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Genetic and Rare Diseases Information Center (GARD)

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Factor V Leiden thrombophilia


* Not a rare disease
Other Names for this Disease
  • APC resistance, Leiden type
  • Hereditary resistance to activated protein C
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What causes factor V Leiden thrombophilia?

Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury.  Genes are our body’s instructions for making proteins. The factor V gene instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.[1][2]
Last updated: 6/29/2012

  1. Factor V Leiden thrombophilia. Genetics Home Reference. August 2010; Accessed 8/8/2011.
  2. Kujovich J.. Factor V Leiden thrombophilia. GeneReviews. March 2010; Accessed 8/8/2011.