Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition. In PFIC children are not able to drain bile from the liver even though the large bile ducts are open (cholestasis). This gets worse over time. In recent years it was found that patients with PFIC have mutations in three genes, ATP8B1, ABCB11 and ABCB4. In some of the mutations, the liver, lung, intestine and ears can be affected.

This most often begins in infants less than 6 months of age and may get worse very quickly. But, some children start showing signs later, even as late as the teen years, and it progresses more slowly. Nearly all children with PFIC will need treatment before age 30.