Inherited coagulation disorders in cirrhotic patients with portal vein thrombosis

The prevalence and pathogenesis of portal vein thrombosis (PVT) in patients with cirrhosis without hepatocellular carcinoma are not clearly defined, T he role of thrombophilic genetic factors is well established in other venou s thrombotic diseases, as well as in noncirrhotic portal thrombosis. Recent ly, new, inherited thrombophilic disorders (factor V Leiden [FVL], mutation G20210A of prothrombin [PTHR A(20210)], and mutation TT677 of methylenetet rahydrofolate reductase [MTHFR C677-->T]) have been identified and associat ed with increased risk of venous thrombosis. The aim of our study was to in vestigate the role of these thrombophilic disorders in the pathogenesis of PVT in cirrhotic patients. Twenty-three cirrhotic patients with PVT and 40 cirrhotics without PVT were included. A group of 184 patients with deep vei n thrombosis (DVT) and 431 healthy persons served as controls, The FVL, PTH R A(20210), and MTHFR C-677-->T genotypes were identified by a polymerase c hain reaction and restriction analysis, The frequencies of FVL, PTHR A(2021 0) mutation, and homozygous MTHFR C-677-->T were 13%, 34.8%, and 43.5% in c irrhotic patients with PVT and 7.5%, 2.5%, and 5% in cirrhotic patients wit hout PVT, respectively. Five patients in the former group had associated de fects. A thrombophilic genotype was detected in 69.5% of the patients with PVT Identification of this high-risk group may have implications in patient s who are candidates for major surgery or liver transplantation, and may in fluence the duration of oral anticoagulation.