HELLP syndrome associated with factor V R506Q mutation.
The pathogenesis of HELLP (haemolysis, elevated liver enzyme and low platelet count) syndrome, a severe presentation of pre-eclampsia, is still an enigma. Activated protein C resistance resulting from a mutation in coagulation factor V has recently emerged as the leading cause of thrombosis in pregnancy. We report on two patients with HELLP syndrome who were found to be heterozygous for factor V R506Q mutation, leading to activated protein C resistance. These findings suggest that the pathogenesis of HELLP syndrome is associated with a thrombotic process, and point to the potential benefit of anti-thrombotic therapy in this condition.
Brenner
B
B
Thrombosis and Haemostasis Unit, Rambam Medical Centre, Haifa, Israel.
Lanir
N
N
Thaler
I
I
D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D017359:HELLP Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011486:Protein C / Q000235:genetics
D011486:Protein C; D005165:Factor V