engleski

Inherited thrombophilia polymorphisms associated with elevated lipoprotein (A) levels in pediatric arterial ischemic stroke

Pediatric arterial ischemic stroke (AIS) is a relatively rare disease with multifactorial etiology, increasingly recognized as an important cause of childhood disability and lifelong morbidity. Although elevated lipoprotein (a) (Lp(a)) has been identified as a risk factor for pediatric AIS, available data for perinatal AIS are limited. This prompted us to investigate if elevated Lp(a) (> 0.3 g/L) levels are more frequently associated with: a) perinatal or childhood AIS, b) specific inherited thrombophilia polymorphisms. Lp(a) concentration was determined in 70 children (29 girls, 41 boys) with perinatal (n=32) and childhood AIS (n=38) using a latex immunoturbidimetric assay Tina-quant Lipoprotein (a) on Cobas c501 (Roche Diagnostics, Switzerland). Genotype analysis of 11 polymorphisms (FV Leiden, FV HR2, FII G20210A, β- fibrinogen -455G>A, FXIII-A Val34Leu, PAI-1 4G/5G, HPA-1, MTHFR C677T, MTHFR A1298C, ACE I/D, apoE ε2-4) was performed using a multilocus CVD Strip assay (ViennaLab, Austria). Elevated Lp(a) levels (median: 0.58 g/L, range: 0.35-1.92 g/L) were identified in 18/70 (25.7%) children. The majority of them (14/18) had childhood AIS (median: 0.62 g/L, range: 0.35-1.92 g/L) compared to only 4 perinatal AIS cases (median: 0.46 g/L, range: 0.35-0.96 g/L), resulting in statistical significance (P=0.028). In children with perinatal AIS, elevated Lp(a) levels were significantly associated with MTHFR 1298CC genotype (P=0.012). Apo ε2ε3 genotype was more frequently found in children with elevated Lp(a) levels (5/18 compared to 5/52), both in childhood and perinatal AIS. In contrast, apo ε3ε4 genotype was more frequently detected in children with normal Lp(a) levels (9/52 compared to 1/18). FV Leiden heterozigosity was identified in children with normal Lp(a) (7/52), only. This study revealed that elevated Lp(a) levels were more frequently associated with childhood AIS and that two specific polymorphisms, MTHFR 1298CC for perinatal stroke and apo ε2ε3 for pediatric stroke, were more frequently linked to elevated Lp(a).

Lipoprotein (A) ; pediatric arterial ishemic stroke ; thrombophilia

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