Milan, 12 March (beraking latest news Salute) – New drugs and new methods are being studied to accelerate the diagnosis of rare diseases of gastroenterological or hepatological interest, which represent a substantial share in the wider panorama of orphan diseases. To take stock is Sige, the Italian Society of Gastroenterology and Digestive Endoscopy.
“Rare diseases of gastroenterological or hepatological interest represent a challenge for patients, doctors and researchers – explains Antonio Benedetti, president of SIGE – Many of these pathologies, such as autoimmune hepatic diseases or rare intestinal motility disorders, cause symptoms chronic diseases of complex management, are difficult to diagnose or have an onset in childhood. The first step to help patients is to raise global awareness of these diseases. In this perspective, the week dedicated to rare diseases is a fundamental event. 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 task it is essential to encourage and support the creation of these networks, through intermediation between patients, associations and medics us and researchers and support for global awareness campaigns “.
At the international level, research on rare diseases does not stop, Sige notes. Despite the total expenditure for orphan drugs included in the Aifa (Italian Medicines Agency) list in 2019 is just 1.6 billion euros, the therapeutic opportunities for rare patients are becoming increasingly concrete with numerous experimental trials already started with biological drugs and monoclonal antibodies. The good news is that, according to Horizon Scanning Aifa, another 17 orphan drugs will arrive within the year with potentially relevant results.
The most frequently diagnosed rare diseases in the gastroenterological field are esophageal achalasia, eosinophilic esophagitis and eosinophilic gastroenteritis, Sige lists.
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, 5 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 diseases in evolution and worrying increase. A lower incidence, however, with less than one 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 – underlines 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 working in a center where they are not all the tools necessary to diagnose a rare disease are 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. the central role played by scientific societies such as Sige 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. board and scientific committee most of the most active and most active researchers c Competitors currently present on the national scene “.
The figure of the gastroenterologist, continues Sige, also plays a fundamental role in the diagnosis and clinical management of rare liver diseases. They represent “a much broader and more complex spectrum”, explains Vincenzo Cardinale, associate professor of Gastroenterology at the University of Rome La Sapienza and recent Sige-Ueg (United European Gastroenterology) rising star: “From autoimmune liver diseases to genetic cholestasis, from malformations to the polycystic liver, to get to 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 counterbalanced 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 – highlights Sige – born in order to face the medical and social challenge of managing rare diseases.