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Published on: February 10, 2023

Thrombophilia and cerebral vein thrombosis

Alfonso Iorio1, Chris Barnes, Maria Cristina Vedovati

  • 1Stroke Unit and Division of Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Santa Maria della Misericordia Hospital, Via Dottori, Sant' Andrea delle Fratte, Perugia, Italy. iorioa@unipg.it

Frontiers of Neurology and Neuroscience
|November 16, 2007
PubMed

Insights

Thrombophilia, a blood clotting disorder, is a key factor in cerebral venous thrombosis (CVT). Testing for thrombophilia is crucial in CVT patients, even when other causes are found, to guide treatment and family screening.

Area of Science:

  • Neurology
  • Hematology
  • Genetics

Background:

  • Cerebral venous thrombosis (CVT) is a complex condition with multiple contributing factors.
  • Idiopathic CVT, lacking identifiable causes, accounts for 12.5% of cases.
  • Thrombophilia, a predisposition to blood clots, is often suspected in specific CVT patient groups.

Purpose of the Study:

  • To review evidence on thrombophilic factors in CVT.
  • To provide guidance on appropriate laboratory investigations for thrombophilia in CVT patients.
  • To determine if diagnostic test results impact patient management or family screening.

Main Methods:

  • Literature review of existing evidence on thrombophilic factors and CVT.
  • Analysis of diagnostic criteria for idiopathic CVT.
  • Evaluation of laboratory markers for congenital and acquired thrombophilia.

Main Results:

  • Thrombophilia should be investigated in CVT patients regardless of other identified causes.
  • Factor V Leiden mutation (OR 3.38), Prothrombin G20210A mutation (OR 9.27), antiphospholipid syndrome (OR 32), and hyperhomocysteinemia (OR 4.07) are significant risk factors for CVT.
  • Diagnostic testing is recommended only when results influence patient or family member management.

Conclusions:

  • Thrombophilia testing is essential for comprehensive CVT evaluation and management.
  • A multi-faceted approach is necessary, considering both thrombophilia and other potential causes.
  • Strategic laboratory investigation aids in personalized treatment and preventative strategies for at-risk families.

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