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Factor V Leiden mutation

Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. Factor V Leiden is the most common hereditary hypercoagulability clotting disorder amongst Eurasians, possibly affecting up to 5% of the population of the U.S. It is named after the city Leiden (The Netherlands), where it was first identified in 1994 by Prof R. Bertina et al. more...

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Pathophysiology

It is an autosomal dominant condition in which the coagulation factor has a mutation and cannot be destroyed by activated protein C (aPC). It is a single nucleotide substitution of adenine for guanine - which causes an amino acid substitution of glutamine for arginine at position 506, the cleavage site for protein C.

As factor V cannot be inactivated, it continues to facilitate production of thrombin, and so thrombi form in the veins.

Epidemiology

Up to 30% of patients who present with venous thrombosis or pulmonary embolism have this mutation.

Diagnosis

Suspicion of Factor V Leiden being the cause for any thrombotic event should be considered in any white patient below the age of 45, or in any person with a family history of thrombosis.

This disease can be diagnosed by watching the APTT (the time it takes for blood to clot) as activated protein C is added. With a normal patient, adding aPC increases the APTT. With patients suffering from Factor V Leiden, adding aPC will barely affect the time it takes for blood to clot.

There is also a simple genetic test that can be done for this disorder. The mutation (a 1691G→A substitution) removes a cleavage site of the restriction endonuclease MnlI, so simple PCR, treatment with MnlI, and then DNA electrophoresis will give a quick diagnosis.

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Stroke after Marijuana smoking in a teenager with factor V Leiden mutation.(Brief Article) : An article from: Southern Medical Journal $5.95 Bilateral thalamic infarction in a patient with factor V Leiden mutations : An article from: Mayo Clinic Proceedings $20.00

most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation, The
It has recently been postulated that thrombophilia may have a role in the aetiology of Perthes' disease. The published reports, however, remain conflicting.
Intracranial sinus thrombosis in patient with Crohn disease and factor V Leiden mutation
There is a well-known risk of thrombosis in patients with inflammatory bowel disease. Documented cases of intracranial sinus thrombosis in this setting ...
Activated protein C resistence, the factor V leiden mutation, and a laboratory testing algorithm
Objectives.-To present the current understanding of factor V Leiden and activated protein C resistance, and to propose a laboratory testing algorithm.
Prevalence of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Mutations in 200 Healthy Jordanians
Thrombophilia is now considered a multi-causal condition, with interplay of acquired genetic risk factors. In order to estimate the frequency of the factor ...
Decision analysis model of prolonged oral anticoagulant treatment in factor V Leiden carriers with first episode of deep vein thrombosis
Widespread genetic screening for the factor V Leiden mutation would probably not provide any advantage, even though patients with that gene are twice as ...
Fatal dural sinus thrombosis associated with heterozygous factor V Leiden and a short activated partial thromboplastin time
Inherited thrombophilia is a risk factor for dural sinus thrombosis (DST). To our knowledge, this is the first description with autopsy findings of a patient with DST associated with heterozygous f
Factor V Leiden with deep venous thrombosis
CLINICAL PRACTICE: HEMOSTASIS Factor V Leiden (FVL) is an autosomal co-dominantly inherited Arg^sup 506^-->Gly substitution of the activated protein C cleavage site affecting 5% of the Caucasian pop
Clinical utility of factor V Leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders
Objective.-To review the current state of the art regarding the role of the clinical laboratory in diagnostic testing for the factor V Leiden (FVL) thrombophilic mutation (and other protein C resis

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