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Intrahepatic cholestasis of pregnancy in conjunction with a frameshift deletion in FGFR4

Syeda Saima Batool1, Marc Dauer1, Susanne Nicole Weber1

  • 1Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany.

Clinics and Research in Hepatology and Gastroenterology
|September 13, 2021
PubMed

Intrahepatic cholestasis of pregnancy (ICP) is characterized by increased serum bile acid levels in the third trimester of pregnancy and resolves quickly after delivery. Here, 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.

Keywords:
Bile acidsFibroblast growth factor receptor 4Gene variantIntrahepatic cholestasis of pregnancy

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