Lysosomal storage diseases: ‘neonatal screening and life-saving early diagnosis’

An early diagnosis can change the therapeutic approach and the patient’s life: this is especially true for lysosomal storage diseases, such as Gaucher disease, Fabry disease and Hunter syndrome, or Mucopolysaccharidosis type II, chronic diseases of genetic origin that they occur in the very first years of life, caused by a defect or absence of one of the enzymes contained in the lysosomes. The possibility of starting therapy promptly allows to considerably reduce, and in some cases eliminate, the effects of these pathologies, which in their development determine permanent and irreversible damage to the nervous system, intellectual, physical and developmental disabilities, leading to an important reduced life expectancy or death. The numbers speak of a new case in 7,700 births every year, but there is a large overwhelmed due to severe diagnostic delays, which can reach up to 10-14 years and lead to serious consequences. Newborn screening is an effective and reliable clinical tool, which has been implemented for many years for various rare and metabolic diseases. “It is one of the achievements of modern medicine, because from a practical point of view it is an act of mass analysis for pathologies that, if recognized in time, can in some cases be cured or treated effectively, avoiding long-term consequences”, says Maurizio. Scarpa, director of the Coordination Center for Rare Diseases, Friuli Centrale Healthcare Company. “In Italy – he continues – there has always been great attention to neonatal screening, since the 1960s with the introduction of that for phenylketonuria: yes can say that our country, together with England, was the cradle of the study of metabolic diseases, the foundations of which were laid thanks to important schools such as Rome, Genoa, Florence, Cagliari, Padua. It is essential – he reiterates – that newborn screening is not considered ‘only’ a test but that it is included within a system that must serve to improve the natural history of the disease: it must be a medical procedure that starts from the pregnancy, explaining to the couple what it is, what are the diseases that can be identified, what can be done, what is expected in case of positivity, the possible taking charge by a specialist center that will follow the child and his parents. If it is done in a hasty and unstructured way, for example consent is taken close to childbirth, then the effectiveness of this system is less “, he warns. Neonatal screening for lysosomal storage diseases is available and has already been applied. , with relevant results for some of these pathologies in pilot programs in Veneto, Tuscany and Umbria, but not yet on a large scale. “The differences between Gaucher diseases, Fabry and Hunter syndrome mean that there are approaches to diagnosis and screening different: for Gaucher and Fabry pilot neonatal screening projects are already active in two Italian regions while for the Hunter Syndrome, at the moment, there are no experiences of this kind “, explains Carlo Dionisi Vici, head of the Metabolic Diseases Operating Unit, pediatric hospital Bambino Gesù Irccs Roma and member of the technical committee of the Italian Society of Pediatrics (Sip). “It is important that there is greater knowledge of these diseases tr to the doctors themselves (pediatricians, internists, general practitioners) – warns Dionisi Vici – because, outside of newborn screening, there is ‘oriented’ screening which is carried out in the presence of ‘alarm’ symptoms characteristic of each of the three lysosomal storage pathologies “. To these pathologies the campaign ‘Raro chi Trova – Together on the trail of Fabry, Gaucher and Hunter syndrome’ (www.rarochitrova.it) is dedicated, with the aim of raising awareness and informing and igniting the spotlight on the importance of newborn screening and early diagnosis, which can change the natural history of disease and improve the quality and life expectancy of patients. The campaign is promoted by Takeda Italia with the patronage of: Sip, Aiaf (Italian association Anderson Fabry onlus, Aig (Italian association Gaucher onlus) and Aimps (Italian association Mucopolysaccharidosis and related diseases onlus).