Germline mutations in the alternative pathway of complement predispose to HELLP syndrome.

ABSTRACT:

Background

HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is a severe variant of hypertensive disorders of pregnancy affecting approximately 1% of all pregnancies, and has significant maternal and fetal morbidity. Previously, we showed that upregulation of the alternative pathway of complement (APC) plays a role in HELLP syndrome. We hypothesize that HELLP syndrome follows a 2-hit disease model similar to atypical hemolytic uremic syndrome (aHUS), requiring both genetic susceptibility and an environmental risk factor. Our objective was to perform a comparative analysis of the frequency of APC activation and germline mutations in affected women and to create a predictive model for identifying HELLP syndrome.

Methods

Pregnant women with HELLP syndrome, a

SUBMITTER: Vaught AJ 

PROVIDER: S-EPMC5926944 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature