Gonzalez Alyssa, Fant Courtney, Waks Ashten, Le Thao, Steller Jonathan G
Department of Obstetrics and Gynecology, University of California Irvine Medical Center, 3800 W Chapman Ave, Ste 3400, Orange, CA 92868, USA.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of California Irvine Medical Center, 3800 W Chapman Ave, Suite 3400, Orange, CA 92868, USA.
Case Rep Womens Health. 2025 May 13;46:e00714. doi: 10.1016/j.crwh.2025.e00714. eCollection 2025 Jun.
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.
妊娠肝内胆汁淤积症（ICP）是一种妊娠特有的疾病，其特征为瘙痒和胆汁酸升高。它通常在妊娠晚期出现，并与激素和遗传因素有关。早发型ICP带来了独特的诊断挑战，可能会增加母婴不良结局的风险。我们报告一例在妊娠中期早期确诊的严重ICP病例，该病例后来归因于一种罕见的基因变异。一名24岁患者（G3P0202）在妊娠17周时因瘙痒、腹痛和黄疸入院。实验室检查显示总胆红素和直接胆红素升高以及胆汁酸升高。患者的病史包括既往所有妊娠均伴有黄疸的早发型ICP。一项胆汁淤积症基因检测显示ABCB11基因存在常染色体隐性变异，该基因编码一种胆盐输出泵，与良性复发性肝内胆汁淤积症（BRIC）相关。在整个孕期，该患者由肝胆科共同管理，其症状通过熊去氧胆酸、利福平和羟嗪得到了充分控制。她在妊娠34周时自然分娩，产下一名健康婴儿。该病例强调了基因评估在非典型ICP评估中的重要性，尤其是在早发型、复发性或治疗难治性病例中。它还凸显了对于产科医生、肝病学家和遗传咨询师对复杂病例进行多学科管理的必要性。
