Naples. “Fabry disease is a genetic disease considered rare, also because patients are probably not recognized, and it is linked to X, so males are affected, but at least 30-40% of women express significant symptoms. It is a pathology for which, paradoxically, there are drugs that are able to cure or contain the disease very well, while it is extremely complicated to find patients”.
So to speak, Lorenzo Chiariotti, full professor of general pathology at the University of Naples Federico II and head of the epigenetics laboratory at Ceinge. Working with him on this research is Teodolinda Di Risi, head of the analytical phase for diagnostic investigations and research fellow.
“Fabry disease – continues – involves a lysosomal accumulation of toxic substances in all tissues, especially the kidney and heart. This means that the majority of patients go to cardiology, nephrology, or other offices, but it is very difficult to recognize: currently, the tools for doctors to recognize Fabry disease are few because it is confused with so many other types of pathologies”.
Il Ceinge, by signing an agreement with the Takeda International, is “producing a screening of all those patients who have cardiac or nephrological symptoms that even remotely could lead to suspect, among other things, this type of disease. We analyze them all to try to identify as many patients as possible to whom we can administer an adequate therapy. We push the entire medical community – Chiariotti remarks – to ask us for these kits in which there are spots, where you put a few drops of the patient's blood, and send them to us at Ceinge where, free of charge, we will do a genetic, enzymatic and accumulation test to establish whether or not the subject has Fabry disease”.
Article published on 16 September 2021 - 18:45
Video Chronicles
