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Blood, 1 October 2005, Vol. 106, No. 7, pp. 2363-2365. Prepublished online as a Blood First Edition Paper on June 16, 2005; DOI 10.1182/blood-2005-04-1461. This Article Full Text (PDF) All Versions of this Article: 2005-04-1461v1 106/7/2363    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Simioni, P. Articles by Bernardi, F. Search for Related Content PubMed PubMed Citation Articles by Simioni, P. Articles by Bernardi, F. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted April 11, 2005 Accepted June 2, 2005 An underestimated combination of opposites resulting in enhanced thrombotic tendency Paolo Simioni*, Elisabetta Castoldi, Barbara Lunghi, Daniela Tormene, Jan Rosing, and Francesco Bernardi Department of Medical and Surgical Sciences, 2nd Chair of Internal Medicine, University of Padua Medical School, Padua, Italy Department of Biochemistry, Cardiovascular Research Institute, Maastricht University, Maastricht, The Netherlands Department of Biochemistry and Molecular Biology, University of Ferrara, Ferrara, Italy * Corresponding author; email: paolo.simioni{at}unipd.it. Heterozygous carriers of Factor V (FV) Leiden who also carry FV deficiency often develop venous thromboembolism, but the thrombosis risk associated with this rare condition (pseudo-homozygous APC resistance) is still unclear. The thrombosis risk of genetically characterized pseudo-homozygotes (n=6) was compared to that of FV Leiden heterozygotes (n=683) and homozygotes (n=50) recruited within a large cohort study on familial thrombophilia. Both thrombin generation and Kaplan-Meier thrombosis-free survival analysis were performed in different FV genotype groups. Factor V Leiden pseudo-homozygotes showed significantly higher thrombosis risk than heterozygotes. The thrombin generation test in pseudo-homozygotes showed a pattern similar to homozygotes. Accordingly, early thrombotic manifestations occurred in pseudo-homozygotes at a similar rate as in homozygotes. Thus, failure to recognize FV deficiency in FV Leiden heterozygotes may result in underestimate of the thrombosis risk and inadequate management of affected patients. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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