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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 ( or lungs (. Factor V Leiden is the name of a specific gene mutation in the 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. 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 mutation develop a clot by age 65. The chance a person with a factor V Leiden gene mutation develops a blood clot is affected by a number of factors, such as having a family history of clots, a second factor V Leiden gene mutation, a second genetic or acquired blood clotting disorder, and other non-genetic risk factors. Non-genetic risk factors include surgery, long periods of not moving (like sitting on a long airplane ride), birth control pills and other female hormones, childbirth within the last 6 months, non-O blood group, cancer, and injuries (such as bone fractures). The most common type of blood clots associated with factor V Leiden thrombophilia, are.
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. To learn more about the symptoms of DVT and PE,. While less common, other possible sites of blood clots, include superficial veins of the leg, veins carrying blood from the digestive organs 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. Factor V Leiden thrombophilia is caused by a specific mutation in the F5 or Factor V gene. F5 plays a critical role in the formation of blood clots in response to injury. Genes are our body’s instructions for making proteins.
Press R, Bauer K, Kujovic J, et al. Clinical utility of factor V Leiden (R506Q) for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med. 2002; 126: 1304–1318. Medline Google Scholar.
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 molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V. Factor V Leiden gene mutations cause factor V to be inactivated more slowly than normal. This leaves more time for blood clots to form. We all inherit two copies of the F5 (factor V) gene. 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 mutation. People with one copy of the mutation are called heterozygotes. 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. 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 or 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 risk factors.
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. 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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide,. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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. 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. provides information on this topic.
You may need to register to view the medical textbook, but registration is free. 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.
Factor V Leiden 5 Wild Pregnant
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. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy.
If you do not want your question posted, please let us know. I was diagnosed with factor V Leiden before I got pregnant. I am currently 38 weeks pregnant, and have never had a miscarriage nor have I had any VTE events. Even though I am only heterozygous and never had a clotting event before, it is apparently recommended that I be induced at 39 weeks. Who recommends this?
Is the risk that high for a person to have to be induced at 39 weeks for a person who has never had a thrombotic event before?. My sister has factor V Leiden, but I do not.
Does this mean we are half sisters? There is some question regarding my sister's parentage.
Living With Factor V Leiden
How does factor V Leiden affect a diabetic person (type 1)? What is the link between elevated Activated Protein C and Factor V Leiden? Are there symptoms that would indicate if a person has a clot? Are there any treatments?.
I have been diagnosed with Factor 5 Leiden. Is it unusual that I bruise easily? I would have expected the opposite.
I have been tested twice so I know the diagnosis must be correct. Factor V Leiden runs in my family. My sister is now battling acute promyelocytic leukemia. Are these two conditions issues linked?
Can Factor V Leiden bring on leukemia? Are they related in any way, shape, or form?. Wondering if there is a connection between factor V Leiden and breast cancer?
I have read that many people with breast cancer have factor V Leiden, but wondering which came first? I have asked many people and no one seems to have the answer. I am heterozygous for a factor V Leiden mutation. I was on oral contraceptives for 10 years before trying to get pregnant. After two miscarriages, I was tested and I found out that I had this condition.
I saw where you discuss oral contraceptives; but I didn't know if an IUD such as Mirena may be safer to use than an oral contraceptives?. I have factor V Leiden and was wondering if it's safe to use oral contraceptives. I want to take the pill called Levlin.
What is the name of the test that would be used to diagnose this condition? Is there more than one test? Most importantly, how accurate is this test for both positive and negative results?. My grandmother on my dad's side has two copies of the factor V Leiden gene mutation. I have one copy.
Factor V Leiden Ibuprofen
Do I need to go and see a hematologist to get on blood thinners, or is there really nothing that they would do since I only have the one copy? Also, if I have one copy does that mean that my father has two copies of it or could he possibly have only the one copy as well?. My husband has factor V Leiden. How could he have this when nobody else in his family has it including his parents? Is this disorder always passed down or can it skip a generation?.
Factor V Leiden thrombophilia. Genetics Home Reference.
August 2010;. Kujovich J.
Factor V Leiden thrombophilia. MacCallum P, Bowles L, Keeling D. Diagnosis and management of heritable thrombophilias. 2014; 349:g4387. Accessed 8/23/2017.
Factor V Leiden and activated protein C resistance: Clinical manifestations and diagnosis. In: Leung LLK ed. Waltham, MA: UpToDate; 2015;. Deep venous thrombosis. Accessed 2/13/2008.
Learning About Factor V Leiden Thrombophilia. National Human Genome Research Institute (NHGRI). December 2010;.
Factor V Leiden Test: Why Is This Test Important Some of us may have heard of Factor V Leiden and know what this is all about. On the other hand, others may not be so sure. If you are among those who know what this is, keep reading for the amusement factor. However, if you are among those who think that Factor V Leiden is a pianist from the 19 th century, keep reading.
You need to know better! Perhaps the best approach to talk about the Factor V Leiden Test and its importance is from the very basics. Let’s start with thrombophilia and build from there. What is thrombophilia? Thrombophilia is defined as an increased tendency to form abnormal blood clots that can block blood vessels. Think of it this way: people with thrombophilia have thicker blood than your average person that can clot much easier.
A blood clot is actually the body’s repair mechanism to repair damage to either an artery or a vein. It is an accumulation of platelets (tiny blood cells) in the blood to stop bleeding. However, a clot is a blockage of the blood flow in the body and that is not a good thing. So, while blood clots are inherently protective, the outcome is negative and even painful. Thrombophilia is a by a mutation, which is where Factor V Leiden comes into play. Factor V Leiden Factor V Leiden is the name of a specific gene mutation that causes thrombophilia. It is also the most common inherited form of thrombophilia.
Anywhere from 3% to 8% of Europeans have one copy of the mutation and an estimated one in every 5,000 people have two copies. People who have the mutation are at a much higher risk of developing a specific type of blood clot called deep venous thrombosis that most frequently occur in the legs. However, they are known to occur in other parts of the body such as the brain, eyes, liver as well as kidneys. This type of thrombophilia that is associated with Factor V Leiden is especially cruel as increases the chances that the clots will come loose from their original site and travel through the bloodstream from where they can get stuck in the lungs.
This is also referred to as pulmonary embolism. This all sounds very horrifying, I know. However, not everyone with the mutation actually develops blood clots. Even though they are at a higher risk of developing clots, only 10% of those with the mutation go on to develop abnormal clots. Most probably the biggest issue with this mutation is among pregnant women (see below). Genetics and Other Factors Factor V Leiden thrombophilia is caused by a mutation in the F5 gene that is responsible for making a protein called coagulation factor V. Coagulation factor V is a protagonist in the coagulation system, which is the savior mechanism responsible for forming blood clots in response to injury.
The mutation is recessive, which means that two copies are necessary for a person to actually suffer from Factor V Leiden thrombophilia., lifestyle is a big issue when it comes to Factor V Leiden thrombophilia. Obesity, increasing age, injury, smoking, surgery, pregnancy as well as oral contraceptives and hormone replacement therapy are all factors that have all been associated with higher risks of this kind of thrombophilia. Factor V Leiden and Pregnancy is associated with the risk of miscarriage. In fact, pregnant women who have this mutation are about two to three times more likely to suffer multiple miscarriages or pregnancy loss during the second or third trimester.
As if that is not bad enough, several studies have shown that there are several other risks associated with the mutation. These include pregnancy-induced high blood pressure (preeclampsia), early separation of the placenta from the uterus (placental abruption) as well as slow fetal growth or intrauterine growth restriction. However, it should be highlighted that these studies have to be replicated so that these findings can be confirmed.
Conclusion So, to wrap things up, we need to answer the question, “Why is this test important?” The guidelines for testing considerations are straightforward. Those who have venous thrombosis under the age of 50, those who have recurrent venous thrombosis as well as family history of it, female smokers who suffered myocardial infarction under the age of 50, venous thrombosis in pregnant women or those taking oral contraceptives, women with recurrent pregnancy loss, unexplained severe preeclampsia, placental abruption as well as intrauterine fetal growth restriction are all individuals who can benefit from the test. However, some research has has been overused with little to no benefits. The claim is that finding out about having this mutation actually does not cause any change in people’s lifestyles.
Furthermore, knowing that they have the mutation may only result in unnecessary worrying because so few people who actually carry the mutation develop the disease. This all holds true for those who are not at risk for who are at a risk but either do not plan on becoming pregnant or are not pregnant. However, given the problems it causes in pregnant women, the importance of the test becomes clear quickly. Surely, if a pregnant woman knew before her pregnancy that she is at a higher risk of thrombophilia because she has the mutation, she could take all the necessary precautions before getting pregnant in order to have a healthy pregnancy. There are medications that are given to those who have thicker blood so that they avoid possible pregnancy complications.