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.

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