Frequent factor II G20210A mutation in idiopathic portal vein thrombosis

Chamouard, P.; Pencreach, Erwan; Maloisel, Frédéric; Grunebaum, Lélia; Ardizzone, Jean-François; Meyer, A.; Gaub, Marie–Pierre; Goetz, Joëlle; Baumann, René; Uring‐Lambert, B.; Levy, Salomon Mony; Dufour, Patrick; Hauptmann, G.; Oudet, P

doi:10.1016/s0016-5085(99)70238-6

Cited by 100 publications

(51 citation statements)

References 18 publications

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“…10,11 On the other hand, our study did not confirm either the increased frequency of prothrombin G20210A mutation in PVT or the suggestion that homozygous MTHFR C677T genotype is strongly associated with this medical entity. [12][13][14][15] Furthermore, we could not substantiate the results of other reports 16 concerning the role of LA in PVT, as LA was recovered neither in any PVT patient nor in any other of our patients. In our study, MPD as a cause of PVT ranked second (22.2%) after liver cirrhosis (33.3%), but most of the previous studies found them to prevail with prevalence rates ranging from 30% to 48%.…”

Section: Portal Vein Thrombosiscontrasting

confidence: 92%

Thrombophilia and abdominal vessel thrombosis in a Greek University hospital: A five year experience

Starakis¹,

Mazokopakis²,

Mougiou³

et al. 2010

Gastroenterol Insights

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Section: Portal Vein Thrombosiscontrasting

confidence: 92%

Thrombophilia and abdominal vessel thrombosis in a Greek University hospital: A five year experience

Starakis¹,

Mazokopakis²,

Mougiou³

et al. 2010

Gastroenterol Insights

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“…The mutation is located in the untranslated 3Ј end of the prothrombin gene and is associated with increased prothrombin levels in plasma, which may explain the hypercoagulable effect of the prothrombin gene variant. The presence of the prothrombin G20210A gene variant is not only associated with thrombosis of the lower extremities [14] but is also associated with a significant increased risk of thrombosis at unusual sites such as cerebral venous sinus thrombosis [3], portal vein thrombosis, and hepatic vein thrombosis [4]. In the present study on DVT of the upper extremity no patient with a prothrombin G20210A gene variant was identified.…”

Section: Discussionmentioning

confidence: 59%

“…In the latter studies only a small number of patients were included, patient selection was different, and in most studies the prothrombin G20210A gene variant has not been evaluated. This factor is especially interesting to study because of the recent reports that suggest that the prothrombin G20210A gene variant plays an important role in the pathogenesis of thrombosis at unusual sites, such as hepatic vein, portal vein, and cerebral vein thrombosis [3,4]. In this report we present our findings on acquired and genetic thrombophilic risk factors in patients with DVTUE.…”

Section: Introductionmentioning

confidence: 81%

Hypercoagulability states in upper‐extremity deep venous thrombosis

et al. 2001

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Deep venous thrombosis of the upper extremity (DVTUE) is a rare thrombotic disorder that may occur spontaneously but is most often related to predisposing factors, such as an indwelling central venous catheter, malignancy, or exercise. The role of coagulation disorders, i.e., a hypercoagulable state in the pathogenesis of DVTUE is not well known. We have evaluated both genetic and acquired thrombophilia parameters in consecutive patients with DVTUE. A hypercoagulable state was found in 32% of the patients. The most frequent coagulation abnormality was the presence of lupus anticoagulant or anticardiolipin antibodies (27%). Factor V Leiden mutation was detected in two patients, antithrombin deficiency in one, and none of the patients had the prothrombin G20210A gene variant or protein C or S deficiency. The prevalence of coagulation abnormalities was not significantly different in a subgroup of patients with spontaneous DVTUE as compared to those with an obvious predisposing factor, such as an indwelling central venous catheter. We conclude that antiphospholipid antibodies are frequently found in patients with DVTUE. Factor V Leiden mutation, prothrombin 20210A gene variant, protein C deficiency, and protein S deficiency do not seem to play a major pathogenetic role in DVTUE. Am. J. Hematol. 67:15-19, 2001.

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“…5 In contrast, only a few studies, mainly small ones, have examined the role of thrombophilia in patients with EHPVO. 4,[6][7][8][9][10][11] We performed a large case-control study of patients with EHPVO to investigate the spectrum of risk factors for the disease. We also investigated a parallel group of patients with DVT of the lower limbs to compare for the first time the magnitude of the risks in these two different localizations of venous thromboembolic disease.…”

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confidence: 99%

Risk factors for thrombophilia in extrahepatic portal vein obstruction

et al. 2005

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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. (HEPATOLOGY 2005;41:603-608.)

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Frequent factor II G20210A mutation in idiopathic portal vein thrombosis

Cited by 100 publications

References 18 publications

Thrombophilia and abdominal vessel thrombosis in a Greek University hospital: A five year experience

Thrombophilia and abdominal vessel thrombosis in a Greek University hospital: A five year experience

Hypercoagulability states in upper‐extremity deep venous thrombosis

Risk factors for thrombophilia in extrahepatic portal vein obstruction

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