Prevalence of factor V Leiden in children with thrombo-embolism
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Prevalence of factor V Leiden in children with thrombo-embolism. / Aschka, I; Aumann, V; Bergmann, F; Budde, U; Eberl, W; Eckhof-Donovan, S; Krey, S; Nowak-Göttl, U; Schobess, R; Sutor, A H; Wendisch, J; Schneppenheim, R.
in: EUR J PEDIATR, Jahrgang 155, Nr. 12, 01.12.1996, S. 1009-14.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Prevalence of factor V Leiden in children with thrombo-embolism
AU - Aschka, I
AU - Aumann, V
AU - Bergmann, F
AU - Budde, U
AU - Eberl, W
AU - Eckhof-Donovan, S
AU - Krey, S
AU - Nowak-Göttl, U
AU - Schobess, R
AU - Sutor, A H
AU - Wendisch, J
AU - Schneppenheim, R
PY - 1996/12/1
Y1 - 1996/12/1
N2 - UNLABELLED: Hereditary resistance to the anticoagulatory action of activated protein C (APC resistance, APCR) was identified as a possible new thrombophilic factor in a high percentage (17%-60%) of young adults with thrombotic events. A single missense mutation (R506Q) due to a G/A transition (G1691A) in exon 10 of the factor V gene is regarded as the causative molecular defect, resulting in factor V Leiden which is correlated with APCR. Identification of this mutation by polymerase chain reaction-based methods is easy to perform and prevents pre-analytical and analytical errors in the coagulometric assay for APCR. Since the impact of this mutation in children with thrombo-embolic disease has not been determined to date, we initiated a multi centre prevalence study in two paediatric populations, with and without thrombo-embolic events. We compared 125 paediatric patients with thrombosis, divided into three different age groups (0 to < 0.5 years; > 0.5 to < 10 years; > 10 to < 18 years) with a normal population of 159 children. Although the mutation G1691A was found with an unexpectedly high prevalence of 12% in our normal controls, the prevalence was significantly higher in the age groups; 0 to < 0.5 years (26%) and > 10 to < 18 years (30%). In patients between > 0.5 and < 10 years the overall prevalence was similar to that of the control group (13%). However, in patients of this age with spontaneous thrombosis, G1691A was also a significant risk factor (5/17 approximately equal to 29%). Homozygosity for G1691A was detected in three patients but not in the control group. Including deficiencies of protein C, protein S, antithrombin, and the presence of anti-phospholipid antibodies, thrombosis was correlated with endogenous thrombophilic factors in 38/125 patients (30.4%).CONCLUSION: 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.
AB - UNLABELLED: Hereditary resistance to the anticoagulatory action of activated protein C (APC resistance, APCR) was identified as a possible new thrombophilic factor in a high percentage (17%-60%) of young adults with thrombotic events. A single missense mutation (R506Q) due to a G/A transition (G1691A) in exon 10 of the factor V gene is regarded as the causative molecular defect, resulting in factor V Leiden which is correlated with APCR. Identification of this mutation by polymerase chain reaction-based methods is easy to perform and prevents pre-analytical and analytical errors in the coagulometric assay for APCR. Since the impact of this mutation in children with thrombo-embolic disease has not been determined to date, we initiated a multi centre prevalence study in two paediatric populations, with and without thrombo-embolic events. We compared 125 paediatric patients with thrombosis, divided into three different age groups (0 to < 0.5 years; > 0.5 to < 10 years; > 10 to < 18 years) with a normal population of 159 children. Although the mutation G1691A was found with an unexpectedly high prevalence of 12% in our normal controls, the prevalence was significantly higher in the age groups; 0 to < 0.5 years (26%) and > 10 to < 18 years (30%). In patients between > 0.5 and < 10 years the overall prevalence was similar to that of the control group (13%). However, in patients of this age with spontaneous thrombosis, G1691A was also a significant risk factor (5/17 approximately equal to 29%). Homozygosity for G1691A was detected in three patients but not in the control group. Including deficiencies of protein C, protein S, antithrombin, and the presence of anti-phospholipid antibodies, thrombosis was correlated with endogenous thrombophilic factors in 38/125 patients (30.4%).CONCLUSION: 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.
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Factor V
KW - Humans
KW - Infant
KW - Mutation
KW - Polymerase Chain Reaction
KW - Polymorphism, Single-Stranded Conformational
KW - Prevalence
KW - Protein C Deficiency
KW - Risk Factors
KW - Thromboembolism
M3 - SCORING: Journal article
C2 - 8956934
VL - 155
SP - 1009
EP - 1014
JO - EUR J PEDIATR
JF - EUR J PEDIATR
SN - 0340-6199
IS - 12
ER -