factor V Leiden mutation
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factor V Leiden mutation
An autosomal dominant mutation in coagulation factor V that is found in about 5% of all whites. It produces a hypercoagulable state as a result of inherited resistance to activated protein C. Clinically, it is found in many patients with deep venous thrombosis.
See also: mutation
Medical Dictionary, © 2009 Farlex and Partners
factor V Leiden mutation
A mutation in the gene for the blood clotting factor V that leads to a type of increased clotting tendency known as activated protein C resistance (APC resistance). The mutation involves a CpG dinucleotide, a common location for a mutation. APC resistance from this cause is recognized as a cause of stroke in children but the mutation is often detected for the first time in people over 60 suffering a first episode of thrombosis. The mutation was discovered in the Thrombosis and Haemostasis Research Centre, University Hospital, Leiden, Netherlands.Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005