There are 250 thousand Italians with a diagnosis of celiac disease. And it is estimated that at least another 350 thousand people suffer from it without ever having received a diagnosis. For this reason it is important to talk about this disorder, which can have serious consequences on health and for which there is no therapy: the only solution is to avoid taking gluten.
The disease and the risk of tumors
Celiac disease is an autoimmune disease, caused by a malfunction of the immune system which pushes it to attack the intestinal villi, causing their atrophy. The cause is to be found between environmental and genetic factors: to suffer from it you need to have a genetic predisposition, but it is triggered by gluten, whose presence in the body activates the immune system and causes chronic inflammation of the intestine which damages the intestinal villi . The symptoms of the disorder are heterogeneous, and range from nutritional deficit caused by malabsorption of food in the intestine, to even serious gastrointestinal symptoms, such as diarrhea and cramps, anemia and growth retardation for pediatric patients, apathy, weakness, osteoporosis and other manifestations of vitamin D and calcium deficiency, neurological symptoms.
The variety of clinical manifestations obviously complicates the diagnosis, which is however essential because if it is not managed, over time celiac disease can lead to very serious complications, such as lymphomas and intestinal carcinoma. In terms of therapies, however, for now there are no pharmacological treatments, but the complete elimination of gluten from the diet guarantees the majority of patients to return to perfect health. Not a simple path, but certainly effective. Which obviously begins with a diagnosis.
How is celiac disease diagnosed?
The issue of early diagnosis is particularly important for children, in whom celiac disease can compromise the correct development of the organism. In the past, the diagnosis required a duodenal biopsy to be confirmed, but the most recent guidelines have streamlined the procedure for pediatric patients, which in case of clinical suspicion can only be carried out by searching for specific antibodies in the blood. This has significantly reduced waiting times and increased diagnoses (continuously growing in our country, reaching over 10,000 in 2022 alone). This is demonstrated by a study that analyzed over 3 thousand pediatric patients followed by 13 reference centers across the peninsula to establish what the average waiting times are for a diagnosis. According to the results, on average it takes five months from the onset of symptoms to reach a diagnosis and therefore start the gluten-free diet, a timescale considered satisfactory by the authors of the research. Patients diagnosed before the age of three would also tend to have shorter diagnosis times, while symptoms such as neurological disorders, gastroesophageal reflux and growth problems appear associated with a greater risk of extreme diagnostic delay.
The screening
Despite the good results in terms of speed of diagnosis, we can do better. The complexity of the clinical manifestations of this pathology (which in some cases can even be asymptomatic) means that there are still too many patients, including pediatric ones, who never reach a diagnosis, or arrive there extremely late. An important innovation in this sense, however, is the national screening program announced in March by the Ministry of Health: a pilot project that will evaluate the costs and effectiveness of a screening carried out by measuring auto-antibodies and testing the presence of gene variants associated with the pathology. At this stage, the program is active in four regions (Lombardy, Marche, Campania and Sardinia), and will enroll children aged 2, 6 and 10 on a voluntary basis. If the results are positive, and the coverage to finance it is found, pediatric screening on a national basis should become operational in the next few years.
Gluten-free diet
As we were saying, the only effective therapy for a celiac is the complete elimination of gluten from the diet. A path that is not easy, obviously, and relatively expensive given that it requires the purchase of special foods. To support patients and their families, a parliamentary intergroup dedicated to celiac disease was created, which – as Senator Elena Maurelli, promoter of the initiative, recalled in recent days – led to the drafting of a bill for the “Protection of subjects suffering from celiac disease and provisions for prevention and information regarding the disease”.
“As regards the bill of which I am the first signatory – explained the senator – the circularity throughout the entire national territory of the vouchers used monthly by celiacs to buy gluten-free products is envisaged, which now have regional value. Furthermore, the dematerialisation of vouchers is planned in the four regions that still use them on paper. We then consider information to be fundamental, not only in schools, but above all training, primarily that of HO.RE.CA operators (staff working in hospitality and catering, Ed.). It is also planned to include a specific module for celiac disease in the HACCP certification, so that everyone is informed about the danger of contamination in the food preparation and administration process to guarantee a gluten-free meal for everyone”.
Therapies
Currently, therefore, we are working to make access to gluten-free foods easier. For the future, however, research aims to find a therapy that allows these patients' immune systems to be kept at bay, and therefore to return to consuming gluten without dangers to health. The idea is to develop therapeutic or immunotherapy vaccines that allow the development of tolerance to gluten, as happens in the case of other forms of allergy. In this case, however, the objective is not easy to achieve, and as a review published in February in a journal of the Nature group reminds us, there are currently five drugs in the clinical trial phase (or rather four, because one – the Nexvax2 vaccine – proved ineffective and its development was recently abandoned by the manufacturing company), and another 10 in pre-clinical development.
Developing an immunotherapy against celiac disease – write the authors of the review – has proven complex for various reasons. Last but not least, it is difficult to evaluate the real effectiveness of these therapies given that celiac disease does not always produce evident symptoms when gluten is consumed, and at the same time, the absence of symptoms in the short term does not guarantee that these can recur long-term with chronic exposure. Several drugs, however, are expected to reach the advanced stages of clinical trials (the so-called phase 3) in the coming years. And therefore some good news, in this sense, could now be upon us.