The prevalence of the common LCHAD c.1528G>C p.(Glu510Gln) pathogenic variant in women diagnosed with acute fatty liver of pregnancy.

Abstract

The prevalence of the common LCHAD c.1528G>C p.(Glu510Gln) pathogenic variant in the HADHA gene in women and neonates with acute fatty liver of pregnancy is unclear. A review of nine case series comprising 113 pregnancies complicated by acute fatty liver of pregnancy, where maternal and/or fetal genetic testing was performed, found the LCHAD c.1528G>C p.(Glu510Gln) variant in only five cases (4.4%). In addition, an online survey disclosed no maternal and/or fetal pathogenic variants in 23 women who recalled the results of gene testing. Only a small minority of women with a clinical diagnosis of acute fatty liver of pregnancy have the common LCHAD c.1528G>C p.(Glu510Gln) variant on genetic testing.