engleski

Is There a Difference in Inherited Prothrombotic Polymorphisms between Arterial Ischemic Stroke and Cerebral Sinus Venous Thrombosis in Children?

Background: Cerebral sinus venous thrombosis (CSVT) in children is a rare, but serious multifactorial disorder, associated with significant morbidity and mortality. The etiology of CSVT is not completely clarified. The role of inherited prothrombotic risk factors remains to be elucidated. To date, no difference in investigated inherited prothrombotic polymorphisms between arterial ischemic stroke (AIS) and CSVT in children was demonstrated. AIMS: The aim was to investigate whether CSVT and AIS in children share the same inherited prothrombotic polymorphisms. Methods: The study included 14 children with CSVT (7 boys and 7 girls) and 41 children with AIS (20 boys and 21 girls). Sixteen polymorphisms (FV Leiden, FV HR2, FII G20210A, MTHFR C677T, MTHFR A1298C, FXIII-A Val34Leu, PAI-1 4G/5G, EPCR haplotype, eNOS -786T>C, eNOS G894T, LTA C804A, ACE I/D, HPA-1, β-fibrinogen -455G>A, and apoE ε2- 4) were genotyped using a multilocus CVD Strip assay (ViennaLab, Austria). Results: Similar genotype distribution frequencies for majority of investigated polymorphisms (FV Leiden, FV HR2, FII G20210A, MTHFR C677T, FXIII-A Val34Leu, PAI-1 4G/5G, eNOS -786T>C, eNOS G894T, ACE I/D, β- fibrinogen -455G>A, and apoE ε2-4) were found in both patient groups. Higher frequencies of MTHFR 1298CC genotype, although nonsignificant (P=2.270), were identified in CSVT (0.14) compared to AIS (0.05). On contrary, LTA 804AA genotype (4/41) and EPCR A3 haplotype (7/41) were found only in children with AIS, but the associations were not significant (P=0.120 and P=0.172, respectively). Statistically significant difference of genotype distributions were obtained for HPA-1 (P=0.009), resulting in a 5.50-fold increased risk for CSVT (95% CI: 1.48-20.39). Conclusions: Although a relatively small number of children with CSVT was investigated, obtained results indicate that AIS and CSVT mostly share the same inherited prothrombotic polymorphisms. Results suggest that HPA-1, not yet identified as risk factor, could be involved in the etiology of CSVT in children.

pediatric stroke ; CSVT ; AIS ; prothrombotic risk factors ; polymorphisms

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