Your Resource for all Things Relating to Factor V Leiden

Volume 1/ Issue 3 / June, 2021

In This Issue…

  • Who Should Be Tested For Factor V Leiden – The Controversy Continues – a look at the arguments for and against being tested for Factor V Leiden and how ultimately it is your personal decision.

  • Heterozygous versus Homozygous Factor V Leiden – Defining each type and also addressing what it means to be a “carrier” of the disorder.

  • Factor V Leiden and Nutrition – a message from Executive Director Dr. Teresa Ousley.

  • Factor V Leiden Fast Facts – Fun facts that expand awareness and promote education about this barely known but very common genetic blood clotting disorder.

 

Welcome to the June Issue!

 

Emailed each month, this newsletter will cover the latest topics of interest making the news, keep you informed about current research studies, and offer noteworthy and relevant stories from our staff, medical professionals, and others interested in or affected by Factor V Leiden. In it you will find informative articles explaining what your association is doing to promote awareness and to educate others about Factor V Leiden. You will keep up-to-date on the latest initiatives being carried out by the association and explain how we are advocating for you to help keep you and your family safe.

 

Our goal is to make it interesting, informative and usable as a tool to pass along and convey to others important and relevant information about this very common genetic blood clotting disorder.

Thank you for your positive feedback and a “BIG” thank you to those who have reached out and volunteered their services to help promote our mission.

 

As the AFVLA enters its second year this month, exciting new things are developing that we will share with you in the near future. Progress is being made but there is still a lot of work to be done to get the word out about Factor V Leiden.

Thank you so much for your interest and support… we are so grateful and very much depend on caring people like you to help spread the word about Factor V Leiden.

Factor V Leiden Headlines

Who Should Be Tested For Factor V Leiden – The Controversy Continues

You may be surprised to learn that there is a lot of discussion and debate over the issue of testing for the Factor V Leiden (FVL) trait. The issue becomes complicated because receiving a positive or negative result from a Factor V Leiden test, depending on the circumstances and motivation behind taking the test, can sometimes create more questions than answers and offer limited help in determining a treatment. One of the key issues related to the controversy is that there is limited evidence that preventative measures such as the use of blood thinners is helpful in preventing a future venous blood clot. The risks of “overtreating” an asymptomatic individual and causing excessive bleeding issues can sometimes outweigh the benefits of possibly preventing a blood clot in the future. On the other hand, someone who knows they have Factor V Leiden has an increased awareness of blood clot symptoms and are mindful of those things that can trigger a blood clot. They can make better, healthier lifestyle choices and thus, reduce their risk of getting a blood clot. Before we discuss the pros and cons of this debate, let’s first look at the current guidelines most can agree on when it comes to testing.

The Current Guidelines for Testing

Most in the medical community agree on the guidelines below to determine who should be tested for Factor V Leiden:
  • those who have a venous thrombosis (blood clot) under the age of 50
  • those who have recurrent venous thrombosis
  • those with a family history of venous thrombosis
  • those who have a venous thrombosis in an unusual location such as in the hepatic, mesenteric, and cerebral veins
  • female smokers who suffered myocardial infarction under the age of 50
  • venous thrombosis in pregnant women
  • women with recurrent pregnancy loss, unexplained severe preeclampsia, placental abruption, or intrauterine fetal growth restriction.
Some agree that testing may also be considered in the following situations:
  • those who have a venous thrombosis over the age of 50 except when active malignancy is present.
  • relatives of individuals known to have Factor V Leiden when knowledge that they have Factor V Leiden may influence management of pregnancy and may be a factor in decision-making regarding oral contraceptive use.
  • when knowledge of the Factor V Leiden carrier status may influence management of future pregnancies.
Factor V Leiden testing is not routinely recommended in the following situations:
  • for the general population.
  • during routine pregnancy screening.
  • before prescribing estrogen contraception, hormone replacement therapy (HRT), or selective estrogen receptor modulators (SERMs).
  • for prenatal testing or screening of asymptomatic newborns, neonates, and children.
  • for patients with a personal or family history of arterial thrombosis (acute coronary syndrome or stroke), unless unexplained in an individual under age 50.

There are a few situations that are not addressed in the above guidelines that could increase your risk. The guidelines assume that you are in contact with direct family members and are aware of any history of venous blood clots they have experienced. Also, the guidelines do not take into account other major risk factors for blood clots such as hospitalization, surgery, trauma, obesity, smoking, and immobility.

Who Should Be Tested For Factor V Leiden – The Controversy Continues

You may be surprised to learn that there is a lot of discussion and debate over the issue of testing for the Factor V Leiden (FVL) trait.

The issue becomes complicated because receiving a positive or negative result from a Factor V Leiden test, depending on the circumstances and motivation behind taking the test, can sometimes create more questions than answers and offer limited help in determining a treatment.

One of the key issues related to the controversy is that there is limited evidence that preventative measures such as the use of blood thinners is helpful in preventing a future venous blood clot. The risks of “overtreating” an asymptomatic individual and causing excessive bleeding issues can sometimes outweigh the benefits of possibly preventing a blood clot in the future.

On the other hand, someone who knows they have Factor V Leiden has an increased awareness of blood clot symptoms and are mindful of those things that can trigger a blood clot. They can make better, healthier lifestyle choices and thus, reduce their risk of getting a blood clot.

Before we discuss the pros and cons of this debate, let’s first look at the current guidelines most can agree on when it comes to testing.

The Current Guidelines for Testing

Most in the medical community agree on the guidelines below to determine who should be tested for Factor V Leiden:

  • those who have a venous thrombosis (blood clot) under the age of 50

  • those who have recurrent venous thrombosis

  • those with a family history of venous thrombosis

  • those who have a venous thrombosis in an unusual location such as in the hepatic, mesenteric, and cerebral veins

  • female smokers who suffered myocardial infarction under the age of 50

  • venous thrombosis in pregnant women

  • women with recurrent pregnancy loss, unexplained severe preeclampsia, placental abruption, or intrauterine fetal growth restriction.

Some agree that testing may also be considered in the following situations:

  • those who have a venous thrombosis over the age of 50 except when active malignancy is present.

  • relatives of individuals known to have Factor V Leiden when knowledge that they have Factor V Leiden may influence management of pregnancy and may be a factor in decision-making regarding oral contraceptive use.

  • when knowledge of the Factor V Leiden carrier status may influence management of future pregnancies.

Factor V Leiden testing is not routinely recommended in the following situations:

  • for the general population.

  • during routine pregnancy screening.

  • before prescribing estrogen contraception, hormone replacement therapy (HRT), or selective estrogen receptor modulators (SERMs).

  • for prenatal testing or screening of asymptomatic newborns, neonates, and children.

  • for patients with a personal or family history of arterial thrombosis (acute coronary syndrome or stroke), unless unexplained in an individual under age 50.

There are a few situations that are not addressed in the above guidelines that could increase your risk. The guidelines assume that you are in contact with direct family members and are aware of any history of venous blood clots they have experienced. Also, the guidelines do not take into account other major risk factors for blood clots such as hospitalization, surgery, trauma, obesity, smoking, and immobility.

Share with us your thoughts…

  • What are your thoughts and experiences concerning being tested for Factor V Leiden?

  • Should direct family members of those with FVL be tested?

  • Should women considering birth control or hormone replacement therapy containing estrogen be tested?

  • Have you had a healthcare professional refuse to test you or your children?

  • Is it appropriate to have children tested for Factor V Leiden and if so, when?

  • Should newborns be screened for Factor V Leiden at birth?

  • What are your thoughts and experiences with “direct-to-consumer” DNA testing kits from companies like 23andMe?

Please email us below with your thoughts and experiences.

We will include your feedback in next month’s issue.

Factor V Leiden >>Fast Fact<<

Blood thinners, also known as anticoagulants, do not actually “thin” your blood nor do they break up an existing clot. In most cases, blood thinners do keep the blood from forming new clots and slow down the growth of an existing clot.

Heterozygous versus Homozygous Factor V Leiden

Defining each type and addressing what it means to be a “carrier” of the disorder.

There are two different types of Factor V Leiden (FVL).

Genes are present in our cells and come in pairs. Everyone has two copies of the factor V gene. We inherit one gene from our mother and one gene from our father. One or both of the factor V genes can be mutated and cause the altered form of the factor V protein known as the Factor V Leiden protein to be made.

 

Heterozygous Factor V Leiden

  • If you inherited one Factor V Leiden gene from one parent, you have the heterozygous type of Factor V Leiden.
  • You have one Factor V Leiden gene from one parent and one normal Factor V gene from your other parent.
  • In your body, you have 50% Factor V Leiden and 50% normal factor V protein in your blood.
  • This happens in about 5 out of 100 people of Caucasian decent.
  • Inheriting one copy of the Factor V Leiden gene increases your risk of developing abnormal blood clots by an estimated 3 to 8 times compared to someone without the genetic disorder.

Homozygous Factor V Leiden

  • If you have two Factor V Leiden genes, you have the homozygous type of Factor V Leiden.
  • You inherited one Factor V Leiden gene from your mother and one Factor V Leiden gene from your father.
  • In your body, you have 100% of Factor V Leiden and no normal Factor V.
  • This happens in less than 1 out of 100 people of Caucasian decent.
  • Inheriting two copies of the Factor V Leiden gene significantly increases your risk of developing abnormal blood clots by an estimated 80 times compared to someone without the genetic disorder.

Can someone be a “carrier” of Factor V Leiden?

The term “carrier” can be very confusing as it relates to Factor V Leiden and is sometimes misused and often misunderstood even within the medical community.

The Term “Carrier” Defined

According to the National Human Genome Research Institute (NHGRI), a carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.

Carriers are associated with diseases inherited as recessive traits. In order to have the disease, an individual must have inherited mutated alleles (gene variant) from both parents. An individual having one normal allele and one mutated allele does not have the disease. Two carriers may produce children with the disease.

Factor V Leiden is considered autosomal dominant (as opposed to recessive)…

Factor V Leiden thrombophilia is inherited in an autosomal dominant manner and exhibits incomplete penetrance. Therefore, the term “carrier” doesn’t apply in this situation as “carrier” is associated with and reserved for diseases that are inherited as recessive traits. (see the diagram below)

The term “incomplete penetrance” means that not every person who has the mutation will develop the disease or disorder. Studies show that an estimated 10% of people with Factor V Leiden will develop an abnormal blood clot sometime during their lifetime. Therefore, Factor V Leiden has an estimated penetrance of around 10%.

A gene variant is said to have complete penetrance if all individuals who have the mutation experience symptoms of the disease or disorder.

 

Confused?… we understand.

 

With Factor V Leiden, both heterozygotes and homozygotes are considered positive for and have the genetic disorder. Both are at an increased risk for developing abnormal blood clots. In short, either you have the Factor V Leiden disorder or you don’t regardless if one factor V gene or both factor V genes are affected.

 

Sometimes, when someone refers to himself or herself as a “carrier” of Factor V Leiden, they are identifying themselves as having the homozygous type of Factor V Leiden.

 

As defined above by the NHGRI, both of their parents had the mutation and there is a 100% chance they will pass the genetic mutation on to their children.

 

Also, because those who are heterozygous with Factor V Leiden can also pass the mutation on to their children, it is common for those people to be referred to as carriers as well.

 

Thus, in layman terms, everyone with FVL is at least a “carrier” of either one or two variants. However, from a genetic viewpoint, the term doesn’t apply.

 

Please share with us your experiences and tell us how your healthcare professional defines a “carrier” of FVL. You can email us below.

We will share your feedback in next month’s issue.

Factor V Leiden >>Fast Fact<<

One way to know if you have Factor V Leiden, or know if you have the heterozygous type or the much more serious homozygous type of Factor V Leiden, is to get tested via a simple blood test. Call your healthcare professional today and get tested

Factor V Leiden and Nutrition

A Message from Dr. Teresa Ousley, Executive Director

During the summer of 2017, our family enjoyed a week long vacation in Costa Rica. While we appreciated exploring the country and spending time with the extremely hospitable locals, it was how we felt physically at the end of the week that surprised us. We chose to dine on local, authentic cuisine which meant eating foods that were non-processed and prepared naturally without added preservatives and artificial ingredients. We were surprised at the amount of energy we had and how healthy we felt after just one week. During our visit, it was also interesting to learn that cancer was only first diagnosed on the island after tourists insisted on fast food restaurants and stores that offered an array of processed foods and candy migrate to the country.

 

Importance of Diet

Diet has been linked to an enormous amount of diseases that affect millions of people in the world today. Just as patients who have diabetes must watch the amount of carbohydrates they ingest, patients with blood clotting disorders such as Factor V Leiden also need to be aware of their diet and nutritional intake.

Vitamin K is a nutrient that can affect blood clotting and decreases the effectiveness of blood thinners. If you are taking a blood thinner, please first talk with your physician prior to consuming foods with vitamin K, but small amounts of the food should not cause a problem. It is important to maintain consistency of your daily intake of Vitamin K. Examples of foods that are considered high in vitamin K include kale, spinach, brussels sprouts, collards, mustard greens, broccoli, asparagus, and green tea. Clients who monitor their International Normalized Ration (INR) may notice a decreased INR, meaning it takes less time for their blood to clot, if they eat diets high in Vitamin K. Cranberry juice and alcohol should only be consumed in small amounts as they are drinks that may enhance the effectiveness of blood thinners, increasing the time it takes for a client’s blood to clot, hence increasing their INR.

 

Hydration

Do you know that when a person experiences thirst, their body is already 10% dehydrated? Dehydration allows the blood to become thick and viscous which can allow platelets to stick together increasing the risk of a blood clot. The Institute of Medicine recommends that men drink at least 101 ounces of water each day and women consume at least 74 ounces of water daily to keep their bodies properly hydrated.

 

Virgin Olive Oil / Grapes

In 2019 the National Institutes of Health presented a study that showed the weekly consumption of olive oil reduced the platelet activity of nonsmoking adults who were considered obese with a body mass index greater than 30. This information supports an earlier study published by the American Journal of Clinical Nutrition which found that virgin olive oil contained phenols, a form of antioxidants that help to prevent blood clots. Individuals who consumed the virgin olive oil that contained an elevated level of phenol had decreased levels of substances which promotes the blood to clot.

The consumption of red grapes, purple grape juice, or red wine daily (one glass a day for women and two for men), may allow the blood vessels to relax and reduce the chances of platelets sticking together and forming blood clots. As always, prior to adding alcohol or changing your diet, discuss it with your physician, especially if you are taking blood thinners.

 

Inflammation / Foods to Avoid

Foods that may increase the buildup of plaque within the blood vessels that can lead to cardiovascular disease, are also the foods that can increase the risks of developing a DVT. Decreasing or eliminating the foods that are high in trans fats, saturated fats, salts, and sugars are a vital component in reducing the risk of developing a DVT. Examples of foods to reduce or eliminate from your diet include refined and processed foods like cereals high in sugar content, white bread, crackers, pastries, fast foods, pre-packaged foods, sodas, and drinks filled with sugar, margarine, red and processed meats. Reducing these types of foods from your diet will also reduce the amount of inflammation within your body. Inflammation has been linked to multiple serious illnesses that prevent your blood from flowing and properly clotting.

The Mediterranean Diet

The Mediterranean Diet is based on the way on the traditional cuisine of countries that border the Mediterranean Sea. It has been recognized by the World Health Organization as a healthy dietary pattern (Mayo Clinic, 2021). The Mediterranean diet is based on vegetables, fruits including berries, herbs, nuts, beans, and whole grains. Healthy fats are included in the diet and are eaten in place of unhealthy fats such a saturated and trans fats. Olive oil is the primary source for healthy added fat into the Mediterranean diet. Fatty fish like salmon, lake trout and albacore tuna are rich in omega-3 fatty acids which are a type of healthy fat that may reduce inflammation, decrease triglycerides, and reduce blood clotting. The meals are built on plant-based foods and also include a moderate amount of seafood, eggs, dairy, and chicken. Red meats are only eaten on occasion.

 

The Mayo Clinic offers the following suggestions if you are interested in trying the Mediterranean Diet. As always, please talk with your doctor prior to making changes to your diet.

 

· Eat more fruits and vegetables. Aim for 7 to 10 servings a day of fruit and vegetables.

· Opt for whole grains. Switch to whole-grain bread, cereal, and pasta. Experiment with other whole grains, such as bulgur and farro.

· Use healthy fats. Try olive oil as a replacement for butter when cooking. Instead of putting butter or margarine on bread, try dipping it in flavored olive oil.

· Eat more seafood. Eat fish twice a week. Fresh or water-packed tuna, salmon, trout, mackerel, and herring are healthy choices. Grilled fish tastes good and requires little cleanup. Avoid deep-fried fish.

· Reduce red meat. Substitute fish, poultry, or beans for meat. If you eat meat, make sure it is lean and keep portions small.

· Enjoy some dairy. Eat low-fat Greek or plain yogurt and small amounts of a variety of cheeses.

· Spice it up. Herbs and spices boost flavor and lessen the need for salt.

The Mediterranean diet is a delicious and healthy way to eat. Many people who switch to this style of eating say they will never eat any other way.

 

Summary

In 2018 it was found that Costa Rica spent 7.56 percent of their gross domestic product (GDP) on healthcare with the average life expectancy of 80 years. During 2018 the United States, a much wealthier nation, spent 17.7 percent of their GDP on healthcare producing a life expectancy of 78.7 years. While there are multiple factors that can affect your health, nutrition and the dietary choices we make play a significant role in our health.

 

Please consider making good nutritional choices allowing you to be as healthy as possible, especially if you have Factor V Leiden.

 

If you have a passion for Factor V Leiden and would like to help us educate others, please consider partnering with us as we work to promote awareness, expand knowledge and help save lives.

Factor V Leiden >>Fast Fact<<

Studies show that having Factor V Leiden does not appear to increase your chances of developing a heart attack, stroke, cancer, or birth defects.

Factor V Leiden >>Fast Fact<<

Although researchers aren’t sure why, studies show that people that have type O blood are less likely to develop blood clots related to Factor V Leiden than people that do not have type O blood (i.e., A, B or AB blood types).

Introducing the American Factor V Leiden Association Facebook page!

Here is where you can find the latest news and information about Factor V Leiden posted by the AFVLA. You can see the status of upcoming events and stay up-to-date with what is happening at the association. You can also share your thoughts and ideas with us and others. Click below to check it out!

In the July, 2021 Issue...

Monthly Features:

 

Factor V Leiden Headlines – “Dealing with Anxiety that Comes With a Factor V Leiden Diagnosis” – we speak with a mental health counselor about healthy ways to live life to the fullest after being diagnosed with FVL.

 

Factor V Leiden Office Memo – “Factor V Leiden and Pregnancy” -Some thoughts from our Executive Director Dr. Teresa Ousley.

 

Factor V Leiden Fast Facts – Fun facts that expand awareness and promote education about this barely known but very common genetic blood clotting disorder.

 

Factor V Leiden Follow-Up – We address your questions and comments from previous issues. Your voice is very important to us.

 

Our Mission...

The American Factor V Leiden Association is dedicated to its mission to serve as a central resource to the general public and medical community, expand awareness, promote education, advocate for and support those affected, assist in establishing testing guidelines, strongly encourage additional research, and facilitate in the exchange of information relating to Factor V Leiden. The ultimate goal is to save lives that would be lost to thrombosis related to Factor V Leiden.

Meet Dr. Teresa Ousley…

Dr. Teresa Ousley is a co-founder of the American Factor V Leiden Association and serves as the Executive Director. Her always positive, happy demeanor, dedication, and absolute concern and caring for others perfectly models the desired image, purpose and goals of the organization. Her Doctor of Nursing Practice degree with an emphasis in leadership was preceded by a Master of Science in nursing education. She has spent several years educating our future nurses of tomorrow and continues to serve as an Assistant Professor of Nursing. Her true passion and dedication for education and public awareness shines through the moment you meet her. The association is very blessed to have her at the helm forging its future and being laser focused on accomplishing its mission. Take a second and say “hi”, she has never met a stranger and would love to hear from you. Teresa.Ousley@FactorV.org

Please visit

www.FactorV.org

Get involved and make a difference!

Together through knowledge and awareness we can reduce the risk and help to improve and save lives.

The American Factor V Leiden Association, Inc is a non-profit 501(c)(3) charitable organization. Your gift regardless of the amount goes a long way to further the cause and help get the word out about this barely known but very common genetic blood clotting disorder.

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