Rare diseases of gastroenterological or hepatological interest represent a substantial “slice” in the wider field of rare diseases. There are different forms but with one element in common: a strong and disabling impact on the quality of life of patients. A few days before the World Day dedicated all over the world to rare diseases, SIGE takes stock of these pathologies.
A disease is defined as rare when it affects less than one in 2000 people in the European population. Unfortunately, the list of rare diseases is very long and, as a result, there are a great many people affected overall. In fact, it is estimated that around 36 million people in Europe are affected by a rare disease. “Rare diseases of gastroenterological or hepatological interest represent a challenge for patients, doctors and researchers – explains Antonio Benedetti, president of SIGE -. Many of these conditions, such as autoimmune liver diseases or rare intestinal motility disorders, cause chronic symptoms of complex management, are difficult to diagnose or have an onset in childhood. The first step in helping rare disease patients is to raise global awareness of these diseases. In this perspective, the week dedicated to rare diseases is a fundamental event. In fact, it represents the first effort to create networks that allow not only to support patients and their families but also to foster medical expertise and collaboration for basic and clinical research. Scientific societies such as SIGE have the fundamental task of encouraging and supporting the creation of these networks, through intermediation between patients, associations, doctors and researchers and support for global awareness campaigns.
Rare diseases in the gastroenterological field: esophageal achalasia, eosinophilic esophagitis and eosinophilic gastroenteritis are the most frequently diagnosed diseases. Esophageal achalasia, a pathology of the esophagus characterized by the absence of relaxation of the esophageal sphincter and the absence of physiological peristalsis, has an incidence of 1 in 100 thousand inhabitants each year, with a higher prevalence among the elderly and with minimal differences between men and women. Those suffering from achalasia face a high risk, five times higher than the average, of getting cancer of the esophagus.
The international scientific community is focusing particular attention on eosinophilic esophagitis. The incidence data set in a range that oscillates between 1 and 20 patients per 100 thousand inhabitants every year, with a predilection towards the male sex and the young age, place it among the “evolving” and worryingly increasing pathologies. A lower incidence, however, with less than 1 case per 100 thousand inhabitants, is recorded for eosinophilic gastroenteritis, which can affect any tract from the stomach to the colon.
In general, rare diseases of this type have symptoms similar to their onset. Both eosinophilic esophagitis and esophageal achalasia are characterized by symptoms such as dysphagia (difficulty in passing food into the esophagus), occasional regurgitation or burning episodes; signals that can be mistaken for gastroesophageal reflux disease and which can, therefore, delay the diagnostic process of a rare disease.
“The role of the gastroenterologist is central in the management of rare diseases – says Nicola De Bortoli, Associate Professor of Gastroenterology at the University of Pisa and Member of the SIGE Scientific Committee -. In the event that a specialist is found to operate in a center where all the tools necessary to diagnose a rare disease are not available, it is important not to interrupt the diagnostic process, but to refer to the centers where this method is performed regularly. and above all where there is a high level of expertise. In this regard – explains Professor De Bortoli – the role played by the Scientific Societies such as SIGE is central which, as leader of the gastroenterological scientific societies, has drawn up and disseminated diagnostic and therapeutic guidelines to help operators present throughout the national territory. . Furthermore, SIGE has among its members among the Board of Directors and Scientific Committee most of the most active and competent researchers currently present on the national scene ”.
At the international level, research does not stop. Despite the overall expenditure for orphan drugs included in the AIFA list in 2019 is just 1.6 billion euros, the therapeutic opportunities for rare patients are becoming more and more concrete with numerous experimental trials already started with biological drugs and monoclonal antibodies. The good news is that, according to the AIFA Horizon Scanning, another 17 orphan drugs will arrive within the year with potentially relevant results.
Rare diseases in the hepatological field. The figure of the gastroenterologist also plays a fundamental role in the diagnosis and clinical management of rare liver diseases. “Much broader and more complex – explains Vincenzo Cardinale, Associate Professor of Gastroenterology at the University of Rome La Sapienza and recent SIGE-UEG rising star – is the spectrum of rare liver diseases: from autoimmune liver diseases to genetic cholestasis, from biliary malformations to the polycystic liver, to arrive at rare liver tumors. Rare liver diseases have a frequent onset in childhood with a very strong impact on the quality of life and a chronic and disabling trend. All this is offset by the difficulty of having a diagnosis in a short time, the absence of curative therapies, the scarcity of structured care pathways. Rare liver diseases require not only diagnosis, but also prevention, rehabilitation and psycho-socio-economic support ”. The European network “ERN RARE LIVER” intends to respond to these needs, which sees Italy among the founders, created with the aim of facing the medical and social challenge of managing rare diseases.