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Inherited prothrombotic defects in Budd-Chiari syndrome and portal vein thrombosis: a study from North India
Maitreyee Bhattacharyya1, Govind Makharia, M Kannan
1Department of Hematology, All India Institute of Medical Sciences, New Delhi.
Insights
Inherited prothrombotic defects are common in Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). Factor V Leiden mutation was most frequent in BCS, while protein C deficiency was most common in PVT patients.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) are serious conditions often linked to thrombotic events.
- Identifying underlying inherited prothrombotic defects is crucial for patient management and risk assessment.
Purpose of the Study:
- To investigate the prevalence of inherited prothrombotic defects in patients diagnosed with BCS and PVT.
- To compare the frequency of specific genetic mutations and deficiencies between BCS and PVT cohorts.
Main Methods:
- Studied 57 BCS patients and 48 PVT patients for inherited prothrombotic defects.
- Analyzed deficiencies in protein C, protein S, and antithrombin III.
- Screened for genetic mutations: factor V Leiden, prothrombin gene 20210A, and methyltetrahydrofolate reductase (MTHFR) C677T in a subset of patients.
Main Results:
- Inherited prothrombotic defects were found in 28% of BCS patients and 15% of PVT patients.
- Factor V Leiden mutation was the most common defect in BCS (17%), while protein C deficiency was most prevalent in PVT (8%).
- Heterozygous MTHFR C677T mutation was observed in 24% of BCS and 21% of PVT patients.
Conclusions:
- Inherited prothrombotic defects represent a significant risk factor in both BCS and PVT.
- The etiological profile of these defects differs between BCS and PVT, highlighting the need for tailored genetic screening.
- Further research is warranted to elucidate the full spectrum of genetic predispositions in these thrombotic disorders.
Abstract:
We studied 57 patients with Budd-Chiari syndrome (BCS) and 48 with portal vein thrombosis (PVT) for underlying inherited prothrombotic defects such as protein C, protein S, and antithrombin III deficiencies. Genetic mutations for factor V Leiden, prothrombin gene 20210A, and methyltetrahydrofolate reductase (MTHFR) C677T were studied in 29 patients in each group. Inherited prothrombotic defects were detected in 16 (28%) of 57 patients with BCS and 7 (15%) of 48 patients with PVT. Factor V Leiden mutation was the most common prothrombotic defect in BCS (5/29 [17%]) followed by protein C deficiency (7/57 [12%]) and protein S deficiency (4/57 [7%]), whereas in PVT, protein C deficiency was the most common inherited prothrombotic defect (4/48 [8%]) followed by protein S deficiency (2/48 [4%]). The factor V Leiden mutation was detected in only 1 (3%) of 29 cases of PVT. The heterozygous MTHFR C677T mutation was detected in 7 (24%) of 29 patients with BCS and 6 (21%) of 29 patients with PVT. Antithrombin III deficiency, homozygous MTHFR C677T mutation, and prothrombin G20210A mutation were not detected in any patients.
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