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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
1   The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris
,
Martine Alhenc-Gelas
1   The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris
,
Marie-Françoise Aillaud
2   The Laboratoire d’Hématologie, CHU La Timone, Marseille
,
Irène Juhan-Vague
2   The Laboratoire d’Hématologie, CHU La Timone, Marseille
,
Brigitte Jude
3   The Laboratoire d’Hématologie, Hôpital Cardiologique, Lille
,
Jean-Marie Garcin
4   The Service de Pathologie cardio-vasculaire, Hôpital d’instruction des Armées Bégin, Saint-Mandé
,
Marie Dreyfus
5   The Laboratoire d’Hématologie, Hôpital de Bicêtre
,
Moerloose Philippe de
6   The Unité d’Hémostase, Hôpital cantonal universitaire, Genéve, Switzerland
,
Agnès Le Querrec
7   The Laboratoire d’Hématologie, CHU de la Côte de Nacre, Caen
,
Pascal Priollet
8   The Service d’Hypertension artérielle, Hôpital Saint-Joseph, Paris
,
Micheline Berruyer
9   The Laboratoire d’Hémostase, Hôpital cardiologique Louis-Pradel, Lyon
,
Xavier Vallantin
10   The Service d’Hématologie clinique, Centre hospitalier de Meaux
,
Martine Wolf
11   The ratoire d’Hématologie, Hôpital Antoine-Béclére, Clamart, France
,
Martine Aiach
1   The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris
,
Jean-Noël Fiessinger
1   The Laboratoire d’Hémostase and Service de Médecine Vasculaire, Hôpital Broussais, Paris
› Author Affiliations
Further Information

Publication History

Received 08 August 1996

Accepted after revision 09 December 1996

Publication Date:
26 July 2018 (online)

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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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