CASE REPORTS
JOURNAL ARTICLE
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Unusual presentation of severe intrahepatic cholestasis of pregnancy leading to fetal death.

BACKGROUND: We report an unusual presentation of intrahepatic cholestasis of pregnancy complicated by fetal death and associated with homozygous bile salt export pump polymorphism.

CASE: A secundigravida presented at 31 weeks of pregnancy with discrete pruritus and highly elevated bile acid levels (223 micromol/L) suggestive of intrahepatic cholestasis of pregnancy, despite normal serum aminotransferase levels. She had a 6-year history of ulcerative colitis, and her previous pregnancy (3 years before) had been uneventful. Initial contractions and vaginal bleeding subsided spontaneously, and corticosteroids were administered for fetal lung maturation. However, in utero fetal death occurred 9 hours after normal cardiotocography. Follow-up confirmed progressive decrease of bile acid level, but the aminotransferase levels remained elevated. Molecular biology revealed a homozygous mutation for bile salt export pump protein.

CONCLUSION: This case illustrates an unusual presentation of very severe intrahepatic cholestasis of pregnancy in a homozygous patient carrying bile salt export pump mutation.

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