Fabry disease, a rare multisystem, multiorgan, progressive, hereditary lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular and cerebrovascular signs, has a strong impact on the quality of life of patients and caregivers for a very long time. “However, the availability of enzyme replacement treatments, home therapies, and the possibility of novel self-administration have changed the treatment history and life expectancy of patients.” This is how Antonio Pisani, professor of Nephrology at the Federico II University of Naples, takes stock for Adnkronos Salute on the pathology and the advantages of the new self-administration with respect to the needs of patients.
“It is a chronic disease, due to the lack of an enzyme, which involves the functions of various organs with all the consequences it entails – explains Pisani – and which requires treatments for very long periods. For these reasons, the possibility is to arrive to treatment in a facilitated way is certainly an advantage. The availability of self-administration for the alpha formulation is recent, which is added to the possibility of home administration, through a provider. Both options, although self-administration has limitations because it is indicated only for specific patients, confirm the tolerability of these treatments. Furthermore, they can be performed far from hospitals and this allows the patient to feel freer from the burden of a treatment that remains in any case for a long time”.
For the neurologist, “home therapy and the possibility of self-administration, as well as changing the history of long-term treatment of these patients, and ‘weighing’ less on those who assist them, represent an advantage for the National Health Service. It should be remembered that people with Fabry disease in the past had to go to the hospital every 2 weeks to receive treatment.”
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