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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

Example Images...

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.

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