Pathophysiology
These are an autosomal dominant condition in which the clotting factor has a mutation and cannot become destroyed by activated protein C (aPC). These are one 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.

When factor V can't exist as inactivated, it continues to help production of thrombin, so thrombi form in the veins.

Epidemiology
As much as 30% of patients world health organization present by having phlebothrombosis or even pulmonary embolism have this mutation.

Diagnosis
Suspicion of Factor even V Leiden existence the drive for any thrombotic event should exist as considered in any whiten patient beneath a age of 45, or in any individual sustaining a personal history of thrombosis.

This disease may be diagnosed by watching a APTT (the period it hold blood to clot) when activated protein C is added. Sustaining a normal patient, adding aPC increases the APTT. By owning patients suffering from either Factor V Leiden, adding aPC may barely affect a period it deem blood to clot.

There exists besides the elementary transmitted line 3 text that may be done for this disorder. the mutation (a 1691G→The substitution) removes the cleavage places of the restriction endonuclease MnlI, so elementary PCR, treatment sustaining MnlI, and so DNA electrophoresis will give a quickly diagnosing.