A rare disease, which is estimated to have a prevalence of between 0.4 and 6 cases per million inhabitants, which in Europe is included among the diseases that need special attention precisely because it affects very few people, but which is not recognized as such by health care. Italian, thus preventing the creation of a uniform assistance network throughout the territory. To date, it is estimated that in Italy there are about 800 patients suffering from short bowel syndrome, of which 150 children, who cannot count on a dedicated diagnostic therapeutic assistance (PDTA) path and, depending on the region in which they live, can access some services and services and not others. “Only in Piedmont this condition is classified as rare and therefore patients can avail themselves of the rights and protections they need”, explained Sergio Felicioni, president of the patient association “A thread for life”, during the Virtual Media Academy ” Short bowel syndrome (SBS) is a rare disease: let’s get to know it to make it known ”organized by Takeda.
Patients suffering from short bowel syndrome literally live on a thread, the one thanks to which they feed because the small intestinal portion does not allow patients to absorb nutrients adequately. Parenteral nutrition, which takes place via the venous route, is indeed essential for the survival of these patients, but the dependence on it has a very significant impact on their quality of life: it is usually administered at night, even every night, and has a duration that varies between 10 and 18 hours. Children in parenteral nutrition have a reduced quality of life, relationship and emotional difficulties: they tend to have fewer friends than the average and to participate less in school and leisure activities. “Not infrequently one of the parents has to give up work and, in many cases, the family has to bear the costs of the care. This is why it is essential for patients that it is recognized as rare so that patients can have access to the network of services that Italian healthcare reserves for rare patients “added Felicioni.
The lack of knowledge of short bowel syndrome also affects the medical profession and this often leads to a delay in diagnosis. “If SBS with intestinal insufficiency is not recognized promptly and treated in the best possible way, the patient can develop severe malnutrition and dehydration with renal distress, thus risking having two organ failure, intestinal and renal”, explained Loris Pironi, Director of the Regional Center for Chronic Intestinal Insufficiency, IRCCS Policlinico di S. Orsola, University of Bologna. “Parenteral nutrition – then – must be carefully managed because, despite being the life-saving therapy, it can expose the patient to complications such as severe catheter infections and chronic developmental liver disease, when not delivered accurately”.
The children
In the case of children, the cause of the short intestine is in the vast majority of cases congenital and the children must be immediately directed to surgery. From there begins a long path that passes through the need for parenteral nutrition, a condition that in 25-40% of cases also lasts into adulthood. In the case of pediatric patients, parenteral nutrition is particularly delicate. “Unlike the adult patient, in fact, in the child artificial nutrition must be constantly remodeled so as to ensure optimal growth, which represents the most effective marker of adequacy of the nutritional program set”, explained Antonella Diamanti, Head of Nutritional Rehabilitation at the Bambino Gesù Hospital. , Rome. The goal for young patients is partial if not total weaning, i.e. the achievement of nutritional autonomy. A goal that can now also be achieved thanks to a new tool: teduglutide, a drug already indicated in the treatment of adults with this syndrome which has been shown to increase the absorption capacity of the epithelial cells of the intestine. Teduglutide mimics the action of the physiologically produced glucagon-like peptide 2 (GLP-2) by stimulating adaptation and increasing the absorption capacity of the intestine9. “In patients in whom the dependence on parenteral nutrition in terms of volume or calories is limited, the use of the drug has been shown to lead patients to intestinal autonomy during the first six months of therapy”, concluded Diamanti.
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