LAUSR

Intrahepatic cholestasis of pregnancy (ICP) is characterized by increased serum bile acid levels in the third trimester of pregnancy, and resolves quickly after delivery. We present the case of a 29-year-old woman who developed idiopathic liver damage during puberty, and subsequently ICP and severe pruritus during two pregnancies. DNA sequencing revealed a heterozygous deletion (c.393_delG) in the fibroblast growth factor receptor 4 (FGRF4) gene causing a premature stop codon. The resulting FGFR4 haploinsufficiency is likely to impede the enterohepatic feedback repression of hepatic bile acid synthesis via FXR and FGF19. It represents a new genetic etiology of ICP.