Lupus · 1996 · 35 citations · 10 references
MedicineGeneticsHematologyHemostasisHuman GeneticsMedical GeneticsAntiphospholipid SyndromeCoagulation DisordersHemostatic DisordersThromboembolic DiseaseThrombosisThrombotic DisordersAnti-phospholipid AntibodiesAntibodiesFactor V MutationHereditary Factor V DeficiencyMutationPhospholipid Antibody SyndromeThrombosis In Antiphospholipid SyndromeThrombosis Pathophysiology
Antiphospholipid antibodies (APA) have thought to be implicated in the pathogenesis of both arterial and venous thrombosis. Because of heterogeneity of APA, direct evidence of their involvement in a thrombotic event is not yet available. Development of thrombosis in the antiphospholipid antibody syndrome (APS) may occur because of the presence of additional risk factors. Here we have analysed 60 patients with APA for the presence of the Arg506-->Gln mutation in factor V. Among them 26 suffered from deep venous thrombosis, 13 from arterial thrombosis and 21 had no history of arterial or venous thrombosis. In the first group four patients were found to be heterozygous and one homozygous for the factor V Arg506-->Gln mutation. None of the patients with the factor V mutation was found in the second and third group. The incidence of factor V mutation was significantly elevated in the group of patients with venous thrombosis. These data suggest that in patients with antiphospholipid antibodies the factor V Arg506-->Gln mutation may play a major role in the occurrence of venous thrombosis.
10
Mutation in blood coagulation factor V associated with resistance to activated protein C
Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster et al. · Nature · 1994 · 3.8K citations
Medicine, Genetics, Hematology +14
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V
Jan Voorberg, J Roelse, Koen Mertens et al. · The Lancet · 1994 · 436 citations