Prevalence of factor V Leiden in children with thrombo-embolism

Abstract

Our results emphasize the impact of factor V Leiden on thrombogenesis in children. However, the significance is age-dependent and may reflect the different physiology of haemostasis in the three age groups. The diagnostic workup of children with thrombosis should include tests for factor V Leiden. The correlation of factor V Leiden with the clinical course of thrombo-embolism in children is essential to establish rational guidelines for therapy and prophylaxis of APCR-related thrombosis which are not yet available.

Cerebral venous sinus thrombosis in infancy and childhood: role of genetic and acquired risk factors of thrombophilia

“…These data are consistent with the high incidence of genetically determined familial thrombophilia in children with venous thrombosis [3,20,33,42,47], childhood stroke [35] and with perinatal porencephaly [13].…”

“…1 MRI showing thrombus formation located in the right transversal sinus in a female neonate with familial protein C type I de®ciency However, considering the overall high frequency of genetic risks for familial thrombophilia including FV: Q 506 in healthy subjects and the low incidence of thrombo-embolic complications, it is unlikely that one single defect is sucient in itself to cause thromboembolism. Re¯ecting recently published ®ndings [3,23,27,35,42,43,47,49], possibly contributing risk factors were found in 31 out of 32 subjects investigated.…”

Prothrombin G20210A Gene Mutation and Further Prothrombotic Risk Factors in Childhood Thrombophilia

“…In the current study, the carrier frequencies of these prothrombotic defects were each in the same range as for adult patients and confirm earlier reports of smaller studies on childhood thrombophilia. 1,2,[12][13][14][17][18][19][20][21][23][24][25][26] The only exception from this general finding was the carrier frequency of protein C deficiency, which was found to be relatively high in the patients investigated here, especially in patients with spontaneous thrombosis. On the one hand, this may be attributed to the small number of patients; on the other hand, according to the trend toward higher carrier frequencies of all risk factors in the spontaneous thrombosis group, this finding may reflect the high importance of protein C deficiency for young patients.…”

Neonatal thrombosis

“…This is illustrated in a study by Aschka et al, who examined the prevalence of the factor V Leiden mutation in 125 infants and children with a variety of thromboembolic events, and noted an increased prevalence of this mutation in the age groups 0-0.5 years and 10-18 years. 18 Similarly, Nowak-Gottl et al recorded a high incidence of inherited thrombophilia in catheter related thrombotic events in infants and children ranging in age from neonates to 18 years. 19 This contrasts with data presented recently by Manco-Johnson et al in a study exclusively in neonates, where no such association with catheter related events could be found.…”