Chelsea Thornley!

BIOL 1610-032!
Research Paper!
March 28, 2016!

Factor V Leiden!

Factor V Leiden is a genetic mutation that affects the formation of blood clots in

the body. It was first discovered in the city of Leiden in the Netherlands in 1994 by
Professor Rogier M. Bertina (et al,) and named after this location. This mutation is most
common among people of European descent, and about 3-8% of those people carry
one copy of the gene. The statistics are much lower in populations like those of Asian,
African, and Australian descent. (Kujovich, 2010) This mutation is significant as it is an
underlying cause for many patients with deep vein thrombosis, pulmonary embolism,
and strokes in otherwise healthy adults.!
The F5 gene is the location that encodes the instructions for blood coagulation. It
creates the protein Factor V, which responds to activation proteins when an injury
occurs and blood needs to clot. In the mutation Factor V Leiden, the activation protein C
(APC) that turns off the clotting factor, is ineffective. (Bertina, et al., 1994) The result is
that the blood continues to clot much longer than is needed, and can cause a build up of
clots in the blood vessels. The clots can be carried through vessels in the blood stream
to different locations within the body. Examples of this are Deep Vein Thrombosis (DVT)
and Pulmonary Embolism (PE.) DVT occurs when clots get stuck in the vessels of the
lower extremities and cut off blood flow supply. PE is an occurrence when a blood clot is
lodged in the lung cavity. Along with these fairly common conditions, abnormal blood
coagulations can be carried into the brain and cause a stroke. While not every instance
of blood clotting emergencies are a result of Factor V Leiden, it is responsible for a large
percentage of cases. In an analysis of data from multiple studies, researchers found

Chelsea Thornley!
BIOL 1610-032!
Research Paper!
March 28, 2016!
that the Factor V Leiden allele was present in 20% of patients with isolated DVT, 16%
with DVT and PE, and 16% with isolated PE. (Kujovich, 2010) Studies also indicated
that individuals with homozygous Factor V Leiden alleles are at the greatest risk for
abnormal clotting. People with heterozygous Factor V have one copy of the normal
gene, and one copy of the mutation, thus reducing their risk for medical complications.
(Ornstein, Cushman, 2003)
When this genetic mutation is not present, the coagulation Factor V is signaled
by activator proteins to respond to an injury and increase clotting. When the clotting is
sufficient, the activator protein C signals the Factor V to stop and slows down its
production, thus reducing the risk of abnormal clot build-up. (Ornstein, Cushman, 2003)
Having a genetic mutation that effects this process can increase the risk for uncontrolled
bleeding or clotting.
As this condition varies in severity, so do the methods of treatment. Many people
will be treated with anticoagulant medication which acts as a blood thinner. Women
are at an increased risk of PE or DVT who have been diagnosed with Factor V Leiden
and take oral contraceptives. Pregnancy must also be monitored closely as clotting may
increase. It is suggested that patients who are obese attempt to change their lifestyle by
losing weight to reduce risk factors. Staying hydrated, avoiding long periods of not
moving, and wearing compression socks can help with blood circulation as well.
Smoking is not recommended as it negatively effects many organ systems. Above all,
physicians recommend education on how and when to seek medical attention for a

Chelsea Thornley!
BIOL 1610-032!
Research Paper!
March 28, 2016!
suspected clot. (Ornstein, Cushman, 2003) This condition is treatable and not
necessarily fatal, but it requires regular monitoring and lab testing.
This F5 genetic mutation is fairly common among caucasian people of European
descent as heterozygous, however statistics show that about 1 in 5000 caucasians
carry homozygous genes. (Kujovich, 2010) This condition affects me personally, as my
mother is homozygous for Factor V Leiden. She was adopted and given no information
of her familys medical history, or pedigree. She suffered a stroke in her mid-thirties,
which prompted the investigation of the root cause of her clot. After various diagnostic
tests, blood clots were found lodged in different areas of her brain. She was medicated
with anticoagulants and made positive changes in her lifestyle to prevent her risk of
future abnormal clotting. This mutation is genetic, which means that I am likely to inherit
the Factor V Leiden gene as homozygous or heterozygous, depending on if my father is
a carrier. (Raven Biology, 2014, Ch. 13 p. 249) This information has been useful in
making lifestyle choices to prevent my risk for stroke, PE, and DVT. The only definitive
way to know if one carries the Factor V Leiden is to be genetically tested, which will also
determine if you carry one or two copies of the gene.

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Chelsea Thornley!
BIOL 1610-032!
Research Paper!
March 28, 2016!

Bibliography:

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1. Bertina, Rogier M., Bobby P.C. Koeleman, Ted Koster, Frits R. Rosendaal, Richard
J. Dirven, Hans De Ronde, Pieter A. Van Der Velden, and Pieter H. Reitsma.
"Mutation in Blood Coagulation Factor V Associated with Resistance to Activated
Protein C. Nature.com. Nature Publishing Group, 05 May 1994. Web. 28 Mar. 2016.

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2. Kujovich, Jody L., MD. Factor V Leiden Thrombophilia. GeneReviews. [Updated 9
Mar. 2010.] 14 May 1999. Web. 28 Mar. 2016

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3. Ornstein, Deborah L., MD, and Mary Cushman, MD, MSc. "Factor V Leiden."
Circulation. American Heart Association, 22 Apr. 2003. Web. 28 Mar. 2016.

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4. Raven, Peter H., Kenneth A. Mason, Jonathan B. Losos, Susan R. Singer, and
George B. Johnson. Biology 1610-1620 Majors Biology. 10th ed. McGraw-Hill
Education, 2014. Print. Salt Lake Community College.