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What is Factor V Leiden mutation?

What is Factor V Leiden mutation?

  • Factor V Leiden mutation: A rare genetic condition where a abnormalities in the factor V protein prevent it from being inactivated by protein C which causes the blood to clot. The normal processes which regulate the blood coagulation process is impaired. The homozygous form of the condition carries a greater risk of blood clotting than the heterozygous form.

Factor V Leiden mutation is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Factor V Leiden mutation, or a subtype of Factor V Leiden mutation, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Factor V Leiden mutation as a "rare disease".
Source - Orphanet

Factor V Leiden mutation: Introduction

Types of Factor V Leiden mutation:

Broader types of Factor V Leiden mutation:

How serious is Factor V Leiden mutation?

Prognosis of Factor V Leiden mutation: people with only one genetic copy of the mutation face a four-eightfold increased in risk of developing a clot and those with two copies face an eighty fold increase in risk
Complications of Factor V Leiden mutation: see complications of Factor V Leiden mutation

What causes Factor V Leiden mutation?

Causes of Factor V Leiden mutation: see causes of Factor V Leiden mutation

What are the symptoms of Factor V Leiden mutation?

Symptoms of Factor V Leiden mutation: see symptoms of Factor V Leiden mutation

Complications of Factor V Leiden mutation: see complications of Factor V Leiden mutation

Can anyone else get Factor V Leiden mutation?

Inheritance: see inheritance of Factor V Leiden mutation

Factor V Leiden mutation: Testing

Diagnostic testing: see tests for Factor V Leiden mutation.

Misdiagnosis: see misdiagnosis and Factor V Leiden mutation.

How is it treated?

Doctors and Medical Specialists for Factor V Leiden mutation: Medical Geneticist ; see also doctors and medical specialists for Factor V Leiden mutation.
Treatments for Factor V Leiden mutation: see treatments for Factor V Leiden mutation
Research for Factor V Leiden mutation: see research for Factor V Leiden mutation

Name and Aliases of Factor V Leiden mutation

Main name of condition: Factor V Leiden mutation

Other names or spellings for Factor V Leiden mutation:

APC resistance, Leiden type, hereditary resistance to activated protein C, Factor V Leiden thrombophilia

APC resistance, Leiden type, Activated Protein C Resistance, Factor V Leiden thrombophilia, Hereditary resistance to activated protein C, Resistance to activated protein C
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Factor V Leiden mutation: Related Conditions

Research the causes of these diseases that are similar to, or related to, Factor V Leiden mutation:

 

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