title: Intrahepatic cholestasis of pregnancy: when should you look further?
abstract: Pruritus with abnormal liver function tests is the classical presentation of intrahepatic cholestasis of pregnancy (ICP), a condition associated with significant fetal complications. Although the etiology of ICP is unclear in many cases, certain features of the clinical presentation should alert the practitioner to the possibility of an underlying metabolic defect, which may not only affect subsequent pregnancies, but may be an indicator of more serious subsequent liver disease. We report a kindred of Anglo-Celtic descent, among whom many members present with ICP, gallstones or cholestasis related to use of oral contraception. Genetic studies revealed a novel mutation in the ABCB4 gene, which codes for a phospholipid transport protein. The clinical significance of this mutation and the importance of identifying such patients are discussed.
authors.affiliation: Victorian Liver Transplant Unit, Austin Hospital, Melbourne 3084, Australia. winita.hardikar@rch.org.au
authors.forename: Winita
authors.initials: W
authors.lastname: Hardikar
authors.forename: Shivani
authors.initials: S
authors.lastname: Kansal
authors.forename: Ronald P J
authors.initials: RP
authors.lastname: Oude Elferink
authors.forename: Peter
authors.initials: P
authors.lastname: Angus
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D000328:Adult; D002780:Cholestasis, Intrahepatic / Q000453:epidemiology* / Q000235:genetics; D004247:DNA / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology* / Q000235:genetics
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D004247:DNA; C095122:multidrug resistance protein 3