Factor V Leiden

Jump to navigation Jump to search
Factor V Leiden
ICD-9 289.81
DiseasesDB 154

WikiDoc Resources for Factor V Leiden


Most recent articles on Factor V Leiden

Most cited articles on Factor V Leiden

Review articles on Factor V Leiden

Articles on Factor V Leiden in N Eng J Med, Lancet, BMJ


Powerpoint slides on Factor V Leiden

Images of Factor V Leiden

Photos of Factor V Leiden

Podcasts & MP3s on Factor V Leiden

Videos on Factor V Leiden

Evidence Based Medicine

Cochrane Collaboration on Factor V Leiden

Bandolier on Factor V Leiden

TRIP on Factor V Leiden

Clinical Trials

Ongoing Trials on Factor V Leiden at Clinical Trials.gov

Trial results on Factor V Leiden

Clinical Trials on Factor V Leiden at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Factor V Leiden

NICE Guidance on Factor V Leiden


FDA on Factor V Leiden

CDC on Factor V Leiden


Books on Factor V Leiden


Factor V Leiden in the news

Be alerted to news on Factor V Leiden

News trends on Factor V Leiden


Blogs on Factor V Leiden


Definitions of Factor V Leiden

Patient Resources / Community

Patient resources on Factor V Leiden

Discussion groups on Factor V Leiden

Patient Handouts on Factor V Leiden

Directions to Hospitals Treating Factor V Leiden

Risk calculators and risk factors for Factor V Leiden

Healthcare Provider Resources

Symptoms of Factor V Leiden

Causes & Risk Factors for Factor V Leiden

Diagnostic studies for Factor V Leiden

Treatment of Factor V Leiden

Continuing Medical Education (CME)

CME Programs on Factor V Leiden


Factor V Leiden en Espanol

Factor V Leiden en Francais


Factor V Leiden in the Marketplace

Patents on Factor V Leiden

Experimental / Informatics

List of terms related to Factor V Leiden

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Factor V Leiden (sometimes Factor VLeiden) is the name given to a variant of human factor V that causes a hypercoagulability disorder. In this disorder the Leiden variant of factor V, cannot be inactivated by activated protein C. Factor V Leiden is the most common hereditary hypercoagulability disorder amongst Eurasians. It is named after the city Leiden (The Netherlands), where it was first identified in 1994 by Prof R. Bertina et al.


In the normal person, factor V functions as a cofactor to allow factor X to activate an enzyme called thrombin. Thrombin in turn cleaves fibrinogen to fibrin, which polymerizes to form the dense meshwork that makes up the majority of a clot. Activated protein C (aPC) is a natural anticoagulant that acts to limit the extent of clotting by cleaving and degrading factor V.

Factor V Leiden is an autosomal dominant condition in which the coagulation factor cannot be destroyed by aPC. Mutation of the gene encoding factor V—a single nucleotide substitution of adenine for guanine—changes the protein's 506th amino acid from arginine to glutamine . Since this amino acid is normally the cleavage site for aPC, the mutation prevents efficient inactivation of factor V. When factor V remains active, it facilitates overproduction of thrombin leading to excess fibrin generation and excess clotting.

The excessive clotting that occurs in this disorder is almost always restricted to the veins, where the clotting may cause a deep vein thrombosis (DVT). If the venous clots break off, these clots can travel through the heart to the lung, where they block a pulmonary blood vessel and cause a pulmonary embolism. Women with the disorder have an increased risk of miscarriage and stillbirth. This disorder does not increase the formation of clots in arteries that can lead to stroke or heart attack, though a "mini-stroke" known as a transient ischemic attack may occur.


Studies have found that about 5% of caucasians in North America have factor V Leiden. The disease is less common in Hispanics and African-Americans and is extremely rare in people of Asian descent.

Up to 30% of patients who present with deep vein thrombosis (DVT) or pulmonary embolism have this condition. Factor V Leiden doubles the risk that a person will have a DVT during their life, but it is unclear whether these individuals are at increased risk for recurrent a venous thrombosis. While only 1% of people with factor V Leiden have two copies of the defective gene, these homozygous individuals have a more severe clinical condition. The presence of acquired risk factors for venous thrombosis -- including smoking, use of estrogen-containing (combined) forms of hormonal contraception use, and recent surgery -- further increase the chance that an individual with the factor V Leiden mutation will develop DVT.

Women with Factor V Leiden have a substantially increased risk of clotting in pregnancy (and on estrogen containing birth control pills or hormone replacement) in the form of deep vein thrombosis and pulmonary embolism. They also have an increased risk of preeclampsia, as well as miscarriage and stillbirth due to clotting in the placenta, umbilical cord, or the fetus (fetal clotting may depend on whether the baby has inherited the gene). Note that many of these women go through one or more pregnancies with no difficulties, while others may miscarry over and over again, and still others may develop clots within weeks of becoming pregnant.


Suspicion of factor V Leiden being the cause for any thrombotic event should be considered in any white patient below the age of 45, or in any person with a family history of venous thrombosis.

This disease can be diagnosed by watching the aPTT (the time it takes for blood to clot) as activated protein C is added. With a normal patient, adding aPC increases the APTT. In patients with factor V Leiden, adding aPC will barely affect the time it takes for blood to clot.

There is also a simple genetic test that can be done for this disorder. The mutation (a 1691G→A substitution) removes a cleavage site of the restriction endonuclease MnlI, so simple PCR, treatment with MnlI, and then DNA electrophoresis will give a quick diagnosis.


  • Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7. PMID 8164741.

External links

Template:WH Template:WikiDoc Sources de:Faktor-V-Leiden nl:Factor V Leiden