What causes factor V Leiden in the pathogenesis of hypercoagulability?

Updated: Jan 05, 2018
  • Author: Paul Schick, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Factor V Leiden (named after the city in the Netherlands where it was first identified, in 1994) results from a specific point mutation in the factor V gene, which is located in the long arm of chromosome one. Glutamine (Q) is substituted for arginine (R)-506 in the heavy chain of factor V (R506Q).  The amino acid substitution alters the APC cleavage site on factor V, causing a partial resistance to inactivation.


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