Overview. Factor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs. Most people with factor V Leiden never develop abnormal clots. But in people who do, these abnormal clots can lead to long-term.. Factor V Leiden is a genetic disorder characterized by a poor anticoagulant response to activated Protein C and an increased risk for venous thromboembolism. Deep venous thrombosis and pulmonary embolism are the most common manifestations, but thrombosis in unusual locations also occurs. The current evidence suggests that the mutation has at most a modest effect on recurrence risk after.
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Factor V Leiden (rs6025 or F5 p.R506Q) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability).Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind normally to factor V, leading to a hypercoagulable state.. Recentemente, outra mutação do gene do fator V foi descrita, o fator V Cambridge, o qual pode explicar uma parcela desses casos com RPCA sem o fator V de Leiden. – Estudos populacionais que incluíram a população brasileira revelaram a presença do fator V de Leiden em cerca de 5% dos indivíduos de origem caucasóide e a ausência da mutação em negros e asiáticos.
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