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Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency

Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency BLOOD COAGULATION & FIBRINOLYSIS Zehnder, J. L., Jain, M. 1996; 7 (3): 361-362

Abstract

A point mutation in the factor V gene (factor V Leiden) is the most common cause of familial thrombophilia. Patients with factor V Leiden have an increased risk of thrombosis, particularly those homozygous for the mutation. However, the phenotype in individuals with the mutation is variable, suggesting that other factors influence thrombotic risk. We describe for the first time a family in which two independent defects in factor V co-exist: heterozygosity for factor V Leiden and factor V deficiency. Compound heterozygosity for these two defects results in a phenotype similar to a homozygous factor V Leiden state with profound resistance to APC and recurrent thrombosis.

View details for Web of Science ID A1996UL37900012

View details for PubMedID 8735145