Factor V Arg506-->Gln mutation in patients with antiphospholipid antibodies

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 syn...

Full description

Saved in:
Bibliographic Details
Published in:Lupus 1996-08, Vol.5 (4), p.303-306
Main Authors: Montaruli, B, Borchiellini, A, Tamponi, G, Giorda, L, Bessone, P, van Mourik, J A, Voorberg, J, Schinco, P
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Antiphospholipid Syndrome - complications
Arterial Occlusive Diseases - epidemiology
Arterial Occlusive Diseases - etiology
Autoimmune Diseases - complications
Disease Susceptibility
DNA Mutational Analysis
Factor V - genetics
Factor V Deficiency - complications
Factor V Deficiency - genetics
Female
Humans
Lupus Coagulation Inhibitor - analysis
Male
Middle Aged
Point Mutation
Polymerase Chain Reaction
Risk Factors
Thrombophlebitis - epidemiology
Thrombophlebitis - etiology
Thrombosis - epidemiology
Thrombosis - etiology
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0961-2033