The occurrence of
cholestasis during pregnancy may be due to several disorders. These include pregnancyspecific diseases, like
intrahepatic cholestasis of pregnancy(ICP), as well as to other causes such as oligosymptomatic choledocolitiasis, viral
hepatitis and other underlying liver disorders like
primary biliary cirrhosis. In recent years, the discovery of mutations in hepatobiliary transporters genes responsible of some rare forms of genetic
cholestasis have led to the study of this mutations in pregnant women with
cholestasis. Thus, mutations in the hepatic
phospholipid transporter(MDR3, ABCB4), in the
aminophospholipid transporter ATP8B1 and in the
bile salt export pump (BSEP, ABCB11) have been found in patients diagnosed as ICP. However, patients included in these studies belong to a heterogeneous population, which may not represent true cases of ICP since some reports include patients diagnosed in the first trimester of pregnancy, with elevated serum levels of
gamma-glutamyl transpeptidase and clear evidence of chronic
liver disease. Thus, consideration must be given to the possibility of other rare underlying hepatic disorders may be unmasked during pregnancy with
cholestasis as its first manifestation.