VIDEO: Understanding genetic, environmental factors of biliary diseases

Editor’s note: This is an automatically generated transcript, which has been slightly edited for clarity. Please notify editor@healio.com if there are concerns regarding accuracy of the transcription.

In the pediatric group, of course, there are mutations that develop and result in primary familial intrahepatic cholestasis syndromes. There are quite a number of them: FIC1, FIC2, FIC2, FIC4, etc.

But they’re all rare diseases. They’re homozygous deficiencies in various transporters such as the bile salt export pump. There’s an ATPase responsible for FIC1 bile salt export pump mutation; for FIC2, MDR3 mutation, which is a phospholipid export pump. For FIC3, I believe there are mutations in FXR.

For FIC4, tight-junction-associated protein is another mutation where progressive familial intrahepatic cholestasis occurs in the infant. Environmental issues are thought to play a role with disorders like primary biliary cholangitis. There is increased prevalence of the disease around our Superfund sites in the United States, for example, suggesting there may be an environmental contaminant [that] may be an initiating factor in the disease.

In England, in the coalmining areas near Newcastle, there’s epidemiologic data that suggests that cadmium may be playing a role, but these are all difficult to pin down in terms of specificity.