Aggravation of ABCB4 associated intrahepatic cholestasis of pregnancy due to coinheritance of functional ABCB11 and FXR variants

Introduction Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder with a strong genetic background. Variants in hepatobiliary transporter genes, e.g. the phospholipid transporter ABCB4 and the bile salt export pump ABCB11, have been associated with ICP, as have functional variants of FXR (nuclear receptor 1H4), the central bile salt sensor. Herein, we report on an exceptional familial clustering of ICP related variants in three distinct genes and discuss putative implications. Case presentation A 36-years old primigravida was referred in her third trimester for severe pruritus and elevated liver…