Thrombosis in otherwise well children with the factor V Leiden mutation.
OBJECTIVE
To determine whether resistance to activated protein C caused by the factor V Leiden mutation (Arg506 to Gln) is associated with thrombosis occurring during childhood.


METHODS
Children with thrombosis were screened for activated protein C resistance. Children found resistant to activated protein C had DNA analysis for the factor V Leiden mutation. Family members of the children with activated protein C resistance were similarly studied.


RESULTS
Three of fourteen children examined had abnormal normalized activated protein C sensitivity ratios. One child had protein S deficiency. The children had hyperlipidemia. Molecular confirmation of the factor V Leiden mutation was obtained for all three children. Family members of each of the three children were affected.


CONCLUSIONS
Children have thromboses in association with the factor V Leiden mutation, as do adults. This mutation may be identified as an isolated risk factor or in association with other risk factors for thrombosis.
Sifontes
M T
MT
Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80218, USA.
Nuss
R
R
Jacobson
L J
LJ
Griffin
J H
JH
Manco-Johnson
M J
MJ
D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D016022:Case-Control Studies; D002648:Child; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011486:Protein C / Q000378:metabolism; D012307:Risk Factors; D013927:Thrombosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V