Autoimmune liver disease is a health problem in which medicine is making significant progress.”
Autoimmune diseases of the liver represent a low prevalence of chronic diseases, and this necessitates a different attitude from the point of view of training and from the point of view of the association between general medicine and specialty medicine compared to those that are more prevalent.
These diseases are rapidly evolving in terms of scientific knowledge, patient management, and treatments, and also thanks to the growth of networks between specialists (including multidisciplinary specialists) and shared databases. Medicines for rare diseases have a relative spending ceiling and this cannot be an obstacle to the spread of new medicines. In all of this, patient associations are calling for a regional liver network to provide patients with the best course of diagnosis and treatment. The Sicilian grid can serve as a model from which other regions can draw inspiration.
The multi-regional webinar “The Road to Obstacles to Liver Disease. Focus on Liver Diseases in the Human Body” organized by Motore Sanità under the unconditional sponsorship of ALFASIGMA and INTERCEPT PHARMACEUTICALS assessed the situation by addressing different regional realities and highlighting the strengths and needs to ensure The best way to diagnose and treat the patient.
Adult autoimmune liver diseases are primary biliary cholangitis (PBC), autoimmune hepatitis (AIH), Primary sclerosing cholangitis (PSC) and IgG4-mediated liver disease. They are relatively rare diseases, with a prevalence in the European population of less than 1%, even if the available epidemiological data are certainly inaccurate.
All of these diseases, if undiagnosed and inadequately treated, progress in clinical severity up to the stages of decompensated cirrhosis, and characteristic of PSC, to cholangiocarcinoma.
The position point has already been clarified Pierluigi TonitoUdine, director of the ASUI Hepatology and Liver Transplant Unit, who added:
“Although there are laboratory and diagnostic tests that are very sensitive and specific for its diagnosis, autoimmune liver disease is certainly underdiagnosed only in cases, common only in AIH, of clinical symptoms such as acute hepatitis. This observation is justified by the fact that although we now have Effective therapies to treat all autoimmune liver diseases, except for PSC, the percentage of liver transplants performed for these diseases has not decreased in the last 10 years, reaching 10% in Europe.The involvement and awareness of the general practitioner for the early diagnosis of autoimmune liver disease is of importance extreme, because in most cases these diseases remain asymptomatic for a long time and can only be suspected on the basis of liver function tests. Any change in liver function tests must be carefully evaluated and in the process of differential diagnosis it is also necessary to take into account the presence of autoimmune liver disease.”
In Sicily, on the basis of experience and the success of the network created for HCV, a network was activated at the end of 2020, Sintesi PBC, the Sicilian Network for Treatment, Epidemiology and Screening in Liver Diseases.
submitted by Vincenza CalvarossoAssociate Professor, Department of Gastroenterology, University of Palermo.
The network is an essential tool for sharing strategies, for improving resources, for raising awareness of diseases, for obtaining epidemiological data and for allowing more equitable access to diagnosis/treatment. The main objectives of the network are: to obtain clearer epidemiological data, to identify response factors for first-line therapy, to evaluate the efficacy of second-line therapy, to identify new predictors of events, progress towards cirrhosis and decompensation, to assess comorbidities and vascular risk, to standardize symptom management. in these patients. The network includes all patients with chronic liver disease divided by etiology and the segment dedicated to PBC is a web platform that records all patients diagnosed at 13 centers in Sicily. 430 patients with baseline characteristics similar to the existing cohort were entered: 90% of the women, 55 years of median age of diagnosis, 31.8% did not respond to UDCA treatment. The probability of progression to cirrhosis ranges from 3% at 5 years, 11.7% at 10 years, and 27.2% at 15 years.”
according to Ignacio Gratagliano, President of SIMG Bari “We need an organized network of pathology. It is true that Sicily has started as a network that works in some ways, but it needs to be implemented and many general practitioners who are still far from the network must connect. It is a reality that needs to be regulated, because it is still currently based on voluntary mechanisms Otherwise, there is a risk of losing it over time. And then it can spread to other Italian regions, and transmit it on the basis of different facts.”
Other topics covered by Grattagliano: professional modernization and technological innovation. “It cannot be a broad scope: the family physician must be updated and receive information on disease progression. Being a low prevalence disease, the family physician, who is not an exhaustive expert, must be trained in the following individual cases, particularly by dividing those with pathologies Mild and more aggressive diseases or patients destined to, or who have had, a liver transplant.We can benefit greatly from technological innovation and hope that PNRR can incorporate digital innovation at scale.To operationalize a medicine initiative that uses telemedicine, trained personnel are needed to manage Patients through computer systems, not only medical staff but also medical staff, especially when regional functional associations and community homes are ready. Having a general practitioner trained in hepatology to support the early classification and diagnosis of patients would certainly be expected.”
according to Pietro Invernizzi, Director of ASST San Gerardo di Monza, Professor at the Department of Gastroenterology at the University of Bicocca in Milan General practitioners have the great task of screening and identifying unauthorized persons. “This is the main role that should be attributed to general practitioners – explained Invernizzi -. Regarding the diagnosis, when talking about primary cholangitis, there are not only anti-mitochondrial, but also other antibodies and there are various laboratory techniques to test them. The costs vary and the idea developed in Lombardy to be published is to imagine a PBC Reflex, where the average cost will be determined for each request made for a PBC diagnosis. For general practitioners, it is inconceivable that they know the details of all the antibodies, but if they suspect PBC, they can order anti-PBC antibodies, the cost of which will be lower in the case of a negative result and higher if they need more information.”
Patients were represented by EpaC and AMAF Onlus. Marco BartoliThe director of new drug access at EpaC explained that patients and caregivers are very knowledgeable and interested in enriching their knowledge “For this reason, Epac has implemented a whole series of activities to make it increasingly participatory and informed. Patients ask questions about pathology, complications, symptom management, and above all, They are constantly seeking the opportunity to participate in trials, to obtain information about trial pathways for new drugs or therapeutic options, and for this reason it would be conceivable to create a tool that would facilitate the recruitment or at least further highlight these trials.”
Another topic: the need to establish a regional liver network and provide more information: “Often, he added Marco Bartoli – It is limited to very small areas and fragments the world of the liver, for this reason it will be necessary to establish a regional hepatobiliary network in which patient steps and reference centers will be determined.
Finally, we can create the most beautiful paths but communication is of the essence: it is hard to find information and try to make it available to patients and centers of excellence.”
David Salvioni, President of AMAF ONLUS, Autoimmune Liver Disease Society, focused on early diagnosis and the association’s activities. “In cases where indicators of liver function are incorrect, offering antibody assessment may be an option that I would not rule out, as this is part of a network concept between specialists and general practitioners where the latter has an important role in identifying warning signs of disease.
Amaf has trained two expert patients to be able to speak at discussion tables, we have a how-to guide to be able to suggest the best treatment centers nationwide to our colleagues, we provide moral support and soon we will open a window dedicated to patients. rights. Finally, since our birth, we have been struggling to identify rare diseases of two diseases, primary cholangitis and autoimmune hepatitis, which although considered rare at the European level are not at the national level and with Uniamo we are collaborating to try to gain recognition.”
Close the workbench Franco Ripa, Head of Health and Social Health Planning. Deputy for the Directorate of Health and Welfare in the Piedmont Region who explained: “Autoimmune liver disease is a health problem in which medicine is making significant progress. To date, prevention measures are mainly of general and behavioral type. Thus, in this context, early diagnosis and development of appropriate management is fundamental to guiding patients toward organizational settings and treatments. The most convenient, according to an integrated model between the hospital and the territory.”