2024-04-08 11:07:44
This rare disease, which affects several organs and can lead to serious complications, has new treatment options.
A disease is classified as rare when it affects less than 5 people out of every 10,000 inhabitants. These are very complex pathologies, most of them chronic and degenerative, that take a long time to diagnose (an average of 4 years), that present many difficulties in accessing treatment (or it does not exist at all) and that, therefore, impact on the quality of life of patients and their families.
This is the case of Fabry disease, which is classified within the so-called lysosomal diseases. “It is a genetic disease secondary to the deficiency of an enzyme (alpha-galactosidase) that, under normal conditions, is responsible for breaking down a type of lipid called globotriaosylceramide inside cells. Since this substance cannot be metabolized, or at least not in its entirety, it accumulates inside the lysosomes of the cells, which causes their enlargement and poor functioning.
Over time, this causes damage to both the cells themselves and the tissues and organs where they are located (mainly blood vessels, kidney and heart cells),” explains Montserrat Morales, head of the Internal Medicine Section and coordinator of the Minority Diseases consultation. of the adult at the 12 de Octubre University Hospital in Madrid.
As is usual in the approach to rare diseases, it presents many healthcare challenges, among which underdiagnosis stands out. At a medical level, “the symptoms can simulate other more common diseases (kidney failure, heart hypertrophy, stroke…). Reaching a diagnosis is always important, but it is essential when the disease has a treatment and the patient’s evolution can improve by establishing it correctly. early mode. It is essential to continue informing about it and promoting its knowledge among doctors,” highlights specialist Morales.
After the diagnosis and for a good quality of life, a good professional team is necessary to carry out correct follow-up. “Fabry Disease requires multidisciplinary care that addresses everything that appears: fatigue, physical and mental discomfort, skin problems, digestive, kidney and heart problems. If good control is not met, the patient will encounter uncontrollable and irreversible situations,” warns the director of the MPS-Lysosomal Association, Jordi Cruz Villalba.
The associative movement is precisely vital for all rare diseases: “Patients above all want you to be by their side, for someone to respond to the infinite number of questions that arise, and to have a good understanding of the situation from third parties. Equitable access to available therapies is also necessary. Associations like ours play a very important role in helping and accompaniment, offering personal and family guidance, and services such as psychological-sexological care,” adds Cruz Villaba.
Current and future therapies
Along with underdiagnosis and lack of awareness, access to treatment is another of the problems of rare diseases. According to Dolors Querol, director of Medical & Technical Affairs at Chiesi Spain and Portugal, “42% of those affected by rare diseases do not have treatment or it is inadequate, and up to 51% have difficulties accessing the necessary medications.”
In the case of Fabry disease, Montserrat Morales makes it clear that: “If left untreated, vital organs such as the kidneys, heart and brain can begin to deteriorate and serious, sometimes life-threatening, complications may arise.”
Thus, the specialist from Hospital 12 de Octubre explains: “Currently there are two types of specific treatment: enzyme replacement therapy, using an enzyme similar to alpha-galactosidase that can be administered intravenously; and chaperones, an oral treatment that is only useful for patients with certain genetic mutations. Although none of the treatments for now are completely curative, the life expectancies of these patients are increasingly better.”
Furthermore, Dr. Morales adds: “Clinical trials are being carried out with gene therapy to introduce new genetic information, usually through a viral vector, which allows the correct enzyme to be produced.” A.L.
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