Primary biliary cholangitis: what it is, who it affects and how it is treated

It is considered a rare pathology and, as such, it is also little known, so that diagnostic delay is often not without consequences. “There Primary biliary cholangitis is a subtle disease because most patients present alone mild, nonspecific symptoms and therefore not immediately recognizable. This allows the disease to progress and cause chronic cholestasis, i.e. the stagnation of bile in the liver, which over two or three decades can lead to liver cirrhosis and its decompensation, requiring a liver transplantation as the only possible treatment », explains Professor Domenico Alvarofull professor of Gastroenterology and dean of the Faculty of Medicine and Dentistry of the La Sapienza University of Rome. “There is certainly one at the base genetic predisposition, but some external factor, still unknown but capable of triggering the disease, seems to play an important role in this. Several researchers point the finger at some chemical agents present in lacquers for hair, in nail polishes and in paints, while other experts hypothesize a link with some viral agent. But we are still in the research phase, there are no certainties ».

What is Primary Biliary Cholangitis

“From an epidemiological point of view, a pathology that affects less than 50 people out of 100 thousand is defined as rare and primary biliary cholangitis is fully part of it, because in terms of prevalence it affects about 30-40 individuals out of 100 thousand. The problem lies in the large “submerged” that does not come to light due to the absence in the early stages of symptoms or the increase in alkaline phosphatase, ALP, for which it is feared that the prevalence of the disease may be 20 to 100 times higher compared to known diagnoses », Professor Alvaro warns.

But what is it about? Primary biliary cholangitis is one immune-mediated pathologycharacterized by a immune system dysfunction which causes the organism to attack its own structures: “In this case, the small bile ducts inside the liver are targeted, very thin tubes in the order of 0.1 millimeters inside which the bile flows.” Thus, the latter fails to flow, accumulates in the liver (cholestasis), inflames the liver and makes it fibrotic, that is, it hardens, opening the way to cirrhosis.

What are the symptoms not to be underestimated

In the early stages of the disease, i symptoms are few and vague: «Often the only warning is there fatigue, that is a feeling of extreme physical, emotional and cognitive fatigue, not proportionate to the activity carried out, so exhausting as to interfere with the performance of normal daily activities. But it is a non-specific symptom, common to many other medical conditions “, specifies the expert.

“However, since there is a familiarity for primary biliary cholangitis, those with cases in the family must pay more attention to a exhaustion that does not passespecially in the age group 40-60 years, the most at risk»Recommends Professor Alvaro. Another non-specific symptom is itching, which generally appears at night in the trunk, due to an accumulation in the blood and other tissues of substances normally secreted by the bile ». Sometimes, however, no physical symptoms are present, so the only way to suspect the disease is to detect an alteration in liver values ​​(ALT, AST, ALP) in common blood tests, perhaps performed routinely or for other reasons .

How to get to the diagnosis

The diagnostic suspicion can be confirmed with a simple blood sampling to measure anti-mitochondrial antibodies (AMA), antibodies directed against those organelles present in the cells (mitochondria) necessary to produce the energy useful for the cells themselves to grow and reproduce. “The immune attack is directed above all against the cells that line the small bile ducts of the liver and AMAs represent an important and specific marker for primary biliary cholangitis”. If they are positive, together with the increase of ALP in the blood, there is confirmation of the diagnosis of primary biliary cholangitis without the need for a biopsy.

Because women are more prone

The disease mainly affects women (with an 8: 1 ratio compared to men), because the female sex is more at risk of contracting autoimmune diseases both for the dysfunction of some genes located in the sex chromosomes and for the important role played by sex hormones (including estrogen) in the triggering mechanism of the disease and in its evolution.

How many types of primary biliary cholangitis exist

Exist different variants of primary biliary cholangitis: a form that leads to the early destruction and disappearance of small bile ducts (duttopenic variant), a form in which the inflammatory infiltrate in the portal spaces dominates and a form in which inflammation also erodes the inside of the hepatic lobule, which in the most aggressive form is expressed in the association syndrome (overlap) with autoimmune hepatitis. The latter is the form that most quickly leads to cirrhosis.

How biliary cholangitis is treated

The earlier the disease is diagnosed, the more effective the treatment. “In recent years, important advances have been made in the treatment of primary biliary cholangitis, thanks to the development of second-line treatments, such as obeticholic acid and other drugs still in the experimental phase,” says Professor Alvaro.

“The first-line treatment remains theursodeoxycholic acid, well tolerated, almost free of side effects and to be taken chronically. After 6-12 months from the start of the treatment, it is assessed whether the disease markers (ALP) have normalized: if so, we are quite certain that the progression of the disease has been arrested; otherwise, obeticholic acid is associated with ursodeoxycholic acid, which is effective in at least 50% of patients who did not respond to the first drug “.

How do you live with primary biliary cholangitis

Thanks to the therapies currently available, the disease progression is limited in over 80% of patients. “Sometimes nonspecific symptoms, ie tiredness and itching, may persist. While for the second there are drugs that can keep it under control, the fatigue it is still difficult to control. However, thanks to the treatments, on the whole the quality of life of many patients is absolutely good ».

No food deprivation is required, either, except avoid alcohol as in all liver diseases, no particular precautions, apart from not taking certain drugs (antibiotics that combine amoxicillin + clavulanic acid and non-steroidal anti-inflammatory drugs, known as NSAIDs) which can worsen liver damage.

«Last forethought concerns screenings for other associated autoimmune diseases. Since immune-mediated diseases tend to be associated with each other, primary biliary cholangitis can occur together with autoimmune thyroiditis, celiac disease, some forms of arthritis, Sjögren’s syndrome and, rarely, chronic intestinal diseases », concludes the expert. «Furthermore, as in all chronic liver diseases, in the long run there is the risk of developing a hepatocarcinomathat is, a tumor of the liver, which however is usually diagnosed early thanks to the periodic ultrasound checks to which patients are routinely subjected ».