Genetische Faktoren beim HELLP-Syndrom – eine kritische Übersicht

Abstract

HELLP syndrome is a severe form of preeclampsia with a typical triad of hemolysis (H), elevated liver enzymes (EL) and low platelets (LP, thrombocytopenia < 100 000/μl) and remains a leading cause of maternal and perinatal mortality and morbidity, especially of preterm birth. The etiology and the underlying pathogenetic mechanisms are still unclear. Preeclampsia and HELLP syndrome have a clear genetic component, and immune maladaptation, placental ischemia and increased oxidative stress may all have genetic implications. Genetic research into preeclampsia and HELLP syndrome has focused on genome-wide linkage studies, the analysis of candidate genes and gene expression profiling. From the results obtained to date, it seems likely that not one single gene but rather a panel of different genetic determinants accounts for the susceptibility for HELLP syndrome and preeclampsia. Despite extensive research into preeclampsia and HELLP syndrome during the last decade, the exact genetic mechanisms are still unknown. This may at least in part be explained by the methodological problems of genetic association studies. Large multi-center studies including fetal and maternal genotyping and genome-wide association studies will be required to validate possible associations with preeclampsia and HELLP syndrome.