Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Activated Protein C Resistance
  • APC resistance, Leiden type
  • Hereditary resistance to activated protein C
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Home > Genetic & Rare Diseases Information Center (GARD) > Factor V Leiden thrombophilia



Factor V Leiden thrombophilia
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Factor V Leiden is the name of a mutation in the factor V gene. A mutation is a change in a gene from its natural state. The factor V Leiden gene mutation can cause thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels. People who have the factor V Leiden mutation are at somewhat higher than average risk for a type of clot that forms in large veins in the legs (deep venous thrombosis, or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE).[1][2]

References
  1. Factor V Leiden thrombophilia. Genetics Home Reference. 2007 Available at: http://ghr.nlm.nih.gov/condition=factorvleidenthrombophilia. Accessed February 13, 2008.
  2. Kujovich J.. Factor V Leiden thrombophilia. GeneReviews. 2007 Available at: http://tiny.cc/cKtdc. Accessed February 13, 2008.

Questions & Answers (Found 3 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Factor V Leiden thrombophilia click on the boxes below:
More Detailed Information NLM Gateway Services Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 9 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • The American Heart Association has published an article on factor V Leiden. Click on The American Heart Association to view the article.
    • The Centers for Disease Control has an information page on factor V Leiden. Click on Centers for Disease Control to view the Web page.
    • eMedicine 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 Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on Factor V Leiden thrombophilia. Click on the link to go to GHR and review this summary.
    • 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.
    • 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.
    • 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.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 Specialty Clinics/Treatment Centers | Ask-an-Expert
Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Specialty Clinics/Treatment Centers

    • You can find a list of thrombophilia specialty centers within the United States on the Centers for Disease Control and Prevention Web site. Click on thrombophilia specialty centers to view the list.
  • Ask-an-Expert

 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Factor V Leiden thrombophilia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • The Rare Thrombotic Diseases Consortium (RTDC) is funded by the National Institutes of Health (NIH) and is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in different forms of and improving the care of patients with thrombotic diseases. 

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