Disclaimer: The author of the content below is not a medical professional and does not have any medical training. As such, the contents on this page, including text, graphics, images, and any other material are for informational purposes only. The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Our full medical disclaimer<\/a> can be found by clicking here<\/a>.<\/span><\/em><\/p>\r\n In my Cerebral Palsy<\/a> and Pediatric Stroke<\/a> articles, I mentioned that James has factor V Leiden, which is a blood clotting disorder that causes an increased risk of blood clots. It was my belief that all of James\u2019 issues were caused by factor V Leiden. I am not a doctor and have no medical training, but I thought that is just made sense. In my mind, the chain of events went something like this: factor V Leiden caused James to have a blood clot; that blood clot traveled to his brain which caused him to have a stroke in utero; that stroke, in turn, caused a whole list of other issues including:<\/p>\r\n\r\n\r\n\r\n When the NICU doctor told us about the factor V Leiden diagnosis, she gave us a brief synopsis of what it was. We later turned to the Internet to find out more information about it. In this article, I will answer the main questions that Stacy and I had when we first learned that James had factor V Leiden. This article is a bit long, so you have a couple of option. You can read (or skim) it from top to bottom; or if you are looking for an answer to a particular question in the list below, simply click on the question and you will be taken directly to the answer to that question. Then if you want to return to the list of questions, simply hit the back button in your browser.<\/p>\r\n <\/p>\r\n\r\n\r\n\r\n What is a blood clot?<\/span><\/strong><\/a><\/p>\r\n What is factor V Leiden?<\/span><\/strong><\/a><\/p>\r\n What causes factor V Leiden?<\/span><\/strong><\/a><\/p>\r\n What are the symptoms of factor v Leiden?<\/span><\/strong><\/a><\/p>\r\n How is factor V Leiden diagnosed?<\/span><\/strong><\/a><\/p>\r\n Are there any available cures or treatments for factor V Leiden?<\/span><\/strong><\/a><\/p>\r\n What lifestyle changes or precautions should someone with factor V Leiden take?<\/span><\/strong><\/a><\/p>\r\n\r\n <\/a> \u00a0<\/p>\r\n\r\n Because factor V Leiden is a blood clotting disorder, it would be remiss of me not to briefly discuss what a blood clot is. Mayo Clinic<\/a> defines blood clots as \u201cgel-like clumps of blood. They are beneficial when they form in response to an injury or a cut, plugging the injured blood vessel, which stops bleeding. Some blood clots form inside your veins without a good reason and don’t dissolve naturally. These may require medical attention, especially if they are in your legs or are in more critical locations, such as your lungs and brain. A number of conditions can cause this type of blood clot.\u201d<\/p>\r\n Think of a time when you got a small cut or a scrape on your skin and it bled? Did continue to bleed or did it eventually stop and form a scab? It scabbed over, didn\u2019t it? Well, that scab is actually a blood clot. It\u2019s one of our body\u2019s defense mechanisms to stop the bleeding and acts as protective layer against debris and infection. This is normal. When the blood clots inside your veins, however, \u00a0significant and sometimes fatal issues can arise. These clots, if not treated, have the tendency to travel through the bloodstream to other areas of the body where they can eventually block the flow of blood to the brain, lungs, eyes, liver, or kidneys.<\/p>\r\n <\/a> \u00a0<\/p>\r\n Mayo Clinic<\/a> says that \u201cfactor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs. Most people with factor V Leiden never develop abnormal clots. But in people who do, these abnormal clots can lead to long-term health problems or become life-threatening.\u201d<\/p>\r\n The US Genetic and Rare Disease (GARD) Information Center<\/a> describes factor V Leiden as \u201ca 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)<\/u> or lungs (pulmonary embolism or PE). Factor V Leiden is the name of a specific\u00a0gene\u00a0mutation\u00a0in the\u00a0F5<\/em><\/a>\u00a0gene. 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.\u201d<\/p>\r\n That last sentence is an important one. I was never that good of a student, but I do remember that we inherit half our genes from our mom, and the other half from our dad. After It was discovered that James has factor V Leiden, it was recommended that Stacy and I also get tested to see which one of us James inherited it from. It turns out that Stacy also has factor V Leiden; I do not. Because James only inherited it from Stacy, it is considered factor V Leiden heterozygous<\/strong>. If James inherited the factor V Leiden mutation from both of us, it would be called factor V Leiden homozygous<\/strong>. As you may have guessed, people who have factor V Leiden homozygous have more of a risk of developing abnormal blood clots than those that have factor V Leiden heterozygous.<\/p>\r\n <\/a> \u00a0<\/p>\r\n If you read the answer to the previous question, what is factor V Leiden, you learned that it is inherited from a person\u2019s parents. As Mayo Clinic<\/a> explains, \u201cif 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 \u2014 one from each parent \u2014 significantly increases your risk of developing blood clots.\u201d<\/p>\r\n But what actually causes factor V Leiden? The US National Library of Medicine Genetics Home Reference<\/a> explains that \u201ca particular mutation in the\u00a0F5<\/em>\u00a0gene causes\u00a0factor V Leiden thrombophilia. The\u00a0F5<\/span><\/em>\u00a0gene 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.\u201d<\/p>\r\n <\/a> \u00a0<\/p>\r\n As Mayo Clinic<\/a> explains, \u201cthe factor V Leiden mutation does not itself cause any symptoms. Since factor V Leiden is a risk for developing blood clots in the leg or lungs, the first indication that you have the disorder may be the development of an abnormal blood clot. Some clots do no damage and disappear on their own. Others can be life-threatening. Symptoms of a blood clot depend on what part of your body is affected.\u201d<\/p>\r\n Nationwide Children\u2019s Hospital<\/a> says something similar: \u201cThe vast majority of those affected with Factor V Leiden will never encounter a problem and most will never be aware they are affected. However, when abnormal clots do form, the symptoms can be severe. The exact set of symptoms depends on the location of the abnormal clot. Common locations include leg veins (especially in adults) and at the site of indwelling plastic catheters (IVs, central lines), which are common in children with underlying chronic health conditions. Clots at these locations may cause dysfunction of the associated catheter and painful swelling of the affected extremity. If a piece of this abnormal clot breaks off, it can float downstream and ultimately become trapped in the lung. This is called a pulmonary embolism. If the piece of clot is small, it may not cause a problem. However, if the clot piece is large, a pulmonary embolism may be life-threatening. Abnormal clots in the brain can also cause significant and potentially life-threatening problems.\u201d<\/p>\r\n <\/a> \u00a0<\/p>\r\n Factor V Leiden is somewhat rare, so it\u2019s not something that is normally tested for. According to the U.S. National Library of Medicine Genetics Home Reference<\/a>, \u201cbetween 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.\u201d<\/p>\r\n The factor V Leiden mutation is usually tested for only after an abnormal blood clot is discovered. After James was born they ran a bunch of tests to try and determine what happened to him and why he was the way that he was. It was through one of the blood tests they ran that they discovered that he has factor V Leiden.<\/p>\r\n If you are looking for a more in depth answer with plenty of medical jargon, this is what the Genetic and Rare Diseases (GARD) Information Center<\/a> has to say about diagnosing factor V Leiden: \u201cA diagnosis of factor V Leiden thrombophilia may be considered in people with a notable personal or\u00a0family history\u00a0of 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\u00a0gene\u00a0mutation\u00a0from an advertised genetic test they purchased directly.<\/p>\r\n \u201cThe APC (activated\u00a0protein\u00a0C) resistance assay, a coagulation\u00a0screening\u00a0test, 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. <\/a> \u00a0<\/p>\r\n Because factor V Leiden is a genetic mutation, there are not any cures. There are, however, some treatments that can reduce the risk of forming abnormal blood clots due to the factor V Leiden mutation. Mayo Clinic<\/a> says that \u201cdoctors generally prescribe blood-thinning medications to treat people who develop abnormal blood clots. This type of medicine usually isn’t needed for people who have the factor V Leiden mutation but who have not experienced abnormal blood clots. However, your doctor might suggest that you take extra precautions to prevent blood clots if you have the factor V Leiden mutation and are going to have surgery. These precautions might include:<\/p>\r\n James has had several surgeries in his short life. We always mention the factor V Leiden when going through the routine pre-op checklist with the doctors and nurses. I don\u2019t recall them ever giving him a blood thinner. However, they have used compression socks and the leg wraps. Because James can\u2019t walk, he obviously can\u2019t go for walks after surgery. Even though he only uses two of the four listed precautions, James has never had an abnormal blood clot during or after surgery.<\/p>\r\n <\/a> \u00a0<\/p>\r\n Although there is no cure for factor V Leiden, there are some things you can do to reduce the risk of blood clots. Here is a short list from Mayo Clinic<\/a>:<\/p>\r\n Mayo Clinic<\/a> also recommends the following steps to help prevent injury and avoid excessive bleeding if you are taking anticoagulant medication for factor V Leiden:<\/p>\r\n Hopefully this answered some of your questions about factor V Leiden. If you or a loved one has factor V Leiden, talk with your doctor about any questions or concerns you may have. And if you still have questions, or are looking for further information, please check out the links I have included below. Many of these sites I used for this article.<\/p>\r\n Disclaimer: The author of the content below is not a medical professional and does not have any medical training. As such, the contents on this page, including text, graphics, images,<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"nf_dc_page":"","footnotes":""},"_links":{"self":[{"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/pages\/801"}],"collection":[{"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/comments?post=801"}],"version-history":[{"count":33,"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/pages\/801\/revisions"}],"predecessor-version":[{"id":850,"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/pages\/801\/revisions\/850"}],"wp:attachment":[{"href":"https:\/\/capenotrequired.com\/wp-json\/wp\/v2\/media?parent=801"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}\r\n
What is a blood clot? <\/strong><\/h4>\r\n\r\n\r\n\r\n
What is factor V Leiden?<\/span><\/h4>\r\n
What causes factor V Leiden?<\/span><\/h4>\r\n
What are the symptoms of factor v Leiden?<\/span><\/h4>\r\n
How is factor V Leiden diagnosed?<\/span><\/h4>\r\n
\u201cTargeted mutation analysis (a type of\u00a0DNA\u00a0test) 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\u00a0heterozygotes\u00a0(individuals with a mutation in one copy of the gene) from homozygotes (individuals with mutations in both copies of the gene).\u201d<\/p>\r\nAre there any available cures or treatments for factor V Leiden?<\/h4>\r\n
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What lifestyle changes or precautions should someone with factor V Leiden take?<\/span><\/h4>\r\n
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Conclusion<\/span><\/h4>\r\n
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