Screening diagnostics of the Fabry disease on the basis of the "V.A. Baranov Republican Hospital" in Karelia Republic

BACKGROUND : Fabry disease is a rare hereditary X-linked lysosomal accumulation disease, caused by a decrease in the activity of alpha-galactosidase A. This leads to the accumulation of glycosfingolipids in different tissues of the body. Due to its rarity and variety of symptoms, it is difficult to diagnose Fabry disease correctly. Early diagnosis is crucial for timely therapeutic intervention and slowing down the development of organ damage. The aim of this study was to screen patients with Fabry's disease in the V.A Baranov Republican Hospital. 27 patients (16 women and 11 men), who were undergoing hemodialysis treatment for terminal renal failure in the hemodialysis department at the Karelia Republican Hospital named after V.A.Baranov, participated in the screening. Also, one patient (a man) from the cardiology department of V.A's Republican Hospital was included in the study. Baranov, observed for hypertrophic cardiomyopathy. Screening was carried out by determining the concentration of globotrialsingosine (LySo-GB3) in dry blood stains by tandem mass spectrometry (TMS) at the National Medical Research Center for Children's Health in Moscow. RESULTS: At the time of publication, among 27 hemodialysis patients, no decrease in α-galactosidase-A activity was revealed. The screening is still ongoing. Also, during the study, the first Fabry disease patient who began enzyme replacement therapy was discovered in the cardiology department. CONCLUSION: The study results confirm the rarity of the disease and the wide range of its manifestations. A clinical case illustrates the development of cardiovascular and cerebrovascular complications and renal failure progression in Fabry disease.