Early-onset intrahepatic cholestasis of pregnancy resulting from a genetic mutation: A case report

Abstract

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific condition characterized by pruritus and elevated bile acids. It typically manifests in the third trimester of pregnancy and has been associated with hormonal and genetic factors. Early-onset ICP poses unique diagnostic challenges and may contribute to increased risks of adverse maternal and fetal outcomes. We present a case of severe ICP identified in the early second trimester and later attributed to a rare gene variant.

A 24-year-old patient (G3P0202) was admitted at 17 weeks of gestation with pruritis, abdominal pain, and jaundice. Laboratory studies were notable for elevated total and direct bilirubin as well as elevated bile acids. The patient's medical history included early-onset ICP accompanied by jaundice in all previous pregnancies. A cholestasis gene panel revealed an autosomal recessive variant in the ABCB11 gene, which encodes a bile salt export pump and is associated with benign recurrent intrahepatic cholestasis (BRIC). Throughout the duration of her pregnancy, the patient was co-managed with the hepatobiliary service, and her symptoms were adequately controlled with ursodeoxycholic acid, rifampin, and hydroxyzine. She labored spontaneously at 34 weeks of gestation and delivered a healthy infant.

This case underscores the importance of genetic evaluation in the assessment of atypical ICP, particularly in early-onset, recurrent, or treatment-refractory cases. It also highlights the need for multidisciplinary management of complex cases with obstetricians, hepatologists, and genetic counselors.