A clinical observation of diagnosis of late-onset Fabry desiase in patient with hypertrophic cardiomyopathy on the basis of the «V.A. Baranov republican hospital» in Karelia Republic

BACKGROUND. Fabry disease is a rare hereditary x-linked liesomic accumulation disease, due to a decrease in the activity of α-galactosidase A, then glicosfinggolipids accumulates in different tissues of the body. The complexity of diagnosing of Fabry disease due to its rarity, as well as a variety of symptoms and syndromes, which can lead to an incorrect diagnosis. Early diagnosis of Fabry disease is crucial for the timely therapeutic intervention and a slowdown in the development of threatening organ damage... PATIENTS AND METHODS. The article presents a clinical observation of diagnosis of late-onset Fabry desiase in patient with hypertrophic cardiomyopathy, CKD C3a and stroke in patient’s history. he decrease in the activity of α-galactosidase A was assessed by determining the concentration of globotrializesfingosin (LySo-GB3) in dry stains of blood by tandem mass spectrometry. RESULTS. The first patient with Fabry's disease in the Republic of Karelia was found in the cardiology department. The patient was offered enzyme replacement therapy, and proband's relatives were offered family screening. At the time of publication, there was no decrease in the activity of α-galactsidase-A among 27 patients on the program hemodialysis. Screening still in progress. CONCLUSION. The results of the study confirm the rarity of the disease and a wide range of its manifestations. The clinical case illustrates the development of cardiovascular, cerebrovascular complications, the progression of renal failure in the Fabry disease.