Factor v leiden thrombophilia

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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   in the F5 gene. This gene plays a role in how your body forms blood clots after an injury. People can inherit one or two copies of the factor V Leiden gene mutation.

Symptoms

People with factor V Leiden thrombophilia have a higher risk for blood clots. However, the severity of factor V Leiden thrombophilia varies greatly from person to person. Only 5% of people with one factor V Leiden  develop a clot by age 65.

The chance a person with a factor V Leiden  mutation develops a blood clot is affected by a number of factors, such as having a  of clots, a second factor V Leiden gene mutation, a second genetic or acquired blood clotting disorder, and other non-genetic .  Non-genetic risk factors include surgery, long periods of not moving (like sitting on a long airplane ride), birth control pills and other female , childbirth within the last 6 months, non-O blood group, , and injuries (such as bone fractures).

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  and spleen to the liver, veins carrying blood away from the liver, and veins supplying the brain. Factor V Leiden thrombophilia may contribute a small amount of risk toward a heart attack, stroke, or pregnancy complication.

Cause

Factor V Leiden thrombophilia is caused by a specific  in the F5 or Factor V . F5 plays a critical role in the formation of blood clots in response to injury.  Genes are our body’s instructions for making . F5 instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A  called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.[1][2] Factor V Leiden gene mutations cause factor V to be inactivated more slowly than normal. This leaves more time for blood clots to form.

Inheritance

We all inherit two copies of the F5 (factor V) . We inherit one copy from our mother and the other from our father. As a result, our risk for having factor V Leiden thrombophilia depends on the genetic status of each of our parents.

Most people with factor V Leiden thrombophilia have one "normal" F5 gene and one with the factor V Leiden gene . People with one copy of the mutation are called . Assuming this person and a person without the mutation have a child, this couple would have a 50%, or 1 in 2 chance of having a child with a single F5 mutation.

Factor V Leiden thrombophilia is a relatively common condition. In some families, both parents have the F5 mutation. In this scenario, each child of the couple would have a 25% or 1 in 4 chance of having two mutations, a 25% chance of having no mutation, and a 50% chance of having a one mutation.

People with two copies of the F5 mutation are said to be "homozygotes." They will always pass one copy of the mutated gene to their children. A child's risk for a second  mutation will depend on whether or not his or her other parent has the F5 mutation.

Diagnosis

A diagnosis of factor V Leiden thrombophilia may be considered in people with a notable personal or  of venous thromboembolism (VTE), such as having a VTE at an atypically young age, in an unusual location, or having multiple VTEs. A doctor may confirm the diagnosis by ordering a genetic or APC resistance test. Alternatively, it is becoming more common for people to learn they have a factor V Leiden  from an advertised genetic test they purchased directly.

The APC (activated  C) resistance assay, a coagulation  test, measures the anticoagulant response to APC. This screening test has a sensitivity and specificity for factor V Leiden approaching 100%. The sensitivity of a test is a measure of the test's ability to detect a positive result when someone has the condition, while the specificity is a measure of the test's ability to identify negative results.

Targeted mutation analysis (a type of  test) of the F5 gene for the Leiden mutation is considered definitive and has a mutation detection frequency of approximately 100%. This means that approximately all individuals who have the factor V Leiden mutation will be detected by this genetic test. It is generally recommended that individuals who test positive by another means should then have the DNA test both for confirmation and to distinguish  (individuals with a mutation in one copy of the gene) from homozygotes (individuals with mutations in both copies of the gene).

Treatment

Treatment of factor V Leiden thrombophilia varies depending on the patient's medical history and current circumstances.

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.

Statistics

The factor V Leiden mutation is the most common inherited risk factor for abnormal blood clotting in the United States. Factor V Leiden mutations are estimated to be carried by:

5% of Caucasians

2% of Hispanic Americans

1% Native Americans

1% African Americans

0.5% Asian Americans

In addition, up to 14% of people in populations from Greece, Sweden, and Lebanon are thought to carry factor V Leiden.

Having two factor V Leiden mutations is much rarer, affecting around 1 in 1,600 people. Genetic terms glossaries.

Glossary of Genetics | Glossary of genetic testing terms | Dictionary of genetics | Rare diseases

Common genetic disorders This list of genetic, orphan and rare diseases is provided for informational purposes only and is not comprehensive.

Common genetic disorders list A-Z Common genetic disorders list A-Z
* achondroplasia * alpha-1 antitrypsin deficiency
* antiphospholipid syndrome * attention deficit hyperactivity disorder
* autism * autosomal dominant polycystic kidney disease
* breast cancer * charcot-marie-tooth disease
* colon cancer * cri du chat syndrome
* crohn's disease * cystic fibrosis
* dercum disease * down syndrome
* duane syndrome * duchenne muscular dystrophy
* factor v leiden thrombophilia * familial hypercholesterolemia
* familial mediterranean fever * fragile x syndrome
* gaucher disease * hemochromatosis
* hemophilia * holoprosencephaly
* ​huntington's disease * inborn errors of metabolism
* klinefelter syndrome * marfan syndrome
* ​methylmalonic acidemia * myotonic dystrophy
* neurofibromatosis * noonan syndrome
* osteogenesis imperfecta * parkinson's disease
* phenylketonuria * poland anomaly
* porphyria * progeria
* prostate cancer * retinitis pigmentosa
* severe combined immunodeficiency * sickle cell disease
* skin cancer * spinal muscular atrophy
* tay-sachs disease * thalassemia
* trimethylaminuria * turner syndrome
* velocardiofacial syndrome * wilson disease

A-Z of Genetic Diseases (External)

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