Factor V Leiden Mutation
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Definition:

Factor V Leiden mutation is a widespread clotting disorder caused by the mutation of a gene in the clotting of Factor V. The mutation results to Factor V responding more gradually to Protein C. Protein C is an anti-clotting aspect that usually controls Factor V activity. Consequently, individuals with Factor V Leiden mutation have increased risks of thrombophilia or blood clots.


Diagnosis:

Factor V Leiden mutation can be detected through special blood tests. Physical examination and medical history may also be used for diagnosis.


Treatment:

If there is development of blood clots, treatment can include anticoagulant or anti-clotting medicines such as Coumadin or warfarin.


Symptoms and Signs:

The disorder includes three common symptoms: blood clots, thrombosis, and deep vein thrombosis.


Causes:

Factor V Leiden mutation is caused by the alteration of a variant of factor V, wherein its Leiden aspect can't be inactivated by an activated Protein C. The disorder is commonly hereditary. If an individual inherits one copy of the defective gene, they are called heterozygous; a person who inherits two copies of the defective gene is known as homozygous. Homozygous individuals are at a higher risk of vein blood clots that can travel to their lungs.


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