Understanding how your blood clots, genetically, can save you or a loved one’s life.
Learn how the PhosphorusONE test can help you to better understand and mitigate your risk of developing a Deep Venous Thromboembolism (DVT) – a type of deadly blood clot.
What is a Deep Venous Thromboembolism (DVT)?
A DVT is a blood clot that forms deep within the veins of your body, typically your legs. This type of clot will typically go asymptomatic – unknown and undetected for some period of time. However, environmental changes, genetic predisposition, and chance occurrence can result in a clot becoming dislodged, traveling through your bloodstream, reaching your lungs where it can cause a deadly Pulmonary Embolism - where a clot can block the ability of oxygen to reach your bloodstream.
In the United States, Pulmonary Embolism resulting from DVT is not a leading cause of death, yet it is not rare. Around 140,000 people die from this each year. As the clots can remain undetected for weeks or even months, strategies for preventing such events are challenging to administer.
What can my genes tell me about my risk for DVT?
People with a higher rate of clotting in their blood are at a higher risk for DVT- significantly so. Mutations in two genes in particular have been found to exist in [XX%] of patients who experience a DVT-related Pulmonary Embolism: Factor V (F5) and Factor II (F2). These genes are signal pathway that helps your blood to clot. Often, variations in these genes result in clotting failures in the form of hemophilia. However, there are two specific variations seen in these genes that increase your clotting rate.
Factor V Leiden Variation: The Factor V Leiden variant is carried by approximately 2% of the population, meaning 1 in 50 individuals on average will be at higher risk for blood clots. Carrying only one copy of this variation only modestly increases your risk for blood clots. Double Factor V Leiden carriers beware though: by carrying two copies of this mutation, you are considered to be at high risk for DVT and DVT related events.
Factor II Prothrombin Variation: Much like the Factor V Leiden variation, the Factor II Prothrombin Variation is somewhat rare, existing in around 1% of the general population. That makes double-mutation carriers much rarer, less than 1%.
How do I assess my risk?
Having your F2 and F5 genes analyzed to determine whether your carry Factor V Leiden or Factor II Prothrombin is a first step to understand your blood clotting profile. Double mutation carriers or carriers of mutations in both genes should be considered higher risk than the general population for DVT. If there is any family history of a pulmonary embolism or late-onset pregnancy loss, then with your physician you may want to prophylactically address your predisposition for clotting.
PROC and PROS: What do these genes do?
Your Proteins C (PROC) and S (PROS) are part of the anticoagulation system of your body. These proteins present in the blood help to prevent and break up clots in your blood stream, and their function is essential to keeping things moving smoothly.
Mutations in the PROC or PROS genes may result in impaired protein function, thus less ability to prevent and break up blood clots. These types of mutations can put you at a higher risk of DVT events, and together with your F5 and F2 status can be utilized to get a finer understanding of your risk for major blood clotting.
If I test positive for a mutation, how do I manage risk if I am not symptomatic?
Ultimately, sequencing your genes can help you and your physician to come up with a plan to best address any risk found in your genes. Absent of any personal or family history of a DVT-associated event, your physician may decide that passive monitoring is enough for the time being.
Certain blood protein tests can help assess your current rate of blood clotting vs. the population average. In particular, periodic biochemical testing for levels of Protein C and Protein S are good measures of healthy blood clotting (note: this type of test looks at the actual amount of protein in the blood, not at the genetic sequence like the PhosphorusONE test). As your levels change over time, your doctor may recommend daily aspirin, or decide to move you to a more aggressive blood thinner or anti-coagulant.
What about pregnancy and blood clotting?
Thrombotic events, or thrombosis, is also a major issue for pregnant women. In particular, families with high blood clotting profiles may experience high rates second trimester pregnancy losses due to dislodged blood clots leading to spontaneous abortions.
How can Phosphorus help?
October 13th is World Thrombosis Day. It’s an opportunity to raise awareness and learn more about your own risk. Our PhosphorusONE at-home saliva kit makes collecting your DNA easy and painless. We look at your DNA, and based on millions of data-points, we are able to determine precisely where variations exist along the genes sequenced in our test. These variations are each sequenced dozens of times to assess to better understand and mitigate your risk of developing a Deep Venous Thromboembolism (DVT).
We also offer the chance to speak to a Board Certified Genetic Counselor. This is a complimentary service to better help you understand your results.
Click here to learn more.