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Related Experiment Videos

Recurrent venous thrombosis with factor V Leiden mutation.

S Meenakshi-Sundaram1, Rohini Sridhar, J J Jithendrian

  • 1Department of Neurosciences, Apollo Speciality Hospitals, Lake View Road, KK Nagar, Madurai, Tamil Nadu.

The Journal of the Association of Physicians of India
|September 30, 2005
PubMed
Summary

Factor V Leiden mutation can cause recurrent blood clots, including deep vein thrombosis and cerebral venous thrombosis. Genetic testing is crucial for patients with unexplained or repeated clotting events.

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Area of Science:

  • Internal Medicine
  • Hematology
  • Genetics

Background:

  • Recurrent venous thromboembolism poses a significant clinical challenge.
  • Identifying underlying hypercoagulable states is essential for effective management.
  • Factor V Leiden mutation is a common inherited thrombophilia.

Observation:

  • A patient experienced recurrent venous thrombosis, initially deep vein thrombosis of the lower limb, followed by cerebral venous thrombosis.
  • The patient had a history of discontinuing oral anticoagulant therapy.
  • Partial improvement was noted with anticoagulant therapy for cerebral venous thrombosis.

Findings:

  • Polymerase chain reaction (PCR) analysis identified the factor V Leiden mutation.
  • This genetic mutation was confirmed as the cause of the patient's hypercoagulable state.

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  • Long-term anticoagulation therapy has been recommended.
  • Implications:

    • Testing for factor V Leiden mutation is strongly indicated in patients with spontaneous thrombosis.
    • Early diagnosis and appropriate anticoagulation can prevent recurrent thrombotic events.
    • Genetic screening aids in personalized risk assessment and long-term treatment strategies for thrombophilia.