Marián Oltman, Ľubomír Skladaný, Ľubomír Gürtler, Peter Jarčuška, Martin Janíčko
Primary sclerosing cholangitis is a potentially fatal autoimmune disease with unclear aetiology. Several environmental
triggers and perpetuators have been implicated in the disease occurrence. Currently, some of these factors are gaining
more recognition, especially the discovery of significant impact of the gut or bile duct microbiota. These environmental
factors then interact with the genetic background of the affected individual. Several gene loci, either HLA-related or
non-HLA related, have been identified that increase or also decrease the risk of the disease occurrence or progression.
In the management of the patient, the development of cholangiocarcinoma (CCA) is the dreaded clinical complication.
Currently, available therapies have not been shown to influence morbidity, mortality or time to liver transplant, which
is the only effective treatment option in the terminal stage of the disease or early diagnosis of CCA.