Updated: 11/30/2016

Prothrombin Gene Mutation

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Introduction
  • A mutation in the prothrombin gene that results in increased expression
    • a point mutation is in the 3' untranslated region (20210A)
  • Resultant state of hypercoagulability via increase in thrombin
Presentation
  • Symptoms
    • recurrent DVTs
    • DVTs beginning at a young age
Prognosis, Prevention, and Complications
  • Female patients should not use oral contraception, which can increase the hypercoagulable state by increasing coagulation factor synthesis
 

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