Hereditary Thrombophilia
I feel great. I had a blood clot. It was a bad deal. But when I look at my friends with hip replacements, knee replacements, shoulder replacements, neck surgeries, back surgeries, I'll take the blood clot - Ric Flair
image by: Universal Medical ID
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Disorder Magnifies Blood Clot Risk
When David Bloom, 39, went to Iraq in 2003 to cover the war for NBC News, his wife, Melanie, naturally feared for his safety. Would a bullet or a bomb claim him? A land mine? An ambush?
Instead it was a blood clot lodged in his lungs that ended his life. Ms. Bloom subsequently learned that her husband carried a genetic abnormality, factor V Leiden, that greatly increased his risk for developing blood clots.
Mr. Bloom had three other risk factors for clots: a long plane ride to Iraq, erratic eating habits that could have caused dehydration, and cramped sleeping space in Army vehicles. But had he not had this genetic quirk — or had he known about it and the higher risks it carried…
Resources
Thrombophilias: who to test
Who not to test - just about everyone.
To test or not to test for inherited thrombophilias
First consider whether a deep venous thrombosis was provoked or unprovoked, as well as at the type of provoking factors.
What Are Common Inherited Thrombophilias?
Thrombophilia can be inherited or acquired (such as antiphospholipid syndrome). The risk of thromboembolic events is much lower in children than adults.
What is factor V Leiden?
While factor V Leiden is completely normal in terms of its ability to prevent bleeding, the one amino acid difference makes factor V Leiden resistant to being degraded or inactivated by protein C and protein S. Consequently, factor V Leiden lingers in the circulation longer and, therefore, contributes to the formation of blood clots.
23andMe Rides Again: FDA Clears Genetic Tests To Predict Disease Risk
The new FDA approval will allow 23andMe to tell consumers about their risk for 10 conditions. This won't tell a person whether they have a disease, but whether they are at risk of getting it.
Factor V Leiden for Kids
A children’s book about Factor V Leiden by John Puetz MD.
Factor V Leiden Thrombophilia
Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep venous thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common.
The Genetics of Thrombophilia
Thrombophilia is usually categorized into two types–acquired and inherited. In acquired thrombophilia the abnormal clotting is usually related to a specific cause, such as prolonged periods of bed rest after surgery, trauma to the leg, or having cancer. People with inherited thrombophilia tend to form clots due to a genetic predisposition inherited from their parents. People with inherited thrombophilia may have a family history of relatives with abnormal or excessive blood clotting. This brochure will explain how genes play a role in blood clotting and are related to inherited thrombophilia.
Genetic test costs taxpayers $500 million a year, with little to show for it
We hear a lot about the wonders of genetic testing, how it can revolutionize medicine and find cures for fatal diseases. A new study from the University of Michigan also shows how it can waste a half a billion dollars a year. Researchers at the university examined testing for inherited thrombophilia, a genetic quirk that can indicate a patient’s likelihood of developing dangerous blood clots.
Hereditary thrombophilia
This review describes clinically relevant aspects of genetic venous thrombophilia, which include well-established, lesser known, and suggested causes of inherited thrombophilias.
No-one knew about my blood condition'
He was only in his 20s and had not been on any long distance flights and there seemed no obvious reason for his problems. But a series of tests revealed he was suffering from a genetic condition called Protein S Deficiency.
The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated
It is understandable that many patients confronted with DVT/PE want to know as much as they can about the condition and whether they should undergo genetic thrombophilia panel testing to determine if they have an inherited tendency to form blood clots.
To Test or Not to Test: The Inherited Thrombophilia Question
Among the disorders caused by mutations that are easily tested and identified, hypercoagulable mutations are of particular interest. The sense of fear, lack of control and potentially devastating consequences of a blood clot are strong motivators for families and practitioners who may believe that testing and knowledge will mitigate risk. However, most of the time, screening asymptomatic individuals of any age – but especially children – may result in overtreatment rather than clot prevention.
Disorder Magnifies Blood Clot Risk
The disorder results from a mutation in the factor V gene that participates in forming clots in response to an injury, for example. Without two fully functional factor V genes, the body’s ability to put a brake on clot formation is inhibited.
Dr. Geoffrey Sher
Thrombophilia affects as many as one in five people in the United States and is responsible for pregnancy loss (most particularly after the 1st trimester) and “unexplained” infertility, as well as being a factor in some cases of “unexplained” IVF failure.
Genetics Home Reference
Other Names for This Condition - APC resistance, Leiden type. Hereditary resistance to activated protein C.
Genome.gov
Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of the Caucasian (white) U.S. and European populations carry one copy of the factor V Leiden mutation, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations.
National Blood Clot Alliance
You make a protein called factor V that helps your blood clot. However, if you have a DNA mutation in the gene used to make the factor V protein, you have the “factor V Leiden” mutation. The mutation was named after a city called Leiden, where they did research on the first family found to have the mutation. If you have the factor V Leiden mutation, you have an inherited thrombophilia or clotting disorder.
NHS
Factor V Leiden is a type of thrombophilia caused by a specific gene mutation. It's the most common type of inherited thrombophilia, with 3-8% of Europeans having one copy of the factor V Leiden mutation in each cell, and about one in 5,000 people having two copies of the mutation. It's less common in other populations.
Patient
It has autosomal dominant inheritance and is the most common cause of inherited thrombophilia. FVL is the most prevalent thrombotic risk factor known in the Caucasian population (around 5%)
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