Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes

Abstract

Mesenteric venous thrombosis (MVT) is a rare but life threatening form of bowel ischemia. It is implicated in 6%-9% of all cases of acute mesenteric ischemia. The proportion of patients with primary (or idiopathic) MVT varies from 0% to 49%, with a decrease in frequency secondary to more recent availability of newer investigations for hypercoagulability. The presence of factor V Leiden (FVL) and prothrombin G20210A mutations (PGM) have been well documented in these cases. However, there have been scarce case reports describing MVT in heterozygotes of both these mutations occurring simultaneously and its implications on long term management. Our case describes acute MVT in a previously asymptomatic young patient with no prior history of venous thromboembolism. The patient was found to be heterozygous for FVL and PGM and treated with lifelong anticoagulation with warfarin (goal international normalized ratio: 2-3) and avoidance of hormonal contraceptives.

Keywords: Mesenteric vein thrombosis; Prothrombin gene; Factor V Leiden; Heterozygous; Anticoagulation; Oral contraceptives

Core tip: The common presence of two thrombophilic defects increases the thrombotic risk several folds above the risk of a single defect and these tend to occur at an earlier age as seen in our case. Also the risk of recurrent thrombosis is significantly increased among these heterozygotes. Indefinite anticoagulation with oral anticoagulants (goal International Normalized Ratio = 2-3) is recommended for high risk patients like our case with thrombosis at unusual sites (e.g., mesenteric vein), and heterozygosity for both factor V Leiden and prothrombin G20210A mutations. These patients should avoid any hormonal therapy and family members should be screened for underlying prothrombotic condition.