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DVT: Factor V Leiden, a case report.

Sonali Birewar1, Melvin Thomas, Michael S McHale

  • 1USD School of Medicine, Sioux Falls, SD, USA. sbirewar@usd.edu

South Dakota Journal of Medicine
|June 28, 2003
PubMed
Summary

A young man developed deep venous thrombosis (DVT) after knee surgery, linked to a genetic clotting disorder called homozygous Factor V Leiden. He will receive lifelong blood thinners and his family will be screened for the mutation.

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Area of Science:

  • Genetics
  • Hematology
  • Vascular Medicine

Background:

  • Deep venous thrombosis (DVT) is a serious condition often influenced by genetic factors.
  • Post-operative DVT risk is significant, particularly after orthopedic procedures like knee arthroscopy.
  • Family history of thrombosis suggests a potential inherited predisposition.

Observation:

  • A 33-year-old male presented with extensive lower extremity DVT shortly after knee arthroscopy.
  • The patient had a strong family history of DVT.
  • Genetic testing revealed homozygous Factor V gene R506Q mutation (Factor V Leiden).

Findings:

  • The patient's DVT was associated with homozygous Factor V Leiden mutation.
  • Homozygous Factor V Leiden significantly increases the risk of venous thromboembolism.
  • The case highlights the challenges in managing inherited thrombophilias.

Implications:

  • Lifelong anticoagulation is recommended for homozygous Factor V Leiden carriers presenting with DVT.
  • Genetic counseling and screening of at-risk family members are crucial for early detection and prevention.
  • This case underscores the importance of considering genetic predispositions in young patients with unexplained thrombotic events.

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