Frequent factor II G20210A mutation in idiopathic portal vein thrombosis

Patrick Chamouard , Erwan Pencreach , Frédéric Maloisel , Lélia Grunebaum , Jean-François Ardizzone , Alice Meyer , Marie-Pierre Gaub , Joëlle Goetz , René Baumann , Béatrice Uring-Lambert , Salomon Levy , Patrick Dufour , Georges Hauptmann , Pierre Oudet (1, 1)

1 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire

BACKGROUND & AIMS: Despite extensive investigations of portal vein thrombosis, no underlying cause is identifiable in up to 30% of patients. A recently described mutation of the prothrombin gene at nucleotide position 20210 is associated with history of venous thrombosis and was assessed in this study. METHODS: We compared the frequency of factor II G20210A and factor V G1691A (factor V Leiden) mutations in 10 patients with idiopathic portal vein thrombosis, 10 patients with nonidiopathic portal vein thrombosis, 60 patients with deep vein thrombosis of the legs, and 42 control subjects. RESULTS: The frequency of factor II G20210A mutation was increased in patients with idiopathic portal vein thrombosis (40.0%; confidence interval, 3.1%-76.9%) compared with controls (4.8%; confidence interval, 0%-11.5%) or patients with nonidiopathic portal vein thrombosis or deep vein thrombosis (P = 0.0001). In contrast, the frequency of the factor V G1691A mutation was similar in subjects with portal vein thrombosis and in controls but was increased in patients with deep vein thrombosis (P = 0.0001). CONCLUSIONS: The factor II G20210A mutation is frequent in patients with idiopathic portal vein thrombosis and should therefore be assessed under this circumstance.

Domaines: Biochimie, Biologie Moléculaire

Patrick Chamouard, Erwan Pencreach, Frédéric Maloisel, Lélia Grunebaum, Jean-François Ardizzone, et al.. Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. Gastroenterology, 1999, 116 (1), pp.144-148. ⟨10.1016/s0016-5085(99)70238-6⟩. ⟨hal-04027663⟩