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Blood, Vol. 94 No. 8 (October 15), 1999:
pp. 2590-2594
Gene-Gene and Gene-Environment Interactions Determine Risk of
Thrombosis in Families With Inherited Antithrombin Deficiency
H.H. van Boven,
J.P. Vandenbroucke,
E. Briët, and
F.R. Rosendaal
From the Department of Clinical Epidemiology and Hemostasis and
Thrombosis Research Center, Leiden University Medical Center, Leiden,
The Netherlands; and the Department of Internal Medicine, Academic
Medical Center, Amsterdam, The Netherlands.
To analyze inherited antithrombin deficiency as a risk factor for
venous thromboembolism in various conditions with regard to the
presence or absence of additional genetic or acquired risk factors, we
compared 48 antithrombin-deficient individuals with 44 nondeficient
individuals of 14 selected families with inherited antithrombin
deficiency. The incidence of venous thromboembolism for antithrombin
deficient individuals was 20 times higher than among nondeficient
individuals (1.1% v 0.05% per year). At the age of 50 years,
greater than 50% of antithrombin-deficient individuals had experienced
thrombosis compared with 5% of nondeficient individuals. Additional
genetic risk factors, Factor V Leiden and PT20210A, were found in more
than half of these selected families. The effect of exposure to 2 genetic defects was a 5-fold increased incidence (4.6% per year; 95%
confidence interval [CI], 1.9% to 11.1%). Acquired risk factors
were often present, determining the onset of thrombosis. The incidence
among those with exposure to antithrombin deficiency and an acquired
risk factor was increased 20-fold (20.3% per year; 95% CI, 12.0% to
34.3%). In conclusion, in these thrombophilia families, the genetic
and environmental factors interact to bring about venous thrombosis.
Inherited antithrombin deficiency proves to be a prominent risk factor
for venous thromboembolism. The increased risks among those with
exposure to acquired risk factors should be considered and adequate
prophylactic anticoagulant therapy in high-risk situations seems
indicated in selected families with inherited antithrombin deficiency.
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