Clinical Features in 36 Patients Homozygous for the ARG 506 → GLN Factor V Mutation

Joseph Emmerich; Martine Alhenc-Gelas; Marie-Françoise Aillaud; Irène Juhan-Vague; Brigitte Jude; Jean-Marie Garcin; Marie Dreyfus; Moerloose Philippe de; Agnès Le Querrec; Pascal Priollet; Micheline Berruyer; Xavier Vallantin; Martine Wolf; Martine Aiach; Jean-Noël Fiessinger

doi:10.1055/s-0038-1656022

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1997; 77(04): 620-623
DOI: 10.1055/s-0038-1656022

Clinical Studies

Schattauer GmbH Stuttgart

Clinical Features in 36 Patients Homozygous for the ARG 506 → GLN Factor V Mutation

Joseph Emmerich

¹The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris

,

Martine Alhenc-Gelas

¹The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris

,

Marie-Françoise Aillaud

²The Laboratoire d’Hématologie, CHU La Timone, Marseille

,

Irène Juhan-Vague

²The Laboratoire d’Hématologie, CHU La Timone, Marseille

,

Brigitte Jude

³The Laboratoire d’Hématologie, Hôpital Cardiologique, Lille

,

Jean-Marie Garcin

⁴The Service de Pathologie cardio-vasculaire, Hôpital d’instruction des Armées Bégin, Saint-Mandé

,

Marie Dreyfus

⁵The Laboratoire d’Hématologie, Hôpital de Bicêtre

,

Moerloose Philippe de

⁶The Unité d’Hémostase, Hôpital cantonal universitaire, Genéve, Switzerland

,

Agnès Le Querrec

⁷The Laboratoire d’Hématologie, CHU de la Côte de Nacre, Caen

,

Pascal Priollet

⁸The Service d’Hypertension artérielle, Hôpital Saint-Joseph, Paris

,

Micheline Berruyer

⁹The Laboratoire d’Hémostase, Hôpital cardiologique Louis-Pradel, Lyon

,

Xavier Vallantin

¹⁰The Service d’Hématologie clinique, Centre hospitalier de Meaux

,

Martine Wolf

¹¹The ratoire d’Hématologie, Hôpital Antoine-Béclére, Clamart, France

,

Martine Aiach

¹The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris

,

Jean-Noël Fiessinger

¹The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris

› Author Affiliations

Abstract

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Summary

We analyzed the clinical features of 36 patients homozygous for the Arg 506 to Gin factor V mutation and found a circumstantial event at risk for thrombosis in 29 of the 31 patients with thrombosis. The most frequent predisposing factors were the post-partum period and the use of oral contraceptives in women, and surgery in both sexes. Venous thrombosis recurred in 48% of the patients. One patient had a myocardial infarction at age 33 years, and also had an antiphospholipid syndrome. Homozygous Gin 506 mutation leads to far less severe thrombotic complications than homozygous protein C and protein S deficiencies and does not seem to predispose patients to arterial thrombosis.

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References

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