Patients with Fabry disease are treated in VFN
Patients with Fabry disease are treated in VFN. A specialized center, which is the only one in the Czech Republic, deals with rare diagnoses.
Center for Fabry disease in II. internal clinic - clinic of cardiology and angiology of the 1st Faculty of Medicine UK and VFN at the same time belong to the largest European and world centers of their kind. It cares for more than 230 adult and child patients. The international patient organization Fabry international network (FIN) praised his work for the successful Pastviny project. The award was announced on the occasion of the Fabry Expert Meeting held this year in Prague.
A rare genetic disease
Fabry disease is often misdiagnosed or its diagnosis may be delayed. The disease is caused by a mutation in a gene that affects the production of an enzyme called alpha-galactosidase A. The enzyme is needed to break down certain fatty substances in the body, and its deficiency leads to the accumulation of specific lipids in the body's cells. This occurs especially in the blood vessels, kidneys, heart and nervous system. Various health problems affecting the heart, kidneys and central nervous system stem from this. “Fabry disease affects both sexes, but men are usually affected more and more severely. Women can be asymptomatic carriers, or they can usually have milder symptoms. In female carriers, there is a 50% risk of transmission to offspring of either sex,” explain MUDr. Gabriela Dostálová, Ph.D., from the Center for Fabry Disease II. internal clinics – cardiology and angiology clinics of the 1st Faculty of Medicine, UK and VFN. "Within the Center, there is a close collaboration of doctors and nurses of various specialties in VFN, such as cardiology, nephrology, neurology, genetics, laboratory methods, ENT, eye, skin, psychiatry and social care for comprehensive patient care," emphasizes MUDr. An enduring unique multidisciplinary approach. Fabry disease is not curable, but its early diagnosis and initiation of treatment significantly improve the prognosis of patients.
Appreciation of the work of the center
While in previous years the Fabry international network (FIN) awards went to Tunisia, Poland and last year to Croatia, this year the award stayed in the Czech Republic! "We see this award as proof that we are on the right track. It really makes sense to support the community of people with the rare Fabry disease, educate them in this area and provide them with expert care as part of the Pastviny project.” said prof. MD Aleš Linhart, DrSc., Head II. internal clinics – cardiology and angiology clinics of the 1st Faculty of Medicine, UK and VFN. The Fabry Disease Center at VFN participates in the successful Pastviny project in cooperation with the Czech patient organization META.
