First Trimester Recurrent Severe Cholestasis and Jaundice: A Case Report on ABCB11 Gene Mutation and hCG-Mediated Pathogenesis with Successful Management

Background Intrahepatic cholestasis of pregnancy (ICP) typically presents in the second or third trimester with pruritus and elevated serum bile acid levels, resolving postpartum. Early-onset ICP in the first trimester is rare and poses diagnostic and therapeutic challenges. Case presentation We report a case of a 25-year-old female patient who presented with recurrent severe cholestasis and jaundice during the first trimester of pregnancy. The patient had a history of similar symptoms during her first pregnancy, which resolved following termination. Patient’s liver function was normal when not pregnant. Comprehensive laboratory tests and imaging ruled out other potential causes of liver disease. Genetic sequencing revealed a heterozygous mutation in the ABCB11 gene, which is associated with impaired bile salt export pump (BSEP) function. The onset of symptoms correlated with elevated human chorionic gonadotropin (HCG) levels, indicating that HCG, rather than estrogen, is a major factor. The patient showed limited response to standard treatments, including ursodeoxycholic acid (UDCA) and S-adenosyl-L-methionine (SAMe). However, after treatment with cholestyramine, a bile acid sequestrant, her clinical condition improved significantly. Conclusions These findings suggest that severe cholestasis and jaundice in early pregnancy can be managed through symptomatic treatment and vigilant monitoring, ensuring the safety of both mother and fetus without the need for termination. Further studies are warranted to investigate the role of HCG in the pathogenesis of early-onset ICP.