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.


METHODS
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.


CONCLUSIONS
This case illustrates an unusual presentation of very severe intrahepatic cholestasis of pregnancy in a homozygous patient carrying bile salt export pump mutation.
Favre
Nathalie
N
From the CHU Clermont-Ferrand, Maternal Fetal Medicine Unit, Féedération de Gynécologie-Obstétrique, Hôtel-Dieu, the Department of Hepatology, Hôtel-Dieu, and the Department of Biochemistry; and the UMR CNRS 6247 GReD, Clermont Université, Clermont-Ferrand, France.
Abergel
Armand
A
Blanc
Pierre
P
Sapin
Vincent
V
Roszyk
Laurence
L
Gallot
Denis
D
D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis* / Q000235:genetics
C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters