Celiac disease: how will neonatal screening be like for all children, the genetic test that discovers intolerance

Forty years ago it was considered one rare diseasethe diagnosis they came with the dropper and it was also believed that it was possible to develop the celiac disease Only by children.

* In celiac disease the immune system alerts towards gluten, a protein present in many cereals including wheat, and through
The white blood cells attacks the mucous membrane of the small intestine, causing constant and not controlled inflammation that leads to a flattening of intestinal villi, where nutrients are absorbed.

For those who were celiac to find the gluten -free foods It meant committing a lot and often the products had a taste that is not exactly « delicious ».

Hidden cases

Today celiac disease is finally recognized as a pathology far from rare, given that it is estimated at least 600 thousand Italiansabout 1-1.5 percent of the population; Following a gluten -free diet is simple, the path to get to the diagnosis is clear.

Yet there is still a lot to do and the Italian Celiac Association (AIC) still speaks of a « iceberg » of celiac disease, because there are just over 265 thousand Italians who have received the diagnosis e Therefore, about 400 thousand people are still missing potentially affected by the problem that are not aware of it. A problem of no small importance because the Gluten -free diet It is not a fashion or a diet to lose weight, as many still believe, but The only possible therapy to prevent celiacs from developing one or more complications of the disease, frominfertility to osteoporosis.

More widespread than what we know?

For this reason, the law 130/2023, which established a program of Snational creating for celiac disease and type 1 diabetes in childhoodit is considered a fundamental conquest and is awaited for the approval of the definitive method with which it will take place on a national scale, which will emerge within a few months of the State-Regions Conference. For now the data of the pilot project have been released and the surprises have not been lacking: celiac disease it could still be more widespread of what is supposed today? The doubt is judged by the preliminary data of the pediatric screening pilot project, of which the first results on over 4 are known thousand children aged 2 to 10 in Lombardy, Sardinia, Marche and Campania: 2.9% of children were positive for the test which indicates the risk of developing celiac disease, therefore much more than 1-1.5% expected based on estimates.

As it specifies Marco Silanodirector of the Department of Cardiovascular Diseases, Endocrine-Metabolic and aging of the Higher Institute of Health and Coordinator of the Scientific Board of the Italian Celiac Association: « Attention, this is not the diagnosis of celiac disease, because on small positives to the test it must be confirmed by a blood sample in a reference center for the pathology and possibly, in cases where it is appropriate, with a subsequent one, with a subsequent one intestinal biopsy».

The pilot project

«The pilot project, called D1ce Screen – clarifies Silano -, is the preparatory phase to put into practice the provisions of the Law 103/2023, the first and unique in the world to predict one screening To identify the cases of celiac disease and type 1 diabetes early in an entire nation: this phase serves to identify the protocol To be proposed to regions and autonomous provinces to achieve screening everywhere and now the enrollment of over 5 thousand children of 2, 6 and 10 years has ended. The aim of today has not been verified the prevalence of celiac disease, but understanding the feasibility and economic and logistical sustainability of the program, identify the best age to be tested, probe how much the proposal is accepted by the parents « .

How the test takes place

«The test, which consists in taking a minimal amount of blood from the capillaries of a finger by stinging it with a hand and is therefore very unhappy, has been offered in easy access to families such as the pediatric clinics of free choice; The test was proposed to the parents and the decision to submit or not the children was on a voluntary basis, but we observed that there is an excellent propensity to consent to the withdrawal « . On a drop of blood, the self-antibodies for type 1 diabetes and the two genetic variants DQ2 and DQ8 are sought, which are necessary but not sufficient to develop celiac disease: you cannot get sick in the absence of these two variants, but if there are it is not said that there is the disease or that it is developed in the future, because it is estimated that it only happens to about 3% of those who are predisposed (which is predisposed ( They underline the experts in the guidelines of the screening program, must not eliminate or reduce gluten because in the presence of genetic susceptibility The risk of getting sick does not change by changing the diet). Specific antibodies for celiac disease are also measured on positive samples to the genetic test, which are still examining at the autoimmunity laboratory of the San Raffaele hospital in Milan; In case of any further positivity, however, the confirmation of the diagnosis on a real withdrawal is needed.

The symptoms

Knowing that you are at risk thanks to screening, however, is already a precious information because, as Silano points out, « in the case of type 1 diabetescan identify children at risk by avoiding that the disease manifests itself with an acute event and potentially lethal like ketoacidosis (An imbalance of blood sugar due to the absence of insulin, the hormone necessary for the metabolism of glucose, editor’s note), in the case of celiac disease it can allow early diagnosis by avoiding complications ».

Those who know they have the genetic predisposition to celiac disease but do not yet have antibodies for example can be more attentive to the appearance of any symptoms or, as an adult, to provide antibodies checks to intercept it in the event that it does not give symptoms: if in fact children the signs are often the most classic ones, i.e. weight loss due to malabsorption connected to gluten intolerance, diarrhea or vomiting, lack of appetiteas adults may be missing or being difficult to bring back to celiac disease such as anemia, osteoporosis, irregular menstrual cycles or the difficulty in having a child, anomalies of the enamel, nails or hair.

Because, contrary to what was believed in the past, you can get sick at all ages, even from the elderly; If it is suspected of being celiac, it is necessary to undergo blood analyzes to identify the typical self-anti-anti-anti of the disease, i.e. the anti-endomisio and anti-transglutaminase anti-endomisio antibodies, and then confirm the diagnosis with an intestinal biopsy, because in the celiacs the intestinal villi are dishes and there are signs of intense inflammation.

The prospects and the diet

If you start the process for diagnosis, however, Gluten should not be removed from diet Because, as Silano observes: «The tests must be performed when it is following a diet that contains it, otherwise the results are false because the disease indicators fall within the norm. In fact, the only possible therapy is precisely the total and permanent exclusion of gluten from nutrition; Studies are being conducted to find an alternative cure and the most beaten roads are the inhibitors of transglutaminase 2 (A protein involved in the development of celiac disease and in the mechanisms that lead to intestinal damage, editor’s note) and compounds that allow a sort of pre-digestion of gluten before it arrives in the intestine. However, you cannot expect concrete results and applications in the short or medium term « , concludes the expert.