Factor V Leiden thrombophilia: MedlinePlus Genetics (2024)

Description

Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels.

People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream. These clots can lodge in the lungs, where they are known as pulmonary emboli. Although factor V Leiden thrombophilia increases the risk of blood clots, only about 10 percent of individuals with the factor V Leiden mutation ever develop abnormal clots.

The factor V Leiden mutation is associated with a slightly increased risk of pregnancy loss (miscarriage). Women with this mutation are two to three times more likely to have multiple (recurrent) miscarriages or a pregnancy loss during the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, the association between the factor V Leiden mutation and these complications has not been confirmed. Most women with factor V Leiden thrombophilia have normal pregnancies.

Frequency

Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations.

Causes

A particular mutation in the F5 gene causes factor V Leiden thrombophilia. The F5 gene provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury.

The coagulation system is controlled by several proteins, including a protein called activated protein C (APC). APC normally inactivates coagulation factor V, which slows down the clotting process and prevents clots from growing too large. However, in people with factor V Leiden thrombophilia, coagulation factor V cannot be inactivated normally by APC. As a result, the clotting process remains active longer than usual, increasing the chance of developing abnormal blood clots.

Other factors also increase the risk of developing blood clots in people with factor V Leiden thrombophilia. These factors include increasing age, obesity, injury, surgery, smoking, pregnancy, and the use of oral contraceptives (birth control pills) or hormone replacement therapy that contains estrogen. The risk of abnormal clots is also much higher in people who have a combination of the factor V Leiden mutation and another mutation in the F5 gene. Additionally, the risk is increased in people who have the factor V Leiden mutation together with a mutation in another gene involved in the coagulation system.

Learn more about the gene associated with Factor V Leiden thrombophilia

Inheritance

The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000.

Other Names for This Condition

APC resistance, Leiden type
Hereditary resistance to activated protein C

Additional Information & Resources

Genetic Testing Information

Genetic Testing Registry: Thrombophilia due to activated protein C resistance

Genetic and Rare Diseases Information Center

Factor V Leiden thrombophilia

Patient Support and Advocacy Resources

National Organization for Rare Disorders (NORD)

Clinical Trials

ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

Scientific Articles on PubMed

PubMed

References

Calderwood CJ, Greer IA. The role of factor V Leiden in maternal health andthe outcome of pregnancy. Curr Drug Targets. 2005 Aug;6(5):567-76. doi:10.2174/1389450054546024. Citation on PubMed
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA; ACMG Factor V. LeidenWorking Group. American College of Medical Genetics consensus statement on factorV Leiden mutation testing. Genet Med. 2001 Mar-Apr;3(2):139-48. doi:10.1097/00125817-200103000-00009. No abstract available. Erratum In: Genet Med.2021 Dec;23(12):2463. doi: 10.1038/s41436-021-01108-x. Citation on PubMed or Free article on PubMed Central
Horne MK 3rd, McCloskey DJ. Factor V Leiden as a common genetic risk factorfor venous thromboembolism. J Nurs Scholarsh. 2006;38(1):19-25. doi:10.1111/j.1547-5069.2006.00072.x. Citation on PubMed
Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and therisk for venous thromboembolism in the adult Danish population. Ann Intern Med.2004 Mar 2;140(5):330-7. doi: 10.7326/0003-4819-140-5-200403020-00008. Citation on PubMed
Major DA, Sane DC, Herrington DM. Cardiovascular implications of the factor VLeiden mutation. Am Heart J. 2000 Aug;140(2):189-95. doi:10.1067/mhj.2000.108241. No abstract available. Citation on PubMed
Mann KG, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood.2003 Jan 1;101(1):20-30. doi: 10.1182/blood-2002-01-0290. Epub 2002 Aug 8. Noabstract available. Citation on PubMed
Ornstein DL, Cushman M. Cardiology patient page. Factor V Leiden. Circulation.2003 Apr 22;107(15):e94-7. doi: 10.1161/01.CIR.0000068167.08920.F1. No abstractavailable. Citation on PubMed
Pastori D, Menichelli D, Valeriani E, Pignatelli P. Factor V LeidenThrombophilia. 1999 May 14 [updated 2024 May 16]. In: Adam MP, Feldman J, MirzaaGM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.GeneReviews(R) [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1368/ Citation on PubMed
Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost.2009 Jul;7 Suppl 1:301-4. doi: 10.1111/j.1538-7836.2009.03394.x. Citation on PubMed
Rosendorff A, Dorfman DM. Activated protein C resistance and factor V Leiden:a review. Arch Pathol Lab Med. 2007 Jun;131(6):866-71. doi:10.5858/2007-131-866-APCRAF. Citation on PubMed
Segal JB, Brotman DJ, Necochea AJ, Emadi A, Samal L, Wilson LM, Crim MT, BassEB. Predictive value of factor V Leiden and prothrombin G20210A in adults withvenous thromboembolism and in family members of those with a mutation: asystematic review. JAMA. 2009 Jun 17;301(23):2472-85. doi: 10.1001/jama.2009.853. Citation on PubMed

Factor V Leiden thrombophilia: MedlinePlus Genetics (2024)

FAQs

What is the greatest risk factor for factor V Leiden? ›

These factors include increasing age, obesity, injury, surgery, smoking, pregnancy, and the use of oral contraceptives (birth control pills) or hormone replacement therapy that contains estrogen.

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How hereditary is factor 5 Leiden? ›

If you have factor V Leiden, you inherited either one copy or, rarely, two copies of the defective gene. Inheriting one copy slightly increases your risk of developing blood clots. Inheriting two copies — one from each parent — significantly increases your risk of developing blood clots.

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What is the inheritance pattern of Factor V Leiden thrombophilia? ›

Factor V Leiden is an inherited blood clotting disorder that raises your risk of deep vein thrombosis or a pulmonary embolism. A mutation in your F5 gene causes this disorder, which follows an autosomal dominant inheritance pattern. Most people with this disorder never develop a blood clot.

What should you avoid if you have factor 5? ›

If your factor V Leiden requires you to take anticoagulant medication, here are some steps that might help you prevent injury and avoid excessive bleeding:

Avoid playing contact sports or engaging in other activities that could result in physical injury. ...
Use a soft toothbrush and waxed floss.

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Aug 23, 2022

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What medications should be avoided with factor V Leiden? ›

It is important that people with Factor V deficiency should not use Non-Steroidal Anti-Inflammatory Drugs (NSAIDs such as ibuprofen) as this greatly increases the risk of bleeding.

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Should people with factor V Leiden take aspirin? ›

Even people with two abnormal copies of the gene usually do not receive medication unless they have a history of a blood clot. Based on your age, it may be appropriate for you to be on aspirin, from the standpoint of your heart, regardless of the factor V Leiden.

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Can you have factor V Leiden if neither parent has it? ›

The different gene that makes the factor V Leiden protein is inherited from one or both parents.

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Is there a difference between factor 5 and factor 5 Leiden? ›

Factor V Leiden is a common change in a gene that controls a protein called Factor V. Factor V is a protein involved in blood clotting and the Factor V Leiden gene change (also called mutation) is linked to an increase risk of blood clots.

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Will all siblings have factor V in Leiden? ›

In most cases, the mother and father of this person will each have one normal gene and one Factor 5 Leiden gene. The brothers or sisters of this person might have: Two copies of the Factor 5 Leiden gene (a 25% chance) One copy like the parents (a 50% chance)

What is the most inherited thrombophilia? ›

Factor V Leiden thrombophilia is the most common inherited form of thrombophilia. The prevalence in the US and European general populations is 3-8% for one copy of the factor V Leiden mutation; about 1:5000 persons have two copies of the mutation (1).

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What is the best blood thinner for factor V Leiden? ›

For patients with confirmed deep vein thrombosis or pulmonary embolism, anticoagulant therapy with subcutaneous low molecular-weight heparin, monitored IV, or subcutaneous unfractionated heparin or fondaparinux can be used [5].

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Who is a carrier of factor V Leiden? ›

Approximately 5% of the Caucasian population carries at least one Factor V Leiden gene. It is less common in other ethnic groups. Having one or two copies of the Factor V Leiden gene does not guarantee abnormal clots will form because other circ*mstances are involved.

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Should you wear a medical bracelet for factor V in Leiden? ›

Let doctors you see know that you have factor V Leiden. Wear medical alert jewelry that lists your clotting problem. You can buy it online or at most drugstores. Check with your doctor about whether you should use hormone forms of birth control or hormone therapy.

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Can you fly with factor V in Leiden? ›

If you are in bed at home recovering from an injury or surgery, ask your doctor how often you should move around or do exercises. If you are on a long car trip, stop every hour or so. Get out and walk around for a few minutes. If you are travelling by bus, train, or plane, walk up and down the aisle every hour or so.

Can you donate blood if you have factor V Leiden? ›

Donors with clotting disorder from Factor V who are not on anticoagulants are eligible to donate; however, all others must be evaluated by the health historian at the collection center.

Is factor V Leiden dominant or recessive? ›

Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, meaning that not every person with the mutation will develop the disease.

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What are the chances of passing on factor V Leiden? ›

Can I pass on Factor V Leiden? Yes, you can pass on the gene for this disorder to your children. If you have the heterozygous type, there is a 50% chance that your child will inherit a Factor V Leiden gene from you. There is also a 50% chance that your child will inherit your normal Factor V gene.

Does factor 5 Leiden increase risk of stroke? ›

Thus, the factor V leiden mutation is one of the important cause of ischemic stroke in young patients. The management of patients with factor V leiden mutation depends on recurrence of thromboembolic events, family history and associated risk factors i.e. use of oral contraceptive pills, smoking, obesity, etc.

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