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Review : Factor V Arg506 Gln mutation in patients with antiphospholipid antibodies

Department of Medicine and Experimental Oncology, Haematology Section, University of Turin, Turin, Italy

A. Borchiellini

Department of Medicine and Experimental Oncology, Haematology Section, University of Turin, Turin, Italy

G. Tamponi

Department of Medicine and Experimental Oncology, Haematology Section, University of Turin, Turin, Italy

L. Giorda

Central Laboratory 'Baldi e Riberi', Molinette Hospital, Turin, Italy

P. Bessone

Central Laboratory 'Baldi e Riberi', Molinette Hospital, Turin, Italy

JA van Mourik

Department of Blood Coagulation, Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands

J. Voorberg

Department of Blood Coagulation, Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands

P. Schinco

Department of Medicine and Experimental Oncology, Haematology Section, University of Turin, Turin, Italy

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 addi tional 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 anti phospholipid antibodies the factor V Arg⁵⁰⁶ Gln mutation may play a major role in the occurrence of venous thrombosis.

Key Words: APA • factor V • arterial thrombosis • venous thrombosis

Lupus, Vol. 5, No. 4, 303-306 (1996)
DOI: 10.1177/096120339600500411


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