Factor V Leiden Thrombophilia
By: Ava Stegner Period 2
What is Factor V Leiden Thrombophilia?
What is Factor V Leiden Thrombophilia?
It is an inheritded genetic mutation in the f5 gene(s) that increases the risk of having abnormal blood clots.
Symptoms
Symptoms
Factor v Leiden Thrombophilia doesnt neecessarily have symptoms it self but here are a few signs...
- Having first DVT or PE before 50 years old and/or having reccurring DVT or PE
- Having venous thrombosis (deep vein blood clots) unsuall places like brain, liver, lungs, legs, etc.
- Having DVT or PE d during or right after surgery or pregancy
- A strong family history of venous thromboembolism
Treatment
Treatment
For the gene mutation its self there is no treatment. But if someone with the disease has recently had a DVT or PE they are typically given blood thinners or anticoagulants to prevent another blood clot.
Cure
Cure
Unforunataly there is no cure for Factor v Leiden Thrombophilia since there is no technology to fix a gene mutation yet.
Inheritance
How is it inherited?
- Most common inherited form of thrombophilia
- Risk of developing abnormal blood clots depends on how many copies of the mutation was inherited ( people who have 2 copies had to get one from each parent )
- Autosomal dominaint and exhibits incomplete penetrance so even if you only have one copy you have the disease and not everyone shows sign
- Both men and women
- Is not sex linked
Example Pictures...
Example pictures...
*This disease can not skip a generation*
How Commmon?
How common?
- Usually more common in caucasians in the U.S. and Europe
- The highest rate of heterozygous is in Europe
- The mutation is extremly rare in Asia, Australia, and Africa
- More common in A and B blood types rather than O
Number Data...
- About 1 in 20 caucasians have the gene mutation
- Up to 1 in 50 black, hispanic, and native american have it
- More than 3 million cases a year in the U.S. (about 5%)
- The homozygous is rarer so it is in 1 and 5,000 caucasians
Number Data...
Lifespan
A person's lifespan with this disease is usually the same as a person without the disease. This is because most of the people with the disease never experience symptoms.
Fun Facts:
Fun Facts
- About 90% of people witht this disease never develop abnormal blood clots
- Risk of developing a DVT during pregnancy is about 7 times higher than normal
- If 2 copies of the gene mutation are inherited the risk of developing abnormal blood clots is up to 80% higher than if only 1 copy was inherited
Reflection
Reflection
After researching this it makes me wonder if any of many relatives have Factor V Leiden Thrombophilia and just don't know it. Also this research has helped me understand the mutation so that if I were to ever met someone with it I would know how to help them.
How does it affect ones family?
How does it affect one's family?
Factor V Leiden Thrombophilia does not affect the majority of families with the mutation. The family just has to make sure the affected people live a healthier livestyle with acitity and go in for the scheduled doctor check-ups.