On January 21, 2026, in Medycyna Praktyczna mp.pl, Prof. Piotr Socha, pediatrician and gastroenterologist, Deputy Director for Scientific Affairs at the CMHI, presented the latest guidelines for the diagnosis and treatment of Wilson’s disease issued under the auspices of The European Association for the Study of the Liver (EASL) and the European Reference Network – Rare Liver (ERN).
“The document is particularly valuable because it identifies the strength of scientific evidence and points to the need for further research in specific areas. This is a particular challenge in rare diseases, as it is extremely difficult to conduct high-quality randomized trials,” says Prof. Piotr Socha, the lead author of the EASL guidelines on Wilson’s disease.”
Source: mp.pl
Socha Piotr, Jańczyk Wojciech, Zanetto Alberto, Burra Patrizia, Członkowska Anna, Debray Dominique, Ferenci Peter, Merle Uta, Nicastro Emanuele, Poujois Aurelia, Schmidt Hartmut, Tsochatzis Emmanuel
EASL-ERN Clinical Practice Guidelines on Wilson’s disease
Journal of Hepatology
Szczegóły: 2025 : Vol. 82, Nr 4, s. 690-728
“The April issue of the Journal of Hepatology published European guidelines on Wilson’s disease, which were developed under your leadership. A moment ago, Polish recommendations were published under the auspices of the hepatology section of the Polish Gastroenterology Society. Why?” asks Jerzy Dziekoński; Reporter MP
“It should be noted that in the case of the Polish document, we are not dealing with guidelines, but with a position statement. The terms are important in this case. Guidelines are prepared according to certain rules. Those published this year under the banner of EASL, the European Association for the Study of The Liver, were prepared based on detailed rules governing the creation of guidelines. This is a much greater challenge than developing an expert position. It is precisely because of these principles that a team of external experts is appointed according to a specific key, who, through the Delphi panel, give their opinions at various stages of the development of the guidelines. These, in turn, are prepared according to the principles of asking clinical questions in the PICO system and in response to these clinical questions.
The PICO principles define the population, specify interventions, compare them, and determine their outcome. We therefore have a very precisely described method of preparing guidelines based on clinically important questions, for which we collect literature through a systematic review of the literature from specific databases. This literature is then analyzed appropriately, and finally, those publications are selected that serve to formulate recommendations as answers to the clinical questions posed. This is an extremely labor-intensive process. In Polish, we often use the term “guidelines” incorrectly – these are often documents that have not been prepared according to the aforementioned rules for preparing guidelines. And this is a key difference. There are many expert opinions, and they are also very important, but they often refer to local populations. Expert opinions are also prepared to address urgent problems, clarify doubts, etc. As in the case of the Polish expert opinion, the British opinion was published recently, and even earlier, in 2023, the American opinion. The Polish opinion is based on the EASL guidelines, is consistent with them, and presents diagnostic and therapeutic solutions in the context of the Polish population,” explains Prof. Piotr Socha.
Have the guidelines for the treatment of Wilson’s disease been developed for the first time? – Reporter MP
“No, our document is an update of the 2012 guidelines. At that time, the EASL guidelines I mentioned were not yet in force, so we reviewed all the literature on Wilson’s disease from scratch and reformulated the PICO questions.
Guidelines are usually updated based on clinical questions and a review of the literature from previous guidelines, supplemented with data from new publications. We did not have that luxury, because we had to prepare these reviews from scratch. That is why I believe that the document is particularly valuable, because it identifies the strength of scientific evidence and points to the need for further research in specific areas. In rare diseases, this is a particular challenge, because conducting high-quality randomized trials is extremely difficult. In common diseases, we have a relatively large number of such publications. This is partly due to the allocation of research funds by the pharmaceutical industry, which is interested in introducing new drugs for a large patient population. In rare diseases, the situation is different, and therefore there is much less high-quality research. We have demonstrated this clearly using the example of Wilson’s disease.
The Polish position is valuable in that, although it was guided by EASL guidelines, it took into account local limitations, such as access to diagnostic methods.” – Prof. Socha
What limitations are we talking about? – Reporter MP
“The main diagnostic limitation is the lack of access to the determination of a parameter that is increasingly being measured worldwide and which has found its place in the EASL guidelines. This is the so-called relative exchangeable copper (REC). This parameter was first introduced by the French and, as it has significant diagnostic value, has been used by them for over a decade. It is also being introduced into clinical practice by countries such as Spain and Denmark. We are trying to follow this trend and at the Children’s Health Center we also determine this parameter. I think that over time it will come into clinical use. In the Polish position, we only mentioned that this test could be included in the future, because it is not currently used.
There are various reasons for the Polish restrictions, but mainly it is because these parameters are so sophisticated that they are only determined by laboratories thanks to the efforts of doctors, often as part of research projects, scientific cooperation, or, as in the case of the Children’s Memorial Health Institute, an internal grant. Unfortunately, healthcare systems, not only in Poland, lack the diagnostic facilities created for the needs of a given disease. The system rarely keeps up with scientific guidelines, and although determining, for example, the copper content in the liver is nothing new, it is still not widely available in Poland.
Source of the quote and photo: mp.pl