Factor V Leiden thrombophilia

Factor V Leiden Mutation Causing Thrombophilia

It has autosomal dominant inheritance and is the most common cause of inherited thrombophilia. FVL is the most prevalent thrombotic risk factor known in the Caucasian population (around 5%). [1] Heterozygotes have a three to five times increased risk of thrombosis. Homozygotes are much less common but have a much higher thrombotic risk, around eight times increased risk. It leads to a hypercoag...

Factor V Leiden Mutation Causing Thrombophilia

It has autosomal dominant inheritance and is the most common cause of inherited thrombophilia. FVL is the most prevalent thrombotic risk factor known in the Caucasian population (around 5%). [1] Heterozygotes have a three to five times increased risk of thrombosis. Homozygotes are much less common but have a much higher thrombotic risk, around eight times increased risk. It leads to a hypercoag...

Factor V Leiden in young patients with thrombophilia.

Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.

AIMS To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencep...

The Leiden Thrombophilia Study (LETS).

Our study grew from an attempt to solve a controversy. In 1987 protein C antigen level was assessed in a large cohort of healthy blood donors (1). Subjects in this cohort who were heterozygous for protein C deficiency did not suffer from venous thromboembolism. Family studies in four of the protein C deficient individuals showed autosomal inheritance of the defect. These findings seemed in cont...