Definition
Primary sclerosing cholangitis (PSC) is one of the so-called “autoimmune primary biliary liver diseases”. This disease is characterized by chronic inflammation of the small bile ducts inside and outside the liver. In the course of the disease, the inflammation leads to constriction and thus disruption of the bile flow. Finally, the primary sclerosing cholangitis leads to the destruction or degeneration of the small bile ducts, which in the late stages is transferred to the liver tissue and causes cirrhosis of the liver.
Causes
Currently, the exact causes of primary sclerosing cholangitis are still unknown. However, a frequent association with other autoimmune diseases, especially Crohn’s disease, is striking. Since there are also occasional family clusters of the disease pattern, it is now assumed that a possible genetic factor is involved in the development of primary sclerosing cholangitis. Both an exuberant reaction of the body’s own immune system (autoimmune reaction) to components of the bile ducts and individual hereditary tissue characteristics thus seem to play a role.
Inheritance
People affected by primary sclerosing cholangitis (PSC) often worry about a possible inheritance of the disease to their children. To date, however, science has not been able to identify any responsible genes or heredity. Nevertheless, an accumulation of the otherwise rare disease pattern can be observed in some families.
Furthermore, PSC is increasingly found in Scandinavian countries, so that here too, inheritance seems to play a role. Some medical studies estimate that first-degree relatives, i.e. the son or daughter of the affected person, also have an approx. 3-5 percent risk of developing primary sclerosing cholangitis. However, this rather unlikely inheritance possibility alone should not be a reason for childlessness.
Laboratory / Antibodies
Various blood values, such as antibodies, can provide laboratory evidence of primary sclerosing cholangitis. Especially the so-called “cholestasis parameters” can be elevated. They represent disturbances in bile formation as well as in bile flow.
Since the small bile ducts are successively narrowed by the disease and thus cause a congestion of the bile, the described cholestasis values are increased. These include alkaline phosphatase (AP), gamma-GT and possibly liver enzymes (transaminases: GOT, GPT). In the late stage, an increase in bilirubin can also be observed in the laboratory.
Due to the continuing inflammatory activity, most patients show an increased blood sedimentation rate. In some (approx. 60-80%) of the patients, so-called “p-ANCA” antibodies are also found as an expression of the body’s autoimmune reaction. Non-specific, but also elevated, “ANA” and “SMA” antibodies can still be found.
Symptoms
In the early stages, primary sclerosing cholangitis often proceeds without symptoms (asymptomatic). In the context of unclear upper abdominal complaints, such as painful pressure or nausea, affected patients often consult their doctor first. As the liver function may already be restricted, toxic breakdown products accumulate in the body.
As a result, those affected suffer from pronounced itching (pruritus) all over the body. The symptoms that are felt to be particularly restrictive include tiredness, a feeling of weakness and a significant reduction in performance. If the primary sclerosing cholangitis (PSC) persists for a longer period of time, patients often complain of unwanted weight loss.
In acute inflammation of the bile ducts (cholangitis), fever, severe upper abdominal pain or chills can be observed. In many cases, PSC is associated with other autoimmune diseases (e.g. ulcerative colitis, Crohn’s disease). Symptoms of these concomitant diseases, such as diarrhoea, abdominal pain or weight loss, can mask other complaints. In the late stages, symptoms of liver cirrhosis are impressive: jaundice, “water in the belly” (ascites) or even liver failure.
