis. [source] Laboratory findings associated with thrombophilia are not more common in inflammatory bowel diseaseINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2000K. K. Sundaram Summary Thromboembolic disease (TED) has been recognized as a complication of inflammatory bowel disease (IBD) since the 1930s ( Bargen & Barker 1936). The relative contributions of inherited or acquired thrombophilia and the inflammatory response to the mechanism of this tendency is unclear. Thrombotic events are more common in active disease although significant numbers also occur spontaneously, when the disease is in clinical remission ( Talbot et al. 1986 ; Jackson et al. 1997 ). Studies looking at the prevalence of specific thrombophilic states such as Antithrombin III deficiency ( Jackson et al. 1997 ; Lake, Stauffer & Stuart 1978; Cianco et al. 1996 ; Ghosh et al. 1983 ), Factor V Leiden mutation (APC Resistance) ( Jackson et al. 1997 ; Probert et al. 1997 ; Ardizzone et al. 1998 ; Liebman et al. 1998 ), anticardiolipin antibodies ( Ciancio et al. 1996 ), Protein C ( Wyshock, Caldwell & Crowley 1988; Korsten & Reis 1992) and Protein S deficiencies ( Jorens et al. 1990 ; Aadland et al. 1992 ) in IBD have been contradictory or equivocal. We had previously found that IBD patients with a history of TED are not more likely to have a laboratory thrombophilic abnormality than those with uncomplicated disease. We also demonstrated that the prevalence of heterogenous laboratory thrombophilic abnormalities (usually minor) in all IBD patients may be as high as 60%, much higher than the recognized prevalence of TED ( Lim, Jones & Gould 1996). We wondered how this would compare with the healthy non-IBD population. We have therefore explored the prevalence of such thrombophilic abnormalities in a group of IBD patients who had no history of TED and compared them with healthy age and sex matched controls. [source] The prevalence of the activating JAK2 tyrosine kinase mutation in chronic porto-splenomesenteric venous thrombosisALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 12 2010D. W. ORR Aliment Pharmacol Ther,31, 1330,1336 Summary Background, Occult myeloproliferative disorders (MPD) are present in 25% of patients with chronic portal, splenic and mesenteric venous thrombosis (PSMVT). A somatic mutation of JAK2 (JAK2V617F) can be used to identify patients with latent MPD. Aim, We evaluated the prevalence and clinical significance of JAK2V617F in patients with chronic PSMVT. Methods, Allele-specific polymerase chain reaction was performed to screen for JAK2V617F. Results, Thirty-five patients were tested for JAK2V617F. The underlying pro-coagulant condition was MPD in seven of 35 (20.0%) patients; other aetiologies included hereditary thrombophilia (n = 5), chronic pancreatitis (n = 2), liver abscess (n = 1) and umbilical vein sepsis (n = 3). The remainder were labelled idiopathic, i.e. 17/35 (48.6%) patients. JAK2V617F was detected in 16/35 (45.7%) patients: seven of seven (100%) with MPD, two of 11 (18.1%) with non-MPD acquired conditions and seven of 17 (41.2%) with ,idiopathic' chronic PSMVT. Mean haemoglobin concentration (P = 0.04), haematocrit (P = 0.04), white cell count (P = 0.002) and platelet count (P = 0.05) were significantly higher in patients with JAK2V617F. None of the seven patients with latent MPD have progressed to overt MPD over median follow-up of 85 months. Conclusion, JAK2V617F occurs in 41% of patients with idiopathic chronic portal, splenic and mesenteric venous thrombosis, confirming the presence of latent myeloproliferative disorders, and should form part of the routine pro-coagulant screen. [source] Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disordersJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 4 2007V. DE STEFANO Summary., Background:, Thrombosis of splanchnic or cerebral veins is a typical manifestation of polycythemia vera (PV) or essential thrombocythemia (ET). The recently identified Janus kinase 2 (JAK2) V617F somatic mutation is closely related to chronic myeloproliferative disorders (CMD). Objective:, To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD. Patients and methods:, We searched for the mutation in 139 adult patients (> 18 years old) with thrombosis of hepatic veins (HVT, n = 15), or extrahepatic portal vein (PVT) and/or mesenteric vein (MVT) (n = 79), or cerebral veins (CVT, n = 45). Only 19 patients fulfilled criteria for diagnosis of PV (n = 8) or ET (n = 11) at the time of thrombosis: four had HVT, 11 PVT and/or MVT, and four CVT. Results:, The JAK2 V617F mutation was found in 94.7% [95% CI 75.3,99.0] of the patients with overt CMD at the time of thrombosis, in 21.5% (95% CI 13.8,31.7) of the patients with abdominal venous thrombosis and without overt CMD, and in 4.8% (95% CI 1.3,16.1) of the patients with CVT and without overt CMD. Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8,46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4,63.4) with PVT had the JAK2 V617F mutation. Conclusions:, A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD. The clinical significance of such findings deserves further investigation. [source] Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophiliaJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 1 2007I. MARTINELLI Summary.,Background: Patients with factor (F) V Leiden or the prothrombin G20210A polymorphism are at increased risk of developing deep vein thrombosis (DVT). On the other hand, the risk of developing pulmonary embolism (PE) appears to be low in carriers of FV Leiden, perhaps because of a lower tendency to develop iliofemoral DVT than non-carriers. For prothrombin G20210A, data are scanty and controversial. Methods: The clinical manifestations (isolated DVT, DVT and PE, and isolated PE), the extension of DVT, and the presence of transient risk factors were retrospectively investigated in 115 patients with heterozygous FV Leiden, 87 with prothrombin G20210A and 200 with no thrombophilia marker. Results: Isolated symptomatic PE was less prevalent in patients with FV Leiden (6%) than in those with prothrombin G20210A (21%) and no thrombophilia (23%) (P > 0.0001). The rate of distal DVT was higher in patients with no thrombophilia (16% vs. 7% for FV Leiden and 6% for prothrombin G20210A) (P = 0.02). No difference in the incidence of PE from distal and proximal DVT, the extension of proximal DVT and the type of transient risk factors for venous thromboembolism (VTE) was found in the three groups. Patients with prothrombin G20210A had a younger age at their first VTE (24 years, P < 0.0001) and a higher rate of DVT accompanying PE (P = 0.04) than those with FV Leiden or no thrombophilia. Conclusions: Carriers of prothrombin G20210A, unlike those of FV Leiden, have an increased risk of developing isolated PE. This difference was not explained by a different rate of distal DVT, extension of proximal DVT, or distribution of transient risk factors in the two groups. Patients with prothrombin G20210A have more severe clinical manifestations than those with FV Leiden or no thrombophilia. [source] Family history and inherited thrombophiliaJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 10 2006G. L. VAN SLUIS Summary.,Background: It is a common belief that patients with venous thrombosis and a positive family history for venous thromboembolism (VTE) have an increased likelihood of having an inherited thrombophilic defect. Methods: We analyzed the relation between family history, qualified with three different methods, and thrombophilic status in 314 patients with proven VTE. A positive family history (one or more first-degree relatives with VTE) and a strongly positive family history (two or more first-degree relatives with VTE). In 118 of the patients a third, more precise method was analyzed: the family history score, which compares the observed and the expected number of first-degree family members with VTE. Results: Patients with a positive or strongly positive family history had a slightly increased chance of having inherited thrombophilia compared to those without a positive family history. For positive family history this was 42% vs. negative 32%, likelihood ratio 1.3 (95% confidence interval; CI 0.9,2.1) and for strongly positive family history this was 46% vs. negative 34%, likelihood ratio 1.6 (95% CI 0.7,3.3). The family history score correlated with the chance of having inherited thrombophilia [OR 1.23 per score point (95% CI 1.01,1.48)]. However, even with this method the chance of having inherited thrombophilia is lower than 50% in 97% of the cases. Conclusions: Family history of VTE is not a precise tool in clinical practice to identify patients with inherited thrombophilia among patients with VTE. The family history score is more precise, but probably only useful for research purposes and not for daily practice. [source] Thrombophilia and pregnancy outcomesJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2005I. PABINGER Summary., Pregnancy complications are still a challenge for physicians, because knowledge of pathomechanisms and prophylactic measures is still limited. In recent years thrombophilia as a risk factor for pregnancy complications has gained much attention in the scientific community. However, data on this topic in the literature are conflicting. Besides an established association between antiphospholipid antibodies and pregnancy loss, available data suggest additional associations for antithrombin deficiency, hyperhomocysteinemia and also for factor (F)V Leiden, prothrombin G20210A variation, and protein S-deficiency. The contribution of thrombophilia to the risk of pre-eclampsia is less well established and recent studies did not confirm earlier data suggesting an association between thrombophilia and pre-eclampsia. A limited number of prospective studies have failed to reveal an increased risk of pregnancy complications in unselected women with thrombosis risk factors. Low-molecular weight heparin (LMWH) seems to have a positive effect on pregnancy outcome after single or recurrent abortions, however, data from only one controlled trial are available. Experience in the prevention of pre-eclampsia by prophylactic heparin is very limited, and in addition, data on pregnancy complications in women with known heritable thrombophilia or a history of thrombosis are inconsistent. These women will usually have a favorable pregnancy outcome referring to the European Prospective Cohort on Thrombophilia Study. In conclusion, thrombophilia screening might be justified in women with pregnancy loss and treatment with LMWH might be considered in those with pregnancy loss and thrombophilia. Further prospective studies and controlled interventional trials are urgently needed. [source] Venous thromboembolism: disease burden, outcomes and risk factorsJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2005J. A. HEIT Summary., The epidemiology of venous thromboembolism (VTE) in the community has important implications for VTE prevention and management. This review describes the disease burden (incidence), outcomes (survival, recurrence and complications) and risk factors for deep vein thrombosis and pulmonary embolism occurring in the community. Recent comprehensive studies of the epidemiology of VTE that reported the racial demography and included the full spectrum of disease occurring within a well-defined geographic area over time, separated by event type, incident vs. recurrent event and level of diagnostic certainty, were reviewed. Studies of VTE outcomes had to include a relevant duration of follow-up. VTE incidence among whites of European origin exceeded 1 per 1000; the incidence among persons of African and Asian origin may be higher and lower, respectively. VTE incidence over recent time remains unchanged. Survival after VTE is worse than expected, especially for pulmonary embolism. Thirty percent of patients develop VTE recurrence and venous stasis syndrome. Exposures can identify populations at risk but have a low predictive value for the individual. An acquired or familial thrombophilia may predict the subset of exposed persons who actually develop symptomatic VTE. In conclusion, VTE is a common, lethal disease that recurs frequently and causes serious long-term complications. To improve survival and prevent complications, VTE occurrence must be reduced. Better individual risk stratification is needed in order to modify exposures and target primary and secondary prophylaxis to the person who would benefit most. [source] More on: asymptomatic thrombophilia,a family affairJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 6 2005G. PERNOD No abstract is available for this article. [source] Asymptomatic thrombophilia,a family affairJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 3 2005F. A. SPENCER [source] Should we screen Eastern Mediterranean sickle beta-thalassemia patients for inherited thrombophilia?JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 3 2005Z. K. OTROCK [source] Screening for thrombophilia in children: a puzzling decision with unclear implicationsJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 7 2004D. Tormene No abstract is available for this article. [source] Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691AJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 3 2004S. Ehrenforth Summary.,Background:,Limited data exist on the clinical manifestations of homozygous factor (F)V:G1691A mutation (FV Leiden) and the impact of environmental and genetic risk factors. Objectives:,To assess the contribution of these factors on the thrombophilic phenotype. Patients and methods:,In a retrospective multicenter cohort study 165 individuals with homozygous FV:G1691A mutation, of whom 129 had previous venous thromboembolism (VTE), were included. To study the role of environmental risk factors, patients were compared by the use of a standardized questionnaire to 165 sex- and age-matched individuals (reference group A); of these, two had previous VTE. To assess the role of genetic risk factors, factor (F)II:G20210A and MTHFR:C677T were determined in individuals homozygous for FV:G1691A and in 177 healthy individuals without previous VTE (reference group B). Results:,The first VTE occurred significantly earlier in women (median age 25 years) than men (35.5 years). In 81% of women and 29% of men an environmental risk factor was present before first VTE. Oral contraceptives increased the risk of thrombosis 4-fold [odds ratio (OR) 4.0, 95% confidence interval (CI) 1.7, 10.4] in women with homozygous FV:G1691A. Postoperative and post-traumatic VTE as first manifestation occurred in 13% and 15% of surgical/traumatic events in patients and in 0.7% and 1.8% in reference group A, respectively (OR 19.7, 95% CI 2.5, 154 and OR 9.2, 95% CI 1.1, 79.4). Heterozygous FII:G20210A was more prevalent in symptomatic patients (11.7%) compared with reference group B (2.8%, OR 4.6, 95% CI 1.6, 13.2). The prevalence of homozygous MTHFR:C677T genotype was similar in patients and reference group B. Conclusions:,Our study supports the concept of thrombophilia as a multifactorial disorder. The knowledge of coexisting factors predisposing to VTE is useful for medical advice for primary and secondary prophylaxis in these patients. [source] Geography too determines the causes of inherited thrombophiliaJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 2 2004K. Ghosh No abstract is available for this article. [source] Individualized duration of oral anticoagulant therapy for deep vein thrombosis based on a decision modelJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 12 2003R. Vink Summary.,Background:,The optimal duration of oral anticoagulant therapy for patients with a first episode of deep vein thrombosis (DVT) is still a matter of debate. However, according to the ACCP consensus strategy a limited stratification in treatment duration is advocated, i.e. 3 months for patients with a transient risk factor and 1 year or longer for patients with recurrent disease or a consistent risk factor such as thrombophilia or cancer. This consensus strategy is founded on the mean optimal duration of therapy obtained in large cohorts of patients and is mainly based on the risk of recurrent venous thromboembolism (VTE), with only minimal consideration for the patient's bleeding risk. Objective:,The aim of this study is to optimize the anticoagulant treatment strategy with vitamin K antagonists for the individual patient with DVT. Methods:,Based on an extensive literature study, a mathematical model was constructed to balance the risk of recurrent VTE against the risk of major hemorrhagic complications. The following parameters are incorporated in the model: baseline estimates and risk factors for recurrent VTE and bleeding, clinical course of DVT, and efficacy of treatment with vitamin K antagonists. With the use of these parameters, the risk for a recurrent VTE and a bleeding episode can be calculated for the individual patient. The optimal duration of anticoagulant therapy can be defined as the timepoint at which the benefit of treatment (prevention of VTE) is counterbalanced by its risk (bleeding). Results/conclusions:,How long a patient should receive anticoagulant treatment is a matter of balancing the benefits and risks of treatment. The model shows that the optimal treatment duration varies greatly from patient to patient according to the patient's unique bleeding and recurrence risk. [source] Incidence of cancer after a first episode of idiopathic venous thromboembolism treated with 3 months or 1 year of oral anticoagulationJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2003M. R. Taliani Summary.,Background:,A prolonged treatment with oral anticoagulants has been claimed to reduce the incidence of newly diagnosed cancer in the long-term follow-up of patients with venous thromboembolism. Objectives:,In a multicenter prospective study we assessed the incidence of newly diagnosed clinically overt cancer in patients with a first episode of idiopathic venous thromboembolism (VTE) treated with oral anticoagulants for 3 months or 1 year. Patients and methods:,Consecutive patients with an idiopathic venous thromboembolism who had completed 3 months of oral anticoagulant therapy without having a recurrence, bleeding or newly diagnosed cancer were randomized to discontinue oral anticoagulant therapy or to continue it for nine additional months. Idiopathic venous thromboembolism was defined as thrombosis occurring in the absence of known cancer, known thrombophilia, or temporary risk factors for venous thromboembolism. All patients were followed up for at least 1 year after randomization. Results:,A total of 429 patients, 265 patients with DVT and 164 with PE, were followed up for an average of 43.7 months after randomization. A newly diagnosed cancer occurred in 32 patients (7.5%), 13 (6.2%) of the 210 patients treated for 3 months and 19 (8.7%) of the 219 patients treated for 1 year (RR = 0.71, 95% confidence interval 0.36,1.41). Conclusions:,The incidence of newly diagnosed clinically overt cancer is not reduced in patients with idiopathic venous thromboembolism treated with 1-year anticoagulant treatment compared with patients treated for 3 months. [source] Comparison of characteristics from White- and Black-Americans with venous thromboembolism: A cross-sectional study,,AMERICAN JOURNAL OF HEMATOLOGY, Issue 7 2010John A. Heit When compared with Whites, Black-Americans may have a 40% higher incidence venous thromboembolism (VTE) incidence. However, whether other VTE characteristics and risk factors vary by race is uncertain. To compare demographic and baseline characteristics among White- and Black-Americans with VTE, we used data prospectively collected from consecutive consenting adults enrolled in seven Centers for Disease Control (CDC) Thrombosis and Hemostasis Centers from August 2003 to March 2009. These characteristics were compared among Whites (n = 2002) and Blacks (n = 395) with objectively diagnosed VTE, both overall, and by age and gender. When compared with Whites, Blacks had a significantly higher proportion with pulmonary embolism (PE), including idiopathic PE among Black women, and a significantly higher proportion of Blacks were women. Blacks had a significantly higher mean BMI and a significantly lower proportion with recent surgery, trauma or infection, family history of VTE, and documented thrombophilia (solely from reduced factor V Leiden and prothrombin G20210A prevalence). Conversely, Blacks had a significantly higher proportion with hypertension, diabetes mellitus, chronic renal disease and dialysis, HIV, and sickle cell disease. When compared with White women, Black women had a significantly lower proportion with recent oral contraceptive use or hormone therapy. We conclude that Whites and Blacks differ significantly regarding demographic and baseline characteristics that may be risk factors for VTE. The prevalence of transient VTE risk factors and idiopathic VTE among Blacks appears to be lower and higher, respectively, suggesting that heritability may be important in the etiology of VTE among Black-Americans. Am. J. Hematol. 85:467,471, 2010 © 2010 Wiley-Liss, Inc. [source] Factor V Leiden mutation carriership and venous thromboembolism in polycythemia vera and essential thrombocythemiaAMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2002Marco Ruggeri Abstract Polycythemia Vera (PV) and Essential Thrombocythemia (ET) are chronic myeloproliferative disorders complicated by a high incidence of thrombotic complications. Extensive coagulation studies failed to demonstrate a consistent pattern of abnormalities associated with thrombosis. Recently, a poor anticoagulant response to activated protein C (APC), due to a mutation of factor V (FV Leiden), has been identified as the most frequent hereditary disorder associated with venous thrombophilia. We investigated in 304 patients with PV and ET whether the presence of FV Leiden could be a risk factor for thrombosis. FV Leiden was found in 14/304 patients (4.6%) and was associated with venous thromboembolism (VTE) occurred before and at diagnosis (5/27,16%, with a significant difference of prevalence in comparison of that observed in asymptomatic patients, 9/263, 3%, p = 0.003). Carriership of FV Leiden was associated with VTE relapse, with a prevalence of 3.6% in asymptomatic patients, 6.9% in patients with a single episode of VTE and 18.1% in patients with recurrent VTE. The prevalence of FV Leiden in patients with and without arterial thrombosis was similar (5/79, 6% and 9/211, 4%, respectively, p = 0.337). This study indicates that the prevalence of the FV Leiden mutation in patients with PV and ET is comparable with that observed in the general population. FV Leiden mutation is a risk factor for VTE before and at time of diagnosis and for VTE recurrences. Screening for FV Leiden may be considered to identify PV and ET patients at higher risk of recurrences. Am. J. Hematol. 71:1,6, 2002. © 2002 Wiley-Liss, Inc. [source] ORIGINAL ARTICLE: Investigating Association of Three Polymorphisms of Coagulation Factor XIII and Recurrent Pregnancy LossAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 3 2010Mahmood Jeddi-Tehrani Citation Jeddi-Tehrani M, Torabi R, Mohammadzadeh A, Arefi S, Keramatipour M, Zeraati H, Zarnani AH, Akhondi MM, Mahmoudian J, Mahmoudi AR, Zarei S. Investigating association of three polymorphisms of coagulation factor XIII and recurrent pregnancy loss. Am J Reprod Immunol 2010; 64: 212,217 Problem, Among important suspected causes of thrombophilia in women with recurrent pregnancy loss (RPL) are the polymorphisms of coagulation factor XIII (FXIII) gene. We performed a case,control study on the association between three polymorphisms of factor XIII (FXIII G103T, FXIII A614T and FXIII C1694T) and RPL in Iranian women. Method of study, DNA samples from peripheral blood of 100 female patients with at least two recurrent abortions, as case group, and 100 healthy women with history of at least two successful deliveries were subjected to PCR-RFLP, and the frequencies of the polymorphisms were calculated and compared between the two groups. Results, The prevalence of FXIII G103T polymorphism was 29% in the case group and 17% in the control group (P = 0.158). The frequencies of FXIII A614T and FXIII C1694T were 84% and 66% in the case group and 48% and 31% in the control group (P < 0.001 and P < 0.001), respectively. The two latter polymorphisms are associated with RPL in Iranian women and increase the risk of RPL. A correlation was also found between FXIII A614T and FXIII C1694T polymorphisms (P < 0.001). Conclusion, We suggest the evaluation of FXIII A614T and FXIII C1694T polymorphisms in women with RPL. [source] | ||||||||||||||||||||||