Guidelines on diagnosis and treatment of Fabry disease in adult patients

Autori:

Ivan Pećin, Iveta Merćep, Vanja Bašić-Kes, Ervina Bilić, Fran Borovečki, Mirna Bradamante, Maja Čikeš, Ksenija Fumić, Ana Godan Hauptman, Bojan Jelaković, Dunja Leskovar, Kristina Paponja Mihanović, Dražen Perica, Luka Prgomet, Sanjin Rački, Kristina Selthofer-Relatić, Marija Štanfel, Nediljko Šućur, Božidar Vujičić, Tamara Vukić, Željko Reiner

Sažetak
Anderson-Fabryjeva bolest metabolička je bolest nakupljanja glikolipida u lizosomima. Multidisiciplinarni pristup neophodan je za rano prepoznavanje, liječenje i prevenciju komplikacija u oboljelih. Ove smjernice nadopuna su smjernica publiciranih u ime Referentnog centra za rijetke i metaboličke bolesti 2014. godine u Liječničkom vjesniku s obzirom na nove dijagnostičke postupke, biljege i terapijske opcije, suradnjom specijalista iz centara izvrsnosti te multidisciplinarnog tima Referentnog centra za rijetke i metaboličke bolesti odraslih Ministarstva zdravstva Republike Hrvatske. Smjernice su prezentirane na godišnjem sastanku Hrvatskog društva za rijetke bolesti Hrvatskoga liječničkog zbora te su jednoglasno prihvaćene.
Summary

Anderson-Fabry disease is a metabolic disease of accumulation of glycolipids in lysosomes. A multidisciplinary approach is necessary for early recognition, treatment and prevention of complications in patients. These guidelines are a supplement to the guidelines published by the Reference Center for Rare and Metabolic Diseases in 2014 in the Medical Journal with regard to new diagnostic procedures, markers and therapeutic options, with the cooperation of specialists from centers of excellence and the multidisciplinary team of the Reference Center for Rare and Metabolic Diseases of Adults of the Ministry of Health of the Republic of Croatia. The guidelines were presented at the annual meeting of the Croatian Society for Rare Diseases of the Croatian Medical Association and unanimously accepted.