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Blood, Vol. 92 No. 7 (October 1), 1998:
pp. 2353-2358
Different Risks of Thrombosis in Four Coagulation Defects
Associated With Inherited Thrombophilia: A Study of 150 Families
Ida Martinelli,
Pier Mannuccio Mannucci,
Valerio De Stefano,
Emanuela Taioli,
Valentina Rossi,
Francesca Crosti,
Katia Paciaroni,
Giuseppe Leone, and
Elena M. Faioni
From the Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and
Epidemiology Unit, IRCCS Maggiore Hospital and University of Milan,
Milan, Italy; New York University, Environmental Medicine, New York,
NY; and the Department of Hematology, Catholic University,
Rome, Italy.
Deficiency of the naturally occurring anticoagulant proteins, such
as antithrombin, protein C and protein S, and activated protein C
resistance due to the factor V Leiden gene mutation is associated with
inherited thrombophilia. So far, no direct comparison of the thrombotic
risk associated with these genetic defects is available. In this study,
we wish to compare the lifetime probability of developing thrombosis,
the type of thrombotic symptoms, and the role of circumstantial
triggering factors in 723 first- and second-degree relatives of 150 index patients with different thrombophilic defects. We found higher
risks for thrombosis for subjects with antithrombin (risk ratio 8.1, 95% confidence interval [CI], 3.4 to 19.6), protein C (7.3, 95% CI,
2.9 to 18.4) or protein S deficiency (8.5, 95% CI, 3.5 to 20.8), and
factor V Leiden (2.2, 95% CI, 1.1 to 4.7) than for individuals with
normal coagulation. The risk of thrombosis for subjects with factor V
Leiden was lower than that for those with all three other coagulation
defects (0.3, 95% CI, 0.1 to 1.6), even when arterial and superficial
vein thromboses were excluded and the analysis was restricted to deep
vein thrombosis (0.3, 95% CI, 0.2 to 0.5). No association between
coagulation defects and arterial thrombosis was found. The most
frequent venous thrombotic manifestation was deep vein thrombosis with
or without pulmonary embolism (90% in antithrombin, 88% in protein C,
100% in protein S deficiency, and 57% in factor V Leiden), but a
relatively mild manifestation such as superficial vein thrombosis was
common in factor V Leiden (43%). There was a predisposing factor at
the time of venous thromboembolism in approximately 50% of cases for each of the four defects. In conclusion, factor V Leiden is associated with a relatively small risk of thrombosis, lower than that for antithrombin, protein C, or protein S deficiency. In addition, individuals with factor V Leiden develop less severe thrombotic manifestations, such as superficial vein thrombosis.
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