Factor V Leiden thrombophilia

What is factor V Leiden thrombophilia?
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific mutation that results in thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels. People who have the factor V Leiden mutation are at somewhat higher than average risk for a type of clot that forms in veins, such as the deep veins of the legs (deep venous thrombosis), or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism). Most people with the factor V Leiden mutation never develop abnormal blood clots, however.
The factor V Leiden mutation is associated with a somewhat increased risk of pregnancy loss (miscarriage), and some research suggests that it may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with the factor V Leiden mutation have normal pregnancies.
How common is factor V Leiden thrombophilia?
Factor V Leiden is the most common inherited form of thrombophilia. Between 3 percent and 8 percent of the Caucasian (white) population in the United States and Europe 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.
What genes are related to factor V Leiden thrombophilia?
Mutations in the F5 gene cause factor V Leiden thrombophilia.
The F5 gene plays a critical role in the formation of blood clots in response to injury. The protein made by the F5 gene, 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. In people with the factor V Leiden mutation, APC is unable to inactivate factor V normally. As a result, the clotting process continues longer than usual, increasing the chance of developing abnormal blood clots.
Other factors also increase the risk of blood clots in people with the factor V Leiden mutation. These factors include increasing age, obesity, trauma, surgery, smoking, the use of oral contraceptives (birth control pills) or hormone replacement therapy, and pregnancy. The combination of the factor V Leiden mutation and mutations in other genes involved in blood clotting can also influence risk.
Read more about the F5 gene.
How do people inherit factor V Leiden thrombophilia?

The risk of developing a clot in a blood vessel depends on whether a person inherits one or two copies of the factor V Leiden mutation. Inheriting one copy of the mutation increases by fourfold to eightfold the chance of developing a clot. People who inherit two copies of the mutation, one from each parent, may have up to 80 times the usual risk of developing this type of blood clot. Considering that the risk of developing an abnormal blood clot averages about 1 in 1,000 people per year in the general population, the presence of one copy of the factor V Leiden mutation increases that risk to 4 to 8 in 1,000, and having two copies of the mutation may raise the risk as high as 80 in 1,000.

Grape juice and Clotting

Study: Grape juice could save dry Utahns' heartsA local study may show it has a similar benefit to red wineBy Heather May The Salt Lake TribuneIt's been shown that drinking red wine can reduce the risk of coronary heart disease. But not even the promise of a healthy heart will entice Utah teetotalers to imbibe. Grape juice - now that's a drink they can guzzle. Juice producers already say the Concord grapes used in grape juice may have the same heart benefits as those that make a pinot noir. Now, Utahns - a majority of whom belong to the LDS Church, which eschews alcohol - are helping prove or debunk the claim. "There's sufficient evidence for us to believe that there are similar components in the purple grape juice that may provide the same benefit" as wine, said Benjamin Horne, a cardiovascular clinical epidemiologist who is the principal investigator of Intermountain Healthcare's "Purple Grape Juice Study." Horne, who doesn't drink alcohol, came up with the idea at an American Heart Association meeting a couple of years ago. Welch Foods had a booth touting the health benefits of its grape juice, and Horne added it to his diet. When he combined it with aspirin, he noticed he bruised more easily and his blood didn't clot as quickly if he was scratched. He decided to investigate whether the juice affects blood clotting. If it, like aspirin, keeps the blood thin - thus preventing clogged arteries - that could reduce drinkers' risk of heart attacks, he said. "If you are routinely using grape juice and it's thinning your blood a little bit, you would have this naturally protective factor . . . that is helping to reduce your risk of heart attack," he said. Welch is one of the study funders, along with Deseret Foundation, an arm of Intermountain. Welch provides the juice and a placebo that smells, looks and tastes like juice but doesn't contain its antioxidants, called polyphenols. Participants must drink about 10 ounces a day, depending on their weight, for three months. Neither the researchers nor the 100 participants know what they're drinking. Results should be in by the beginning of 2009. A 2000 Danish study found red wine drinkers had half the risk of dying from heart disease. And a 2001 London study showed red wine inhibits a protein that can lead to coronary atherosclerosis. While some studies suggest it is the alcohol in the wine that protects the heart, others pinpoint the antioxidants, including resveratrol and flavonoids, found in the grapes. Short-term studies in humans and mice have suggested similar benefits with grape juice. The Utah study is different because it involves more patients, as well as more time for the possible benefits of the juice to accumulate. "One of the most remarkable things about the French paradox, where they eat a higher-fat diet in France but they also drink a glass of red wine each day [and have healthier hearts], is they do it for a long period of time. It's more of a lifetime habit," Horne said. Similarly, "the effects [of grape juice] probably build up over time." Michelle Robinson, of Farmington, enrolled because, as a Mormon, she doesn't drink alcohol. "It would be nice to have [juice] as an alternative," she said.

Practical Steps to Minimize Risk of Blood Clots

Practical Steps to Minimize Risk
Try to maintain ideal body weight for your sex and height.
Stay active and try to get regular exercise through such activities as walking, bicycling, or swimming.
Avoid prolonged periods of immobility. For example, stop the car, get out, and walk around every few hours during a long trip. On an airplane, drink plenty of water to avoid dehydration, walk the aisles, and avoid alcohol. Wearing elastic stockings with a moderate level of compression (15 to 20 mm Hg) may prevent DVT from developing on long flights.
Don’t smoke.
If you have other chronic medical conditions, such as diabetes, high cholesterol, or congestive heart failure, work with your doctors to try to keep these problems under good control.
Let your doctors know that you have factor V Leiden so that they can administer blood thinners or provide you with mechanical compression boots for your legs if you are hospitalized or need surgery.

Factor V Leiden: Are there different types?

http://www.mayoclinic.com/health/factor-v-leiden/AN00900

I was recently diagnosed with factor V Leiden. My doctor says I tested positive for the heterozygous form of this disorder. What does that mean?
- Kim / Michigan

Mayo Clinic hematologist Ruben Mesa, M.D., and colleagues answer select questions from readers.
Answer
Factor V Leiden is a common inherited clotting disorder. There are two forms of this disorder — heterozygous and homozygous. Heterozygous is the more common of the two forms.
Factor V Leiden is caused by a gene mutation in clotting factor V. This mutation causes factor V to respond more slowly to protein C, an anti-clotting factor that normally controls the activity of factor V. As a result, people with factor V Leiden have an increased risk of blood clots (thrombophilia).
The gene responsible for the normal production of factor V has two copies. If you inherit only one copy of the defective gene, you are heterozygous. If you inherit two copies — one from each parent — you are homozygous. Those who are homozygous have a much greater risk of blood clots in veins deep within muscle (deep vein thrombosis) that may travel to the lungs (pulmonary embolism) than do those who are heterozygous.
Factor V Leiden may be detected by special blood tests. If blood clots develop, treatment may include anti-clotting (anticoagulant) medications, such as warfarin (Coumadin).

The Thrombophilias and Pregnancy

I will continue to add articles that were helpful to me and I hope they can be helpful to you.

http://www.marchofdimes.com/professionals/14332_9264.asp

What are the thrombophilias?The thrombophilias are a group of disorders that promote blood clotting. Individuals with a thrombophilia tend to form blood clots too easily, because their bodies make:
Too much of certain proteins, called blood clotting factors or
Too little of anti-clotting proteins that limit clot formation
Up to 1 in 5 people in the United States has a thrombophilia (1).
What are the symptoms of a thrombophilia?Most people with a thrombophilia have no symptoms. However, some will develop a thrombosis, a blood clot where it does not belong. Often, blood clots form in veins in the lower leg, causing swelling, redness and discomfort. This condition, called deep vein thrombosis, is often diagnosed with ultrasound or other imaging tests. Clots are generally treated with blood-thinning drugs.
Clots can become life-threatening if they break off and travel through the bloodstream to vital organs (called venous thromboembolism or VTE). When the VTE blocks blood vessels in the lungs (called a pulmonary embolus), it can cause serious breathing difficulties and sometimes death. VTEs that block blood vessels in the brain or heart can cause stroke or heart attack.
Clots are more likely to develop when a person with a thrombophilia has other risk factors, including immobilization (due to a bone fracture, for example), surgery, and a family history of VTE in a parent, sibling or child. Pregnancy and the postpartum period (up to six weeks after delivery) are other times of increased risk of VTE in women with a thrombophilia.
What are the risks of a thrombophilia during pregnancy?Most women with a thrombophilia have healthy pregnancies. However, pregnant women with a thrombophilia may be more likely than other pregnant women to develop a VTE or certain pregnancy complications. Some types of thrombophilias pose greater risks in pregnancy than others (1).
Even pregnant women without a thrombophilia may be more likely than non-pregnant women to develop a VTE. This is due to normal pregnancy-related changes in blood clotting that limit blood loss during labor and delivery. However, studies suggest that up to 80 percent of pregnant women who develop a pulmonary embolus or other VTE have an underlying thrombophilia (1). Pulmonary embolus is the leading cause of maternal death in the United States (2, 3).
The thrombophilias also may contribute to pregnancy complications including (1, 3):
Fetal loss. This may occur late in the first trimester (miscarriage) or in the second or third trimesters (stillbirth).
Placental abruption. In this condition, the placenta peels away from the uterine wall, partially or completely, before delivery. This can cause heavy bleeding that is dangerous for mother and baby.
Doctors believe that these problems may result from blood clots in placental vessels.
What are the most common types of thrombophilias?Most thrombophilias are inherited, though some can develop later in life. Two of the most common thrombophilias are called factor V Leiden and prothrombin mutations (1). These occur in 5 to 9 percent and 2 to 4 percent, respectively, of Caucasians, and are less common in African-Americans and rare in Asians (4). Both are inherited in an autosomal dominant pattern, meaning that an affected person needs to inherit the gene from only one parent. Each child of an affected parent has a 50 percent chance of inheriting the thrombophilia.
Mild hyperhomocysteinemia is another common thrombophilia. This condition is caused by a specific variation (mutation) in a gene called MTHFR. It is inherited in an autosomal recessive pattern. Affected individuals inherit a copy of the abnormal gene from each parent. They also are deficient in folic acid. There are no good estimates on the number of affected individuals in this country.
Some less common thrombophilias include antithrombin deficiency, protein C and protein S deficiencies. Each affects less than 1 percent of people in the United States (4).
Antiphospholipid syndrome (APS) is a thrombophilia that is not inherited, but develops later in life. The frequency of the disorder is not known, though it is more common in women than men (5, 6). In APS, the body appears to mistake certain proteins that attach to fats on the surface of cells as foreign substances and produces antibodies against them. These antibodies may damage blood vessels, leading to blood clots.
APS is considered an autoimmune disorder, like arthritis and systemic lupus erythematosus (SLE). (SLE affects many body systems, though early symptoms may include a facial rash and arthritis.) About one-third of women with SLE have antiphospholipid antibodies in their blood, which may contribute to their increased risk of pregnancy complications (6). While most individuals with APS are otherwise healthy, the disorder is believed to contribute to about 10 percent of repeated fetal deaths (5, 7).
How are the thrombophilias diagnosed?Doctors do blood tests to find out whether or not a person has a thrombophilia.
Which pregnant women should be tested for thrombophilias?All pregnant women who have had a blood clot should be offered testing, according to the American College of Obstetricians and Gynecologists (ACOG) (4). Doctors also may recommend testing if a woman has a family history of VTE before age 50 and/or a history of pregnancy complications, including two or more miscarriages, stillbirth or placental abruption due to undetermined causes (1, 4).
How is a thrombophilia treated during pregnancy?Some pregnant women with a thrombophilia are treated with a blood-thinning drug called heparin (given by injection one or more times daily) or a newer version of the drug called low-molecular weight heparin. These drugs do not cross the placenta and are safe for the baby. Low doses of aspirin also may be recommended along with heparin for some women with APS. Studies show that treatment helps prevent blood clots in the mother and may improve pregnancy outcomes (1, 4).
However, not all women with a thrombophilia need treatment during pregnancy. A woman and her health care provider should discuss her individual risks of blood clots and pregnancy complications and the severity of her thrombophilia before deciding whether or not she needs treatment. Heparin treatment does pose some risk of side effects, including bone loss and potentially dangerous blood changes. The risks appear lower with low-molecular weight heparin.
In general, treatment is not recommended for most pregnant women with one of the less severe thrombophilias (such as factor V Leiden or prothrombin mutations) who have no personal or family history of blood clots or pregnancy complications (1). The risk of VTE is less than 0.5 percent (1 in 200) in pregnant women with factor V Leiden with no personal or strong family history of VTE (2).
Most doctors recommend about six weeks of treatment after birth (when risk of blood clots may be highest) for women with a thrombophilia and a personal or strong family history of blood clots. Women with a known thrombophilia are generally treated with anti-clotting medications after a cesarean delivery.
Heparin or low-molecular weight heparin treatment is recommended throughout pregnancy and the postpartum period for women who have one of the more severe thrombophilias (such as antithrombin deficiency or more than one thrombophilia), even if they have not experienced any blood clots or pregnancy complications (1). Women with a thrombophilia who have a past history of blood clots are usually treated during pregnancy and the postpartum period.
Women with antiphospholipid syndrome are usually treated with heparin and low-dose aspirin (5). Studies suggest that the combination is more effective than either medication alone in preventing pregnancy loss (5).
Women with mild hyperhomocystinemia are usually treated with the B vitamin folic acid. Most doctors don't recommend treatment with heparin or low-molecular weight heparin unless they have a history of VTE or pregnancy complications and the levels of a substance called homocysteine in the blood remain high despite folate therapy (1).
After delivery, women with a thrombophilia may be treated with an oral blood-thinning drug called warfarin, in addition to, or instead of, heparin. Warfarin is considered safe during breastfeeding, but it is not recommended during pregnancy because it can cause birth defects. Doctors usually recommend that women continue treatment with blood-thinning drugs for at least six weeks after delivery (1).

Getting Tested

So, after finding out my dad was heterozygous carrier of factor V Leiden, I wanted to be tested. That is just how I am. I went the next day and had my blood drawn. They took one small tube of blood and I was done. A week later I was back at the doctors because my son had broken his arm. While there they recieved my test results back.

I am a homozygous carrier of Factor V Leiden. My inital reaction was, no way! You are wrong. That means my mom is a carrier. But he assured me the test was right and my mom had to be a carrier. He basically told me it was no big deal, take fish oil each day, stay skinny and have a great life.

My family was shocked and the rest of my siblings went in and got tested. Well, all but my sister who is in Russia. So far the results have been: my older brother is hetero and my two younger sisters are negative.

My Dad is Factor V

Two months ago my dad got a blood clot in his leg. His calf got huge! Add in the pain and they knew something wasn't right. They put him on blood thinners and sent him home. After a few weeks he found out he had a mutant DNA gene that is named Leiden Factor V. He is hetro, which means he has one normal gene and one mutant gene. This mutant gene (which is a dominant gene) gives him a 7% increase chance of getting a blood clot. So now we know why he has the clot.

We were so relieved to find out that he only had one. This meant us as children had less of a chance to inherit this mutant gene. I found this great chart that tells what chance you have of inheriting the gene if your parents have it. I found it at http://www.fvleiden.org/ask/12.html.