Autoimmune Liver Diseases in Children

Autoimmune liver disease remains difficult to diagnose, and distinguishing the various causes is difficult as well. In children, it can present with wide variation, including autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and the "overlap syndrome" of AIH/PSC, also known as autoimmune sclerosing cholangitis. These liver disorders are thought to be immune-mediated, but their etiology remains unclear. They are not secondary to inherited or acquired diseases and they are not associated with any drugs, so they can only be diagnosed if these other diseases or conditions are excluded. Because there is considerable commonality in the clinical presentation of these diseases but differences in their management, appropriate treatment may be delayed, increasing the risk for liver transplantation. Further education for general pediatricians and trainees is needed. This article reviews the differences between AIH and PSC, as well as the newly recognized overlap syndrome of both of these diseases.