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High risk of thrombosis in patients homozygous for factor V Leiden
(activated protein C resistance) [see comments]
FR Rosendaal, T Koster, JP Vandenbroucke and PH Reitsma
Hemostasis and Thrombosis Research Center, Leiden, The Netherlands.
Resistance to activated protein C (APC) is a common inherited risk factor
for venous thrombosis, which is associated with a mutation in coagulation
factor V (factor V Leiden). We investigated the risk of venous thrombosis
in individuals homozygous for this abnormality. We determined the factor V
Leiden genotype in 471 consecutive patients aged less than 70 years with a
first objectively confirmed deep-vein thrombosis and in 474 healthy
controls. We found 85 heterozygous and seven homozygous individuals among
the cases with thrombosis and 14 heterozygous individuals among the control
subjects. The expected number of homozygous individuals among the controls
was calculated from Hardy-Weinberg equilibrium and estimated at 0.107
(allele frequency, 1.5%). Whereas the relative risk was increased sevenfold
for heterozygous individuals, it was increased 80-fold for homozygous
individuals. These patients experienced their thrombosis at a much younger
age (31 v 44 years). The homozygous individuals were predominantly women,
most likely due to the effect of oral contraceptives. Because of the
increased risk of thrombosis with age, the absolute risk becomes most
pronounced in older patients, both for heterozygous and homozygous
individuals. For the homozygous individuals, the absolute risk may become
several percentage points per year. This implies that most individuals
homozygous for factor V Leiden will experience at least one thrombotic
event in their lifetime.
Volume 85,
Issue 6,
pp. 1504-1508,
03/15/1995
Copyright © 1995 by The American Society of Hematology
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