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Diseases

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
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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]
Last updated: 6/29/2012

References

  1. Factor V Leiden thrombophilia. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition=factorvleidenthrombophilia. Accessed 8/8/2011.
  2. Kujovich J.. Factor V Leiden thrombophilia. GeneReviews. March 2010; http://www.ncbi.nlm.nih.gov/books/NBK1368/. Accessed 8/8/2011.
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Basic Information

  • The American Heart Association has published an article for patients on factor V Leiden.
  • Genetics Home Reference (GHR) contains information on Factor V Leiden thrombophilia. This website is maintained by the National Library of Medicine.
  • 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.

In Depth 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 Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.