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Disease Profile
Factor V Leiden thrombophilia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hereditary resistance to activated protein C; APC resistance, Leiden type
Categories
Blood Diseases
Summary
Factor V Leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg (deep venous thrombosis or DVT) or lungs (pulmonary embolism or PE).[1][2] Factor V Leiden is the name of a specific
This condition should not be confused with Factor V deficiency, an
Symptoms
The chance a person with a factor V Leiden
The most common type of blood clots associated with factor V Leiden thrombophilia, are deep venous thrombosis or DVT and pulmonary embolism or PE.[1] Signs and symptoms of DVT include leg pain, tenderness, swelling, increased warmth or redness in one leg. Signs and symptoms of pulmonary embolism usually include cough, chest pain, shortness of breath or rapid heartbeat or breathing.[5] To learn more about the symptoms of DVT and PE, click here.
While less common, other possible sites of blood clots, include superficial veins of the leg, veins carrying blood from the digestive
Cause
Diagnosis
Targeted mutation analysis (a type of
Treatment
People with factor V Leiden thrombophilia who've had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants (such as heparin and warfarin). Anticoagulants are given for varying amounts of time depending on the person's situation. It is not usually recommended that people with factor V Leiden be treated lifelong with anticoagulants if they have had only one DVT or PE, unless they have additional blood clot
People who have factor V Leiden but have never had a blood clot are not routinely treated with an anticoagulant. Instead, they are counseled about reducing or eliminating other factors that add to their risk for clots. They may require temporary treatment with an anticoagulant during periods of particularly high risk, such as major surgery.[7]
Women with factor V Leiden thrombophilia most often have normal pregnancies. Treatment with an anticoagulant during pregnancy and/or following delivery is often not needed, but may be recommended depending on the woman's personal and family health history, method of delivery, and other risk factors.[4][7]
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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National Blood Clot Alliance
8321 Old Courthouse Road
Suite 255
Vienna, VA 22182
Toll-free: 1-877-466-2568 (877-4NO-CLOT)
Telephone: +1-703-935-8845
E-mail: [email protected]
Website: https://www.stoptheclot.org/
Organizations Providing General Support
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Clot Connect
c/o Dr Stephan Moll
University of North Carolina School of Medicine
CB 7035
Chapel Hill, NC 27599
E-mail: https://clotconnect.wpcomstaging.com/contact/
Website: https://clotconnect.wpcomstaging.com/ -
Vascular Cures
274 Redwood Shores Parkway, #717
Redwood City, CA 94065
Telephone: +1-650-368-6022
E-mail: [email protected]
Website: https://vascularcures.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- 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) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
In-Depth Information
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
References
- Factor V Leiden thrombophilia. Genetics Home Reference. August 2010; https://ghr.nlm.nih.gov/condition=factorvleidenthrombophilia.
- Kujovich J.. Factor V Leiden thrombophilia. GeneReviews. March 2010; https://www.ncbi.nlm.nih.gov/books/NBK1368/.
- MacCallum P, Bowles L, Keeling D. Diagnosis and management of heritable thrombophilias. BMJ. 2014; 349:g4387. Accessed 8/23/2017.
- Bauer KA. Factor V Leiden and activated protein C resistance: Clinical manifestations and diagnosis. In: Leung LLK ed.,. UpToDate. Waltham, MA: UpToDate; 2015;
- Deep venous thrombosis. MedlinePlus. 2007; https://www.nlm.nih.gov/medlineplus/ency/article/000156.htm. Accessed 2/13/2008.
- Jody L Kujovich. Factor V Leiden Thrombophilia. GeneReviews. March 9, 2010; https://www.ncbi.nlm.nih.gov/books/NBK1368/#factor-v-leiden.Diagnosis. Accessed 7/13/2011.
- Learning About Factor V Leiden Thrombophilia. National Human Genome Research Institute (NHGRI). December 2010; https://www.genome.gov/15015167.
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