The use of new means of communication today is an additional weapon very useful in the management of these pathologies
Taken alone, they affect few people but if you add up their impact, almost 2 million Italians suffer from rare diseases. The data emerges from the International Congress SSIEM 2022 (Society for the Study of Inborn Errors of Metabolism) held in Freiburg in Germany, where over 2,500 specialists spoke to talk about rare metabolic diseases, a heterogeneous group of pathologies involving the system of growth of the organism. it was also an opportunity to take stock of the objective difficulty of reaching certain diagnoses and collecting data.
Rare diseases are, according to the classification, 6 thousand or 7 thousand and affect less than one person in 2 thousand. In Italy there are about 2 million people affected by a rare disease according to the estimate of the Higher Institute of Health – informs Professor Maurizio Scarpa, Director of the Reference Center for Rare Diseases of the Integrated University Healthcare Company of Udine – however, this does not a certain fact for several reasons. In fact, many cases are not yet diagnosed and then there is no single system for classifying and entering cases in the regional registers. Italy is the country with the longest history on rare diseases and should have a better epidemiology than others, but it does not have reliable data. It is necessary to work in a collegial way to get to improve epidemiology – continues the expert – and it must be considered a real urgency.
This category includes lysosomal storage diseases, are inherited genetic diseases and are partial or total defects of lysosomal proteins resulting in impaired degradation and accumulation of material. The characteristic is that at onset the clinical signs are blurred and can direct the diagnosis towards more common pathologies and lead to a delay in diagnosis. They are characterized by a progressive course with severe disability involvement of different organs: lungs, kidneys, heart, musculoskeletal system which cause disability and loss of autonomy such as the
Fabry disease and alpha mannosidosis. In these cases, a multidisciplinary approach and the collaboration of the patient and the family are required, therapies are now available that can control the course of the disease and others are at an advanced stage of study.
During the “What matters most?” Symposium, promoted by Chiesi Global Rare Diseases, various studies were presented from which the key role of the patient to foster a personalized and multidisciplinary diagnostic, therapeutic and social approach in the treatment of lysosomal storage diseases. The specialists stressed the importance of patient centrality and listening, which are fundamental for choosing the most appropriate therapy according to the specific needs of the individual. An essential tool are patient reported outcomes (PROs) and experiences (PREs) and use of telemedicine (pc, app, telephone) crucial for the collection of information done directly by the patient. The multidisciplinary approach and doctor-patient dialogue play a crucial role in providing the most adequate and personalized therapeutic solutions – said Professor Maurizio Scarpa -. Patients with lysosomal storage diseases, albeit within the same diagnosis, are very heterogeneous and can live with completely different conditions from each other. For this reason, fostering constant communication between patient and doctor is one of the best ways to understand, for example, what are, for example, the impacting and compromising symptoms for patients or to support a more holistic approach that includes the management of associated conditions, such as well-being. psychological and impaired mobility. Only in this way – concludes the expert – will we be able to work with ever greater specificity in order to achieve ever more incisive results to improve the quality of life and well-being of people with lysosomal accumulation diseases.
September 4, 2022 (change September 4, 2022 | 08:22)
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