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HELLP syndrome associated with factor V R506Q mutation
Author(s) -
Brenner Benjamin,
Lanir Naomi,
Thaler Israel
Publication year - 1996
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1996.410947.x
Subject(s) - hellp syndrome , medicine , pathogenesis , preeclampsia , haemolysis , protein c , factor v leiden , factor v , activated protein c resistance , coagulation , mutation , immunology , gastroenterology , pregnancy , thrombosis , venous thrombosis , biology , genetics , gene
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.