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Hereditary thrombophilia in cerebral venous thrombosis: a study from India

Navin Pai1, Kanjaksha Ghosh, Shrimati Shetty

  • 1National Institute of Immunohaematology, KEM Hospital, Parel, Mumbai, India.

Insights

This study investigated thrombophilia markers in Indian patients with cerebral venous thrombosis (CVT). Approximately one-fifth of patients had thrombophilia markers, with protein C deficiency being most common, aiding in diagnosis and reducing mortality.

Area of Science:

  • Neurology
  • Hematology
  • Genetics

Background:

  • Cerebral venous thrombosis (CVT) is a significant cause of neurological deficits.
  • Systematic studies on thrombophilia markers in Indian CVT patients are limited.

Purpose of the Study:

  • To determine the prevalence of common hereditary thrombophilia markers in a large cohort of Indian patients with CVT.
  • To identify associations between thrombophilia markers and patient demographics.

Main Methods:

  • A cohort of 612 CVT patients from Mumbai (2001-2010) were tested for protein C, protein S, antithrombin deficiencies, and Factor V Leiden mutation.
  • Clinical manifestations, site of thrombosis, and associated pathologies were recorded.
  • Patients were treated with heparin followed by warfarin.

Main Results:

  • Eighteen percent of patients exhibited thrombophilia markers, with protein C deficiency being the most prevalent.
  • Protein C deficiency was significantly higher in men under 45 (P=0.03), and protein S deficiency in women (P=0.04).
  • Superior sagittal sinus thrombosis was the most common site (74%).

Conclusions:

  • Thrombophilia markers are present in approximately one-fifth of Indian CVT patients.
  • Early diagnosis and anticoagulation significantly reduced CVT-related mortality (13%).
  • Pregnancy- and puerperium-related CVT was less common than previously reported.

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