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 μmol/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.
An unusual presentation of severe intrahepatic cholestasis of pregnancy leads to fetal death and reveals a homozygous status for bile salt export pump polymorphism.
From the CHU Clermont-Ferrand, 1Maternal Fetal Medicine Unit, Féedération de Gynécologie-Obstétrique, Hôtel-Dieu, the 2Department of Hepatology, Hôtel-Dieu, and the 3Department of Biochemistry; and the 4UMR CNRS 6247 GReD, Clermont Université, Clermont-Ferrand, France.
The authors thank Dr. Christiane Baussan and Dr. Anne Spraul from Laboratoire de Biochimie, Centre Hospitalier, Universitaire de Bicêtre (France), and Dr. Marie Gerhardt from Notre Dame du Bon Secours, Hôpital Saint-Joseph, Paris, for their valuable cooperation on the biological analyses.
Corresponding author: Prof. Denis Gallot, Unité de Médecine Foetale, Maternité Hôtel-Dieu, CHU, Boulevard Léon Malfreyt, 63058 Clermont-Ferrand Cedex, France; e-mail: firstname.lastname@example.org.
Financial Disclosure The authors did not report any potential conflicts of interest.