What is Factor V-Leiden?

• A Disorder that causes abnormal blood clots

• Directly causes Thrombophilia• Forms blood clots which blocks blood

cells.

Causes of Factor V-Leiden

• A mutation in the F5 Gene• The F5 Gene creates the Factor V• The Factor V Protein causes blood clots• Blood clots are a defense towards injuries• Mutated Factor V Proteins cause abnormal

clots

Symptoms of Factor V-Leiden

•Indications that show Factor V-Leiden:• * Pain, Significant Swelling, Redness, Warmth *= commonly affects legs,ankles, and feet • Pulmonary Embolism(blocks blood flow to

heart)

Incidences Concerning Factor V-Leiden• This is a very common genetic disease• Mostly European populations carry this

disease• 3-8% of Europeans carry a copy • 1 in 5000 people carries two copies• Much less common in other populations

Inheritance

• Mostly depends on the amount of copies• Babies from two carrier parents have risk• With more people born with copies, more

infected

Diagnosis for Factor V-Leiden

• Activated protein C resistance Test- Resistance to this protein shows mutation.• Genetic Test- Done to confirm the results of APC

Treatment of Factor V-Leiden

• Anticoagulant(blood thinning)• Heparin and Warfarin- Heparin: quicker than warfarin(Injection)- Warfarin: Pill form, causes birth defects

Discovery of Factor V-Leiden

• Discovered in 1943• Added to the Morawitz theory• Was a dogma to the theory

Support for Factor V-Leiden

• Thrombophilia Awareness Project• Many Doctors in California for Factor V-

Leiden

Promotion

• Elizabeth Varga (Certified Genetic Counselor)

Bibliography

• http://www.mayoclinic.com/• http://www.fvleiden.org• http://ghr.nlm.nih.gov/condition/factor-v-leide

n-thrombophilia• http://www.netdoctor.co.uk/diseases/facts/fa

ctorv.htm• http://onlinelibrary.wiley.com/doi/10.1046/j.1

538-7836.2003.00043.x/full• http://www.wellsphere.com/genetics-article/t

o-celebrate-dvt-awareness-month/346050