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Thromb Haemost 1999; 81(02): 198-202
DOI: 10.1055/s-0037-1614442
Review Articles
Schattauer GmbH

Incidence of Venous Thromboembolism in Families with Inherited Thrombophilia

Paolo Simioni
1   From the Department of Medical and Surgical Sciences, University Hospital of Padua, Italy
,
Bernd-Jan Sanson
2   Department of Clinical Epidemiology and Biostatistics Amsterdam, The Netherlands
,
Paolo Prandoni
1   From the Department of Medical and Surgical Sciences, University Hospital of Padua, Italy
,
Daniela Tormene
1   From the Department of Medical and Surgical Sciences, University Hospital of Padua, Italy
,
Philip W. Friederich
2   Department of Clinical Epidemiology and Biostatistics Amsterdam, The Netherlands
,
Bruno Girolami
1   From the Department of Medical and Surgical Sciences, University Hospital of Padua, Italy
,
Sabrina Gavasso
1   From the Department of Medical and Surgical Sciences, University Hospital of Padua, Italy
,
Menno V. Huisman
3   Centre for Haemostasis, Thrombosis, Atherosclerosis, and Inflammation Research, Academic Medical Centre, Amsterdam, The Netherlands
,
Harry R. Büller
3   Centre for Haemostasis, Thrombosis, Atherosclerosis, and Inflammation Research, Academic Medical Centre, Amsterdam, The Netherlands
,
Jan Wouter ten Cate
3   Centre for Haemostasis, Thrombosis, Atherosclerosis, and Inflammation Research, Academic Medical Centre, Amsterdam, The Netherlands
,
Antonio Girolami
1   From the Department of Medical and Surgical Sciences, University Hospital of Padua, Italy
,
Martin H. Prins
2   Department of Clinical Epidemiology and Biostatistics Amsterdam, The Netherlands
› Author AffiliationsThis paper is supported in part by Grant from Regione del Veneto, Giunta Regionale, Ricerca Sanitaria Finalizzata n. 483/03/94 and 783/01/97, Venezia, Italy (to PS).
Further Information

Publication History

Received25 May 1998

Accepted after resubmission30 October 1998

Publication Date:
08 December 2017 (online)

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Summary

The risk of spontaneous or risk-period related venous thromboembolism in family members of symptomatic carriers of antithrombin (AT), protein C (PC) or protein S (PS) defects, as well as of the Factor V Leiden mutation is still undefined. We performed a retrospective cohort study in family members (n = 793) of unselected patients with a documented venous thromboembolism and one of these deficiencies to make an estimate of this risk. The annual incidences of total and spontaneous venous thromboembolic events in carriers of AT, PC or PS defects (n = 181) were 1.01% and 0.40%, respectively, as compared to 0.10% and 0.04% in non-carriers, respectively (relative risks both 10.6). In carriers of Factor V Leiden (n = 224), the annual incidences of total and spontaneous venous thromboembolism were 0.28% and 0.11%, respectively, as compared to 0.09% and 0.04% in non-carriers, respectively (relative risks 2.8 and 2.5). Additional risk factors (immobilisation, surgery and trauma; oral contraceptive use; and pregnancy/ post-partum) increased the risk of thrombosis in carriers of AT, PC and PS defects as compared to non-carriers (relative risks 8.3, 6.4 and 8.2, respectively). Oral contraceptive use and pregnancy/ post-partum period increased the risk of thrombosis in carriers of Factor V Leiden to 3.3-fold and 4.2-fold, respectively, whereas other risk factors had only a minor effect.

These data lend some support to the practice of screening family members of symptomatic carriers of a AT, PC and PS deficiency. For family members of symptomatic carriers of Factor V Leiden, screening does not seem to be justified except for women in fertile age.

 

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