STAGES OF DEVELOPMENT AND MODERN APPROACHES TO THE DIAGNOSIS OF FABRY'S DISEASE

This coordinated statement by the Fabry Disease Expert Group was created with the aim of identifying areas where experts agreed on the conceptual, clinical and therapeutic aspects of Fabry disease. In addition, it was aimed at providing medical professionals with advice on the best methods of managing patients with Fabry's disease in both adults and children. This agreed statement notes the clinical heterogeneity of FD and the multitude of pathogenic variants of the GLA gene. This highlights the importance of an individual approach to the treatment of patients. Experts agreed that a high index of suspicion in patients with symptoms and screening of certain risk groups are crucial for a timely and accurate diagnosis of FD. They also increase the awareness of attending physicians about various pathogenetic variants and their clinical consequences.