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Genetic and Rare Diseases Information Center (GARD)

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Factor V Leiden thrombophilia

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* Not a rare disease
Other Names for this Disease
  • APC resistance, Leiden type
  • Hereditary resistance to activated protein C
More Names
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Overview


Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or two copies of the factor V Leiden gene mutation. Those who inherit one copy are called heterozygotes. People who inherit two copies of the mutation, one from each parent, are called homozygotes. Having the factor V Leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (DVT). It also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (PE).[1][2]


References

  1. Factor V Leiden thrombophilia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=factorvleidenthrombophilia. Accessed August 8, 2011.
  2. Kujovich J.. Factor V Leiden thrombophilia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1368/. Accessed August 8, 2011.
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General Information

  • The American Heart Association has published an article for patients on factor V Leiden.
  • The !LINK! has an information page on factor V Leiden. Click on Centers for Disease Control to view the Web page.
  • Clot Connect, an education and outreach project lead by health care providers at the University of North Carolina at Chapel Hill, has information for patients and healthcare professionals.
  • Genetics Home Reference (GHR) contains information on Factor V Leiden thrombophilia. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Factor V Leiden thrombophilia. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Factor V Leiden thrombophilia. Click on the link to go to OMIM and review these resources.