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Thromb Haemost 1995; 74(02): 580-583
DOI: 10.1055/s-0038-1649778
Rapid Communication
Schattauer GmbH Stuttgart

Factor V Leiden: An Additional Risk Factor for Thrombosis in Protein S Deficient Families?

B P C Koeleman
The Hemostasis and Thrombosis Research Center, Department of Hematology, University Hospital, Leiden, The Netherlands
,
D van Rumpt
1   Ziekenhuis Velp, University of Limburg, Maastricht, The Netherlands
,
K Hamulyák
2   Department of Biochemistry and Hematology, University of Limburg, Maastricht, The Netherlands
,
P H Reitsma
The Hemostasis and Thrombosis Research Center, Department of Hematology, University Hospital, Leiden, The Netherlands
,
R M Bertina
The Hemostasis and Thrombosis Research Center, Department of Hematology, University Hospital, Leiden, The Netherlands
› Author Affiliations
Further Information

Publication History

Received 30 December 1994

Accepted 02 March 1995

Publication Date:
03 July 2018 (online)

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Summary

We recently reported a high prevalence of the FV Leiden mutation (R506Q, responsible for Activated Protein C resistance) among symptomatic protein C deficient probands (19%), and the involvement of the FV Leiden mutation in the expression of thrombophilia in six protein C deficient families. Here, we report the results of a similar study in protein S deficient probands and families. Among 16 symptomatic protein S deficient probands the prevalence of the FV Leiden mutation was high (38%). This high prevalence is significantly different from that in the normal population, and is probably caused by the selection of probands for familial thrombosis and protein S deficiency. In 4 families, the segregation of the FV Leiden mutation and the protein S deficiency could be studied. In sibships where both abnormalities were segregating, the percentage of symptomatic individuals with both abnormalities was 80%. Three of the seven subjects with only the FV Leiden mutation, and two out of the three subjects with only protein S deficiency had developed thrombosis. These results indicate that in the families presented here the combination of the FV Leiden mutation and the protein S deficiency is associated with a high risk for thrombosis. A reliable estimate of the penetrance of the single defects is not possible, because the number of individuals with a single defect is too low.

 

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