In the prestigious Sonia Factory, the recipes of Rare Book – A guide to feeding patients with Fabry Diseasecome to life. Sonia Peronacidigital entrepreneur, cook, TV presenter and writer, started cooking assisted by Prof. Giuseppe Limongelli, Director of the Rare Diseases Coordination Center of the Campania Region, Francesca Dongiglio, Nutritionist at the same center as the professor, and Stefania Tobaldini, President of the Association Italian Anderson-Fabry (AIAF APS), and, between a marinade and an emulsion, led her audience on a journey to discover how nutrition can be an ally for the management of rare diseases.
Rare Book he is the protagonist of the larger project Fabry’s Kitchen brought to the attention of the institutions in February, promoted by the Rare Disease Center of the Campania Region in collaboration with the Italian Anderson-Fabry Association (AIAF APS) and its Scientific Committee together with clinical experts in pathology and nutrition and nutrition and was created with the non-conditioning contribution of Chiesi Global Rare Diseases. The first tool that provides specific dietary indications for problems related to Fabry Disease, it aims to be a guide to specific nutritional education for people with this disease with the aim of helping them to know the characteristics of foods and prepare tasty dishes to share even in the pleasure of conviviality.
“Simplicity helps you cook with more desire,” says Sonia Please tell us. “When you receive the diagnosis of an illness and the doctor’s suggestion to avoid foods, you can become discouraged and no longer experience cooking as a passion and a pleasure to be shared. I am passionate about cooking and convinced that the well-being of the intestine contributes to the happiness of the body and mind. And why can’t this also apply to those living with a rare disease?”. Said and done in show cooking Sonia and her guests tried their hand at preparing quinoa with swordfish carpaccio, cherry tomatoes and rocket (Video of the show cooking).
Fabry disease is a rare genetic pathology (its prevalence does not exceed 1 case in 2000 people) which, due to the deficiency of a protein responsible for the breakdown function of a particular category of fats within cells, can damage cells of the body and lead to complications involving different organs. For this reason, Fabry Disease is defined as multisystemic, affecting the heart, kidneys, intestines, nervous system, ears and eyes. In its most serious form, complications can include renal failure, cardiomyopathy and heart failure, cerebral ischemic attacks and other neurological disorders, as well as gastrointestinal disorders which can manifest themselves from childhood.
“Rare Book has the main objective of talking about people with rare diseases” states Prof. Giuseppe Limongelli. “In particular, Anderson Fabry disease is still underdiagnosed today or with diagnostic delays even beyond 10 years. Its symptoms are often non-specific, leading the doctor to first investigate more common pathologies, such as urinary tract infections or arterial hypertension, or are sometimes misinterpreted. For example, the gastrointestinal symptoms of Fabry disease can be mistakenly traced to ‘functional disorders”.
Dietary therapy proves to be a fundamental support in the treatment of patients with Fabry Disease, especially with regards to gastrointestinal disorders. The doctor Francesca Dongiglio explains “Some short-chain carbohydrates cause worsening of the severity of gastrointestinal symptoms. This is due to fermentation processes by intestinal microorganisms, which could lead to excessive production of gas and other metabolites, contributing to flatulence, bloating, abdominal pain, increased secretion of liquids and an increase or reduction in intestinal transit. These carbohydrates are present mainly in milk and dairy products, in some cereals and in some types of vegetables and fruit. This suggests the use of a dietary protocol with a reduced content of Fermentables, Oligosaccharides, Disaccharides, Monosaccharides and (And) Polyols (FODMAP)”.
The foods that can be found in the normal diet rich in the main FODMAPs are: fruit, honey, fructose syrups (containing fructose); milk and dairy products (with lactose); wheat, onion, garlic (rich in fructans); beans, lentils, legumes such as soy (with galactans); stone fruits such as apricots, cherries, peaches, plums and sweeteners containing sorbitol, mannitol, xylitol, maltitol (containing polyols).
“Gastrointestinal symptoms linked to Anderson-Fabry disease” specific Stefania Tobaldini “they significantly affect the daily life and sociality of people who live with this pathology. This is a topic on which AIAF has been paying a lot of attention for some time, so much so that it was placed at the center of last year’s National Meeting. The recipe book it is an educational tool which, starting from the ABC of nutrition, aims to help patients learn about the characteristics of foods and give ideas for preparing dishes that can specifically alleviate gastrointestinal symptoms and help them rediscover the pleasure of conviviality and we are very happy to have contributed to its realization. The dissemination of this recipe book also represents a precious opportunity for AIAF to underline the importance of a nutritional assessment of patients”.
The figure of the nutritionist has begun to take on an important role in the multidisciplinary care of these patients. Despite this, experiences in this sense, at a national level, are still limited.
“There are almost 10,000 Rare Diseases and for the vast majority there is no treatment available. At Chiesi Global Rare Diseases we feel called not only to offer innovative therapies and solutions through research and development programs for those communities where few or no therapeutic alternatives exist, but also to consider all the daily needs of patients and their families” , he claims Alessandra Vignoli, Head of Mediterranean Cluster, Chiesi Global Rare Diseases. “We are thrilled to support initiatives such as Fabry’s Kitchen, a project that fully reflects our commitment to taking care of the patient in every moment of their daily life in line with our approach of creating shared value, and we offer ourselves as an active partner of the Health System to build together a more holistic approach to support the rare disease community.”