For the Niemann Pick disease, also called acid sphingomyelinase deficiency (Asmd), “today there are diagnostic and therapeutic possibilities. However, it is necessary to draw the attention of the medical profession to this ultra-rare pathology, because not knowing ASMD means arriving later at the diagnosis, not treating the patient early and making him run a risk of increased morbidity and mortality. This is why the Italian Society for the Study of Hereditary Metabolic Diseases and Neonatal Screening “, Simmesn,” is in charge of lighting a beacon, creating attention on this ultra-rare disease, as on others ” . Like this Andrea Pession, Uo Pediatrics Irccs Aou of Bologna and president Simmesn, on the sidelines of the information meeting ‘Asmd: state of the art and news of an ultra rare disease’, promoted today in Rome by the Italian Niemann Pick Onlus Association, in partnership with Sanofi and with the collaboration of Omar – Observatory for rare diseases. Objective: to sensitize institutions on the current needs of Asmd patients and their caregivers.
“It is necessary to sensitize various specialists, from the pediatrician to the internist, but also the orthopedist, the hepatologist and the gastroenterologist – underlines Pession – about Niemann Pick’s disease. Today we have enzyme replacement therapy. By replacing, through periodic infusions of the sphingomyelinase enzyme that is lacking in these patients, we are able to restore balance. And the fact that these patients can be treated helps to draw the attention of doctors and health professionals to the need to pay attention to ultra-rare diseases such as ASMD, which will become rare and who knows that in the future they will not prove more frequent than that. what we think “.
Amsd is one “of the 1,625 diseases that we physicians who are experts in metabolic diseases deal with – continues the expert – Patients have extremely variable clinical pictures and doctors find it difficult to recognize it. There are various techniques to arrive at the diagnosis. , can be diagnosed in subjects at risk: the child with enlarged liver and spleen, which has an altered lipid profile (dyslipidemia) and perhaps has a history of pulmonary involvement. In the presence of these signs, a diagnosis of Amsd must be suspected and follow the patient carefully “.
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