Maternal familial hypercholesterolaemia (FH) confers altered haemostatic profile in offspring with and without FH.

Introduction: Patients with familial hypercholesterolaemia (FH) are characterized by high total and LDL cholesterol. Pregnant women with FH have higher absolute levels of total and LDL cholesterol, and a more pro-coagulant pattern compared with healthy pregnant women. Maternal hypercholesterolaemia has been shown to affect early atherosclerosis formation in the offspring. The aim of the present study was to investigate whether maternal FH leads to differences in plasma or serum levels of haemostatic and fibrinolytic markers in children with and without FH born of mothers with FH compared to control children born of non-FH mothers.

Methods And Results: Children with (n=9) and without (n=7) FH born of mothers with FH, as well as control children (n=16) born of non-FH mothers were included in the study. The concentrations of tissue plasminogen activator, plasminogen activator inhibitor (PAI-1), tissue factor (TF), TF pathway inhibitor (TFPI), thrombomodulin, fibrinogen, prothrombin fragment 1+2 and von Willebrand Factor were measured. Our findings show i) higher levels of PAI-1 and TFPI in children with and without FH born of mothers with FH compared with control children, ii) lower levels of thrombomodulin in children with FH compared with control children, and iii) significant correlations between maternal PAI-1 levels during pregnancy and PAI-1 levels in the offspring.

Conclusions: We found that maternal FH may confer an unfavourable phenotype by affecting haemostatic and fibrinolytic markers in offspring independent of the children's FH status. However, the association between maternal hypercholesterolaemia and haemostatic risk markers in the offspring needs to be further elucidated.