Naples. "Fabry disease is a genetic disorder considered rare, partly because patients are likely unrecognized, and it's X-linked, meaning males are affected, but at least 30-40% of women show significant symptoms. It's a disease for which, paradoxically, there are drugs that can cure or contain the disease very well, while finding patients is extremely difficult."
This is according to Lorenzo Chiariotti , 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 a research fellow.
"Fabry disease," he continues , "relates to a lysosomal accumulation of toxic substances in all tissues, particularly the kidney and heart. This means that the majority of patients end up in cardiology, nephrology, or other departments, but it's very difficult to recognize. Currently, doctors have few tools to recognize Fabry disease because it can be confused with so many other types of pathologies."
Ceinge , by signing an agreement with Takeda International , is "producing a screening program for all patients with cardiac or nephrological symptoms that might even remotely suggest, 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 appropriate therapy. We encourage the entire medical community," Chiariotti emphasizes , "to request these kits. These kits contain spots where they can place a few drops of the patient's blood and send them to us at Ceinge, where we will perform a free genetic, enzymatic, and storage test to determine whether or not the patient has Fabry disease."
