Mt. Sifontes et al., ACTIVATED PROTEIN-C RESISTANCE AND THE FACTOR-V-LEIDEN MUTATION IN CHILDREN WITH THROMBOSIS, American journal of hematology, 57(1), 1998, pp. 29-32
To determine the prevalence of activated protein C resistance and the
factor V Leiden mutation (position 1691, arginine 506 to glutamine sub
stitution) in children with thrombosis, plasma samples from children w
ith thrombosis were tested for activated protein C resistance. DNA was
analyzed for the factor V Leiden mutation, Five of 34 children (15%)
had activated protein C resistance; each was heterozygous for the fact
or V Leiden mutation, All 5 children heterozygous for the factor V Lei
den mutation suffered non-CNS venous thromboses comprising 21% of the
group of children (5/24) with non-CNS venous thrombotic events, Each o
f these 5 children had a family history of thrombosis, In conclusion,
children with non-CNS venous thrombosis should be evaluated for the fa
ctor V Leiden mutation, Children most likely affected are those with a
family history of thrombosis. (C) 1998 Wiley-Liss, Inc.