Primary Biliary Cirrhosis (PBC) is a relatively rare chronic liver disease with the characteristics of an autoimmune disease. The condition may lead to slowly increasing liver damage with the development of liver cirrhosis, and eventually result in liver failure and death. The name of the disease is confusing, as most patients do not show cirrhosis of the liver. The number of patients with this disease in the Netherlands is not well established; likely the number lies between 1500 and 2500. The disease presents in adults only; 90% of the patients are female. The diagnosis typically is made at middle age. The disease is sometimes found more or less by coincidence and it is by far not always associated with distinct symptoms. The most frequent signs and symptoms are fatigue and itching.
Many drugs have been studied for their effectiveness, but it appeared that many anti-inflammatory and immune modulating agents generally are little or not effective. Ursodeoxycholic acid (UDCA), on the other hand, has been established as an effective drug. In almost all patients administration of this bile acid leads to distinct improvement of the abnormal liver tests. On the basis of multiple studies UDCA treatment improves the long term prognosis of the disease. UDCA can be considered a natural medicine that is tolerated very well, also over a prolonged period of time. Important adverse side-effects have not been noted. A subset of patients does not respond adequately to UDCA and may need additional therapy. However, the optimal second line therapeutic strategy in PBC has not been established. Therapeutic options include the addition of budesonide, fibrates or FXR-agonists.
For patients with severely advanced disease, liver transplantation is an effective therapy.
A cohort study is ongoing in the Netherlands since 1990, coordinated from Erasmus MC. The aim of the study is to assess the long term course and prognosis of patients with PBC receiving ursodeoxycholic acid treatment. Many hospitals contribute to this study.