It is an inflammation of the small biliary ducts within the liver which, if not treated, may lead to cirrhosis of the liver. Since these days the disease is almost always diagnosed in the early stage, thus without cirrhosis, the name of the disease was changed in 2015 abandoning the word “cirrhosis”: primary biliary cirrhosis is now called primary biliary cholangitis.
It is considered a rare disease. The initial epidemiological data for Switzerland, collected by the doctors of the Epatocentro Ticino, will be published shortly. Nine out of 10 patients are women, as is often the case with autoimmune diseases.
The precise cause is unknown. The disease is probably triggered by a reaction of the immune system against normal components of the small biliary cells (cholangiocytes), in a genetically predisposed individual. A number of events probably occur before the disease manifests itself: since time is required for this happen, children are not affected by primary biliary cholangitis. In addition to genetic predisposition, risk factors are smoking and recurring urinary infections.
Classic disorders are tiredness and itching, but the majority of patients have no symptoms at the time of diagnosis.
The diagnosis is carried out by blood tests and, sometimes, liver biopsy. The most important marker is anti-mitochondrial autoantibodies, present in 95% of patients with PBC. Increased alkaline phosphatase in the blood is also extremely characteristic.
The treatment is based on ursodeoxycholic acid. It is a substance (biliary acid) already normally contained in human bile, but in an extremely low quantity. It is the only biliary acid that is non-toxic for the liver: by increasing it, through drugs, the content in the bile makes it less toxic. In about one-third of patients the disease is not controlled completely solely by ursodeoxycholic acid, for whom there are backup drugs. Cases requiring liver transplants are extremely rare nowadays.
Other autoimmune diseases are often present, which involve most frequently the thyroid and the salivary/lachrymal glands (Sjögren’s syndrome).