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Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes
Paras Karmacharya1, Madan Raj Aryal, Anthony Donato
1Paras Karmacharya, Madan Raj Aryal, Anthony Donato, Department of Internal Medicine, Reading Health System, West Reading, PA 19611, United States.
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.
Insights
Mesenteric venous thrombosis (MVT) can occur in young patients with simultaneous Factor V Leiden and prothrombin G20210A mutations. Lifelong anticoagulation is crucial for managing this rare but serious condition.
Area of Science:
- Vascular Surgery
- Gastroenterology
- Hematology
Background:
- Mesenteric venous thrombosis (MVT) is a rare cause of bowel ischemia, accounting for 6%-9% of acute cases.
- Primary MVT frequency has decreased due to advanced hypercoagulability testing.
- Factor V Leiden (FVL) and prothrombin G20210A mutations (PGM) are known risk factors for MVT.
Observation:
- This case report details MVT in a young, previously asymptomatic patient.
- The patient presented with acute MVT and was found to be heterozygous for both FVL and PGM.
Findings:
- Simultaneous heterozygosity for FVL and PGM is a rare finding in MVT cases.
- This genetic profile indicates an increased risk for venous thromboembolism.
Implications:
- Management requires lifelong anticoagulation, such as warfarin with a target INR of 2-3.
- Patients with this genetic profile should avoid hormonal contraceptives.
- Further research is needed on the long-term implications and optimal management strategies for MVT in patients with combined thrombophilic mutations.
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