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Semin Thromb Hemost 1998; 24(4): 363-366
DOI: 10.1055/s-2007-996024
Copyright © 1998 by Thieme Medical Publishers, Inc.

Factor V:Q506 Mutation-Resistance to Activated Protein C (APC): Clinical Implications with Respect to Family Screening

Saskia Middeldorp* † , Jan van der Meer‡
  • *Center for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research,
  • †Department of Internal Medicine, Academic Medical Center, Amsterdam; and
  • ‡Department of Haematology, Division of Haemostasis, Thrombosis and Rheology, University Hospital Groningen, Groningen, The Netherlands
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Publication History

Publication Date:
06 February 2008 (online)

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Abstract

Resistance to activated protein C (APC), which is almost exclusively caused by a point mutation in the factor V gene (FV:Q506 mutation or FV Leiden) is a recently discovered, prevalent risk factor for the occurrence of venous thromboembolism. It is unknown whether relatives of known patients with this mutation should be screened for the presence of the mutation and what the consequences for asymptomatic carriers would be. This paper addresses the possible benefits and disadvantages of family screening of patients with venous thromboembolism who carry the mutation. Possible prophylactic strategies are discussed and weighed on the basis of estimated incidence rates of venous thromboembolism that are deduced from known relative risks and available population studies.

Keywords:

APC resistance - FV:Q506 mutation - factor V Leiden - venous thromboembolism - family screening

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