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Pier Mannuccio Mannucci - One of the best experts on this subject based on the ideXlab platform.
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the risk of first venous thromboembolism during pregnancy and puerperium in double heterozygotes for factor v leiden and Prothrombin G20210A
Journal of Thrombosis and Haemostasis, 2008Co-Authors: Ida Martinelli, Tullia Battaglioli, Lelia Valdre, Elvira Grandone, Alberto Tosetto, Daniela Tormene, Valerio De Stefano, Pier Mannuccio MannucciAbstract:BACKGROUND: The risk of venous thromboembolism (VTE) during pregnancy in double heterozygous carriers of factor (F) V Leiden and Prothrombin G20210A is not established. Hence, whether or not these women deserve antithrombotic prophylaxis when pregnant is unknown. PATIENTS AND METHODS: In the frame of a multicenter family study, 52 double heterozygous carriers of FV Leiden and Prothrombin G20210A who had remained pregnant at least once before knowledge of thrombophilia, were retrospectively investigated with respect to the occurrence of first VTE during pregnancy and puerperium. They were compared with 104 heterozygous carriers of FV Leiden, 104 of Prothrombin G20210A and 104 women without thrombophilia. RESULTS: Double heterozygotes were similar to single heterozygous carriers and non-carriers for the age at first pregnancy, age at testing and rate of full-term pregnancies. No VTE during pregnancy was observed in the four groups of women, whereas in the puerperium it occurred in two double carriers (1.8% of pregnancies, 95% CI: 0.5-6.3), three single FV Leiden carriers (1.5%, 0.5-4.3), two single Prothrombin G20210A carriers (1%, 0.2-3.6) and one non-carrier (0.4%, 0-2.5). CONCLUSIONS: The risk of first VTE during pregnancy and puerperium in double heterozygous carriers of FV Leiden and Prothrombin G20210A is low and similar to that of single carriers. As for single heterozygotes, antithrombotic prophylaxis in asymptomatic double heterozygous carriers appears to be justified only in puerperium.
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type and location of venous thromboembolism in patients with factor v leiden or Prothrombin G20210A and in those with no thrombophilia
Journal of Thrombosis and Haemostasis, 2007Co-Authors: Ida Martinelli, Tullia Battaglioli, Cristina Razzari, Pier Mannuccio MannucciAbstract: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.
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risk factors for thrombophilia in extrahepatic portal vein obstruction
Hepatology, 2005Co-Authors: Massimo Primignani, Tullia Battaglioli, Ida Martinelli, Paolo Bucciarelli, R Reati, Federica Fabris, A Dellera, Emanuela Pappalardo, Pier Mannuccio MannucciAbstract:Scant information exists on the role of thrombophilia in extrahepatic portal vein obstruction (EHPVO). We studied 65 patients with EHPVO, 500 with deep vein thrombosis (DVT) of the lower limbs, and 700 healthy controls referred for thrombophilia screening, including the search for gain-of-function mutations in genes encoding coagulation factor V (factor V Leiden) and Prothrombin (Prothrombin G20210A); antithrombin, protein C, and protein S deficiency; and hyperhomocysteinemia. At least one abnormality in the thrombophilia screening was found in 40% of patients with either EHPVO or lower limb DVT and in 13% of controls, for odds ratios of 4.0 (95% CI, 2.3-7.0) and 4.4 (95% CI, 3.3-5.9), respectively. Statistically significant associations with EHPVO were observed for the Prothrombin G20210A mutation (odds ratio, 8.1; 95% CI, 3.8-17.5) and the deficiencies of antithrombin, protein C, or protein S taken together (odds ratio, 4.5; 95% CI, 1.1-18.0). The odds ratio for the Prothrombin G20210A was approximately twice that for lower limb DVT. Patients with factor V Leiden had an odds ratio for EHPVO of 0.8 (95% CI, 0.1-6.4) and for lower limb DVT of 7.5 (95% CI, 4.4-13.0). The odds ratio for EHPVO in patients with hyperhomocysteinemia was 2.0 (95% CI, 0.9-4.9). At variance with lower limb DVT, oral contraceptive use was not associated with an increased risk of EHPVO. Myeloproliferative disorders were diagnosed in 35% of patients with EHPVO. In conclusion, the risk for EHPVO is increased in the presence of thrombophilia resulting from the Prothrombin G20210A mutation and from the deficiencies of the naturally occurring anticoagulant proteins, but not from factor V Leiden.
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risk factors and recurrence rate of primary deep vein thrombosis of the upper extremities
Circulation, 2004Co-Authors: Ida Martinelli, Tullia Battaglioli, Paolo Bucciarelli, Serena M Passamonti, Pier Mannuccio MannucciAbstract:Background— One third of cases of upper-extremity deep vein thrombosis (DVT) are primary, ie, they occur in the absence of central venous catheters or cancer. Risk factors for primary upper-extremity DVT are not well established, and the recurrence rate is unknown. Methods and Results— We studied 115 primary upper-extremity DVT patients and 797 healthy controls for the presence of thrombophilia due to factor V Leiden, Prothrombin G20210A, antithrombin, protein C, protein S deficiency, and hyperhomocysteinemia. Transient risk factors for venous thromboembolism were recorded. Recurrent upper-extremity DVT was evaluated prospectively over a median of 5.1 years of follow-up. The adjusted odds ratio for upper-extremity DVT was 6.2 (95% CI 2.5 to 15.7) for factor V Leiden, 5.0 (95% CI 2.0 to 12.2) for Prothrombin G20210A, and 4.9 (95% CI 1.1 to 22.0) for the anticoagulant protein deficiencies. Hyperhomocysteinemia and oral contraceptives were not associated with upper-extremity DVT. However, in women with facto...
Ida Martinelli - One of the best experts on this subject based on the ideXlab platform.
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the risk of first venous thromboembolism during pregnancy and puerperium in double heterozygotes for factor v leiden and Prothrombin G20210A
Journal of Thrombosis and Haemostasis, 2008Co-Authors: Ida Martinelli, Tullia Battaglioli, Lelia Valdre, Elvira Grandone, Alberto Tosetto, Daniela Tormene, Valerio De Stefano, Pier Mannuccio MannucciAbstract:BACKGROUND: The risk of venous thromboembolism (VTE) during pregnancy in double heterozygous carriers of factor (F) V Leiden and Prothrombin G20210A is not established. Hence, whether or not these women deserve antithrombotic prophylaxis when pregnant is unknown. PATIENTS AND METHODS: In the frame of a multicenter family study, 52 double heterozygous carriers of FV Leiden and Prothrombin G20210A who had remained pregnant at least once before knowledge of thrombophilia, were retrospectively investigated with respect to the occurrence of first VTE during pregnancy and puerperium. They were compared with 104 heterozygous carriers of FV Leiden, 104 of Prothrombin G20210A and 104 women without thrombophilia. RESULTS: Double heterozygotes were similar to single heterozygous carriers and non-carriers for the age at first pregnancy, age at testing and rate of full-term pregnancies. No VTE during pregnancy was observed in the four groups of women, whereas in the puerperium it occurred in two double carriers (1.8% of pregnancies, 95% CI: 0.5-6.3), three single FV Leiden carriers (1.5%, 0.5-4.3), two single Prothrombin G20210A carriers (1%, 0.2-3.6) and one non-carrier (0.4%, 0-2.5). CONCLUSIONS: The risk of first VTE during pregnancy and puerperium in double heterozygous carriers of FV Leiden and Prothrombin G20210A is low and similar to that of single carriers. As for single heterozygotes, antithrombotic prophylaxis in asymptomatic double heterozygous carriers appears to be justified only in puerperium.
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type and location of venous thromboembolism in patients with factor v leiden or Prothrombin G20210A and in those with no thrombophilia
Journal of Thrombosis and Haemostasis, 2007Co-Authors: Ida Martinelli, Tullia Battaglioli, Cristina Razzari, Pier Mannuccio MannucciAbstract: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.
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risk factors for thrombophilia in extrahepatic portal vein obstruction
Hepatology, 2005Co-Authors: Massimo Primignani, Tullia Battaglioli, Ida Martinelli, Paolo Bucciarelli, R Reati, Federica Fabris, A Dellera, Emanuela Pappalardo, Pier Mannuccio MannucciAbstract:Scant information exists on the role of thrombophilia in extrahepatic portal vein obstruction (EHPVO). We studied 65 patients with EHPVO, 500 with deep vein thrombosis (DVT) of the lower limbs, and 700 healthy controls referred for thrombophilia screening, including the search for gain-of-function mutations in genes encoding coagulation factor V (factor V Leiden) and Prothrombin (Prothrombin G20210A); antithrombin, protein C, and protein S deficiency; and hyperhomocysteinemia. At least one abnormality in the thrombophilia screening was found in 40% of patients with either EHPVO or lower limb DVT and in 13% of controls, for odds ratios of 4.0 (95% CI, 2.3-7.0) and 4.4 (95% CI, 3.3-5.9), respectively. Statistically significant associations with EHPVO were observed for the Prothrombin G20210A mutation (odds ratio, 8.1; 95% CI, 3.8-17.5) and the deficiencies of antithrombin, protein C, or protein S taken together (odds ratio, 4.5; 95% CI, 1.1-18.0). The odds ratio for the Prothrombin G20210A was approximately twice that for lower limb DVT. Patients with factor V Leiden had an odds ratio for EHPVO of 0.8 (95% CI, 0.1-6.4) and for lower limb DVT of 7.5 (95% CI, 4.4-13.0). The odds ratio for EHPVO in patients with hyperhomocysteinemia was 2.0 (95% CI, 0.9-4.9). At variance with lower limb DVT, oral contraceptive use was not associated with an increased risk of EHPVO. Myeloproliferative disorders were diagnosed in 35% of patients with EHPVO. In conclusion, the risk for EHPVO is increased in the presence of thrombophilia resulting from the Prothrombin G20210A mutation and from the deficiencies of the naturally occurring anticoagulant proteins, but not from factor V Leiden.
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risk factors and recurrence rate of primary deep vein thrombosis of the upper extremities
Circulation, 2004Co-Authors: Ida Martinelli, Tullia Battaglioli, Paolo Bucciarelli, Serena M Passamonti, Pier Mannuccio MannucciAbstract:Background— One third of cases of upper-extremity deep vein thrombosis (DVT) are primary, ie, they occur in the absence of central venous catheters or cancer. Risk factors for primary upper-extremity DVT are not well established, and the recurrence rate is unknown. Methods and Results— We studied 115 primary upper-extremity DVT patients and 797 healthy controls for the presence of thrombophilia due to factor V Leiden, Prothrombin G20210A, antithrombin, protein C, protein S deficiency, and hyperhomocysteinemia. Transient risk factors for venous thromboembolism were recorded. Recurrent upper-extremity DVT was evaluated prospectively over a median of 5.1 years of follow-up. The adjusted odds ratio for upper-extremity DVT was 6.2 (95% CI 2.5 to 15.7) for factor V Leiden, 5.0 (95% CI 2.0 to 12.2) for Prothrombin G20210A, and 4.9 (95% CI 1.1 to 22.0) for the anticoagulant protein deficiencies. Hyperhomocysteinemia and oral contraceptives were not associated with upper-extremity DVT. However, in women with facto...
Justo Aznar - One of the best experts on this subject based on the ideXlab platform.
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factor v leiden and Prothrombin G20210A mutations in young adults with cryptogenic ischemic stroke
Thrombosis and Haemostasis, 2004Co-Authors: Justo Aznar, Amparo Vaya, Yolanda Mira, Piedad Villa, Dolores Corella, Fernando Ferrando, Amparo EstellesAbstract:The association between factor V Leiden (FVL) and Prothrombin G20210A (PT 20210) mutations and ischemic stroke remains controversial, particularly in young adults with cryptogenic stroke. Prevalence of FVL (4.1%) and PT 20210 (8.2%) mutations was assessed in 49 patients under 50 years with cryptogenic stroke and compared with controls. Odd ratio (OR) for cryptogenic stroke was 2.62 (95% CI, 0.49-13.95) for FVL and 3.75 (95% CI, 1.05-13.34) for PT 20210 and 3.28 (95% CI, 1,17-9.20) for some recognized genetic thrombophilic defect. Moreover, the OR for cryptogenic stroke in young women using oral contraceptives (OC) was 3.59 (95% CI, 1.28-10.5). When some genetic thrombophilic defect was associated with OC, the OR was much higher (OR: 14.27; 95% CI, 0.66-309.99). Our results suggest that in the Mediterranean populations the PT 20210 mutation, but not FV Leiden, is a risk factor for cryptogenic stroke in young adults. OC use is also a significant risk factor for cryptogenic stroke, which is increased in women with some genetic thrombotic risk factor.
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Prothrombin G20210A mutation and oral contraceptive use increase upper extremity deep vein thrombotic risk
Thrombosis and Haemostasis, 2003Co-Authors: Amparo Vaya, Yolanda Mira, Jose Mateo, Cristina Falco, Piedad Villa, Amparo Estelles, Dolores Corella, Jordi Fontcuberta, Justo AznarAbstract:The role played by a hypercoagulable state, either inherited or acquired, in the pathogenesis of upper-extremity deep vein thrombosis (UEDVT) remains a question of debate. We performed a case-control study including 79 patients with a first objectively confirmed episode of UEDVT, 31 secondary and 48 primary, and 165 healthy controls. Nine patients (11.4%) with UEDVT were carriers of the Prothrombin G20210A mutation vs. six (3.7%) in controls; P = 0.025, OR: 3.39 (95% CI 1.16 to 9.88). No statistical difference was observed between cases and controls for the factor V Leiden mutation, AT, protein C or protein S deficiency and anticardiolipin antibodies (ACAs). Thirteen (35.1%) UEDVT patients were oral contraceptive (OC) users vs. 12 (16%) controls; P = 0.020, OR: 2.89 (95% CI 1.16-7.21). When secondary UEDVT patients were compared with controls, no differences were observed in any of the risk factors analysed. On the other hand, when primary UEDVT was considered, six (12.5%) patients were carriers of the Prothrombin G20210A mutation vs. six (3.7%) controls; P = 0.031, OR: 3.76 (95% CI 1.15-12.26). Regarding ACAs, a borderline statistical significance was observed when primary UEDVT was compared with controls, P = 0.048; OR: 4.88 (95% CI 1.05-22.61). In primary UEDVT, 52% of the fertile women were OC users vs. 16% of controls; P = 0.001, OR: 5.78 (95% CI 2.13-15.67). When the interaction of both factors, i.e. Prothrombin G20210A mutation and OC intake, were considered, the risk increased markedly, indicating a synergistic effect as observed with other thrombotic locations. In patients with primary UEDVT screening for antithrombin, protein C and protein S deficiency and APC resistance would not be justified, although it might be reasonable to determine the carrier status of the Prothrombin G20210A mutation only in OC users.
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risk of venous thrombosis in carriers of the Prothrombin G20210A variant and factor v leiden and their interaction with oral contraceptives
Haematologica, 2000Co-Authors: Justo Aznar, Amparo Vaya, Yolanda Mira, Cristina Falco, Piedad Villa, Amparo Estelles, Dolores Corella, Rafael Segui, Fernando Ferrando, Francisco EspanaAbstract:BACKGROUND AND OBJECTIVES: The Prothrombin G20210A mutation and factor V Leiden have been found to be associated with an increased risk of venous thrombosis, but the reported prevalences of the Prothrombin gene variant both in the normal population and in patients with deep venous thrombosis (DVT) vary greatly in the literature. Moreover, the influence of oral contraceptives (OC) on thrombotic events in patients with the Prothrombin G20210A variant has not been well established. In this study we evaluate both circumstances. DESIGN AND METHODS: A case-control study was run on 229 patients with DVT and 246 healthy controls. The patients' history of thrombosis and acquired thrombotic risk factors, especially OC, were recorded. Prothrombin G20210A mutation, factor V Leiden, antithrombin, heparin II cofactor, plasminogen and proteins C and S were evaluated. RESULTS: Seven and a half percent of the patients and 2.9% of the controls were carriers of the Prothrombin mutation, while 12.2% of the patients and 1.6% of the controls had factor V Leiden. Among the 229 DVT patients there were 130 patients with clinically suspected thrombophilia (first thrombotic event occurring before the age of 45 years or positive family history of thrombosis or recurrent venous thrombosis). Ten percent of these 130 patients were carriers of the Prothrombin G20210A mutation and 18.5% had the factor V Leiden mutation. The odds ratios (OR) for DVT risk were: 2.4 (95% CI, 1.0-6.3) for the total DVT patients and 5.2 (95% CI, 1.4-19.5) for the patients with clinically suspected thrombophilia with the Prothrombin mutation. The risk of thrombosis was 6.9 (95% CI, 2.3-20.6) for the DVT patients and 14.3 (95% CI, 3.3-64.6) for the patients with clinically suspected thrombophilia with factor V Leiden. Fifty-five percent of the patients with combined congenital defects (Prothrombin mutation G20210A plus another congenital defect) had recurrent thrombosis. In women receiving OC the risk of DVT was 3.5 (95% CI, 1.5-8.2) that of the patients not receiving OC. When women with combined defects were also taking OC, the risk of thrombosis increased significantly. INTERPRETATION AND CONCLUSIONS: The prevalence of the Prothrombin G20210A mutation in the healthy population in our study is similar to that observed in other southern European countries. The Prothrombin G20210A mutation does not by itself seem to be a high thrombotic risk factor. However, when it is present together with other thrombotic risk factors, the predicted risk of thrombotic events increases. The use of OC by women with the Prothrombin G20210A variant or FV Leiden, either alone or combined with other thrombotic risk factors, was associated with a significant increase in the risk of venous thrombosis.
Tullia Battaglioli - One of the best experts on this subject based on the ideXlab platform.
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the risk of first venous thromboembolism during pregnancy and puerperium in double heterozygotes for factor v leiden and Prothrombin G20210A
Journal of Thrombosis and Haemostasis, 2008Co-Authors: Ida Martinelli, Tullia Battaglioli, Lelia Valdre, Elvira Grandone, Alberto Tosetto, Daniela Tormene, Valerio De Stefano, Pier Mannuccio MannucciAbstract:BACKGROUND: The risk of venous thromboembolism (VTE) during pregnancy in double heterozygous carriers of factor (F) V Leiden and Prothrombin G20210A is not established. Hence, whether or not these women deserve antithrombotic prophylaxis when pregnant is unknown. PATIENTS AND METHODS: In the frame of a multicenter family study, 52 double heterozygous carriers of FV Leiden and Prothrombin G20210A who had remained pregnant at least once before knowledge of thrombophilia, were retrospectively investigated with respect to the occurrence of first VTE during pregnancy and puerperium. They were compared with 104 heterozygous carriers of FV Leiden, 104 of Prothrombin G20210A and 104 women without thrombophilia. RESULTS: Double heterozygotes were similar to single heterozygous carriers and non-carriers for the age at first pregnancy, age at testing and rate of full-term pregnancies. No VTE during pregnancy was observed in the four groups of women, whereas in the puerperium it occurred in two double carriers (1.8% of pregnancies, 95% CI: 0.5-6.3), three single FV Leiden carriers (1.5%, 0.5-4.3), two single Prothrombin G20210A carriers (1%, 0.2-3.6) and one non-carrier (0.4%, 0-2.5). CONCLUSIONS: The risk of first VTE during pregnancy and puerperium in double heterozygous carriers of FV Leiden and Prothrombin G20210A is low and similar to that of single carriers. As for single heterozygotes, antithrombotic prophylaxis in asymptomatic double heterozygous carriers appears to be justified only in puerperium.
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type and location of venous thromboembolism in patients with factor v leiden or Prothrombin G20210A and in those with no thrombophilia
Journal of Thrombosis and Haemostasis, 2007Co-Authors: Ida Martinelli, Tullia Battaglioli, Cristina Razzari, Pier Mannuccio MannucciAbstract: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.
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risk factors for thrombophilia in extrahepatic portal vein obstruction
Hepatology, 2005Co-Authors: Massimo Primignani, Tullia Battaglioli, Ida Martinelli, Paolo Bucciarelli, R Reati, Federica Fabris, A Dellera, Emanuela Pappalardo, Pier Mannuccio MannucciAbstract:Scant information exists on the role of thrombophilia in extrahepatic portal vein obstruction (EHPVO). We studied 65 patients with EHPVO, 500 with deep vein thrombosis (DVT) of the lower limbs, and 700 healthy controls referred for thrombophilia screening, including the search for gain-of-function mutations in genes encoding coagulation factor V (factor V Leiden) and Prothrombin (Prothrombin G20210A); antithrombin, protein C, and protein S deficiency; and hyperhomocysteinemia. At least one abnormality in the thrombophilia screening was found in 40% of patients with either EHPVO or lower limb DVT and in 13% of controls, for odds ratios of 4.0 (95% CI, 2.3-7.0) and 4.4 (95% CI, 3.3-5.9), respectively. Statistically significant associations with EHPVO were observed for the Prothrombin G20210A mutation (odds ratio, 8.1; 95% CI, 3.8-17.5) and the deficiencies of antithrombin, protein C, or protein S taken together (odds ratio, 4.5; 95% CI, 1.1-18.0). The odds ratio for the Prothrombin G20210A was approximately twice that for lower limb DVT. Patients with factor V Leiden had an odds ratio for EHPVO of 0.8 (95% CI, 0.1-6.4) and for lower limb DVT of 7.5 (95% CI, 4.4-13.0). The odds ratio for EHPVO in patients with hyperhomocysteinemia was 2.0 (95% CI, 0.9-4.9). At variance with lower limb DVT, oral contraceptive use was not associated with an increased risk of EHPVO. Myeloproliferative disorders were diagnosed in 35% of patients with EHPVO. In conclusion, the risk for EHPVO is increased in the presence of thrombophilia resulting from the Prothrombin G20210A mutation and from the deficiencies of the naturally occurring anticoagulant proteins, but not from factor V Leiden.
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risk factors and recurrence rate of primary deep vein thrombosis of the upper extremities
Circulation, 2004Co-Authors: Ida Martinelli, Tullia Battaglioli, Paolo Bucciarelli, Serena M Passamonti, Pier Mannuccio MannucciAbstract:Background— One third of cases of upper-extremity deep vein thrombosis (DVT) are primary, ie, they occur in the absence of central venous catheters or cancer. Risk factors for primary upper-extremity DVT are not well established, and the recurrence rate is unknown. Methods and Results— We studied 115 primary upper-extremity DVT patients and 797 healthy controls for the presence of thrombophilia due to factor V Leiden, Prothrombin G20210A, antithrombin, protein C, protein S deficiency, and hyperhomocysteinemia. Transient risk factors for venous thromboembolism were recorded. Recurrent upper-extremity DVT was evaluated prospectively over a median of 5.1 years of follow-up. The adjusted odds ratio for upper-extremity DVT was 6.2 (95% CI 2.5 to 15.7) for factor V Leiden, 5.0 (95% CI 2.0 to 12.2) for Prothrombin G20210A, and 4.9 (95% CI 1.1 to 22.0) for the anticoagulant protein deficiencies. Hyperhomocysteinemia and oral contraceptives were not associated with upper-extremity DVT. However, in women with facto...
Paul A Kyrle - One of the best experts on this subject based on the ideXlab platform.
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risk assessment of recurrence in patients with unprovoked deep vein thrombosis or pulmonary embolism the vienna prediction model
Circulation, 2010Co-Authors: Sabine Eichinger, Georg Heinze, Lisanne M Jandeck, Paul A KyrleAbstract:Background— Predicting the risk of recurrent venous thromboembolism (VTE) in an individual patient is often not feasible. We aimed to develop a simple risk assessment model that improves prediction of the recurrence risk. Methods and Results— In a prospective cohort study, 929 patients with a first unprovoked VTE were followed up for a median of 43.3 months after discontinuation of anticoagulation. We excluded patients with a strong thrombophilic defect such as a natural inhibitor deficiency, the lupus anticoagulant, and homozygous or combined defects. A total of 176 patients (18.9%) had recurrent VTE. Preselected clinical and laboratory variables (age, sex, location of VTE, body mass index, factor V Leiden, Prothrombin G20210A mutation, D-dimer, and in vitro thrombin generation) were analyzed in a Cox proportional hazards model, and those variables that were significantly associated with recurrence were used to compute risk scores. Male sex (hazard ratio versus female sex 1.90, 95% confidence interval 1....
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risk assessment of recurrence in patients with unprovoked deep vein thrombosis or pulmonary embolism the vienna prediction model
Circulation, 2010Co-Authors: Sabine Eichinger, Georg Heinze, Lisanne M Jandeck, Paul A KyrleAbstract:Background— Predicting the risk of recurrent venous thromboembolism (VTE) in an individual patient is often not feasible. We aimed to develop a simple risk assessment model that improves prediction of the recurrence risk. Methods and Results— In a prospective cohort study, 929 patients with a first unprovoked VTE were followed up for a median of 43.3 months after discontinuation of anticoagulation. We excluded patients with a strong thrombophilic defect such as a natural inhibitor deficiency, the lupus anticoagulant, and homozygous or combined defects. A total of 176 patients (18.9%) had recurrent VTE. Preselected clinical and laboratory variables (age, sex, location of VTE, body mass index, factor V Leiden, Prothrombin G20210A mutation, D-dimer, and in vitro thrombin generation) were analyzed in a Cox proportional hazards model, and those variables that were significantly associated with recurrence were used to compute risk scores. Male sex (hazard ratio versus female sex 1.90, 95% confidence interval 1....
