Screening Possibilities for Fabry Disease: Experience of the Ryazan Region

Aim To evaluate the possibilities of screening for Fabry disease (FD) in a particular region of the Russian Federation.Material and methods This was an open prospective non-comparative study. The screening included patients with left ventricular (LV) hypertrophy >13 mm without severe hypertension; patients who had suffered stroke without an apparent cause; patients with peripheral pain syndrome associated with distal polyneuropathy with predominant damage to small fibers; patients with signs of FD during physical examination; coarse facial features; angiokeratomas (inner thighs, hands, abdomen, oral mucosa); thermoregulation disorders; chronic kidney disease. Screening for FD in the region was accompanied by educational activities on the diagnosis of the most common rare (orphan) diseases in adults; also, the routing of patients with FD was mapped out. General practitioners and cardiologists also had an opportunity to send dried blood spots directly to reference centers for the diagnosis of FD and other diseases associated with LV hypertrophy.Results Of the 125 patients who underwent the screening, only 4 had a reduced alpha-galactosidase A activity (to 1.71; 0.78; 0.44; 0.60 μmol/l/h), and in one of them, the diagnosis of FD was genetically confirmed. Five patients with "atypical" FD were identified during the work on FD diagnostics in the region, due to the improved knowledge about the signs of orphan diseases, as well as the mapped-out patient routing with the possibility to evaluate the panel of enzyme activity and metabolites of the diseases associated with LV hypertrophy.Conclusion During the screening examination of 125 patients with suspected FD, it was possible to confirm the diagnosis in one (0.8%) patient. To increase the effectiveness of screening, it is necessary not only to provide the opportunity for diagnosing enzymes and metabolites, but also to conduct educational programs with the formation of routing for patients with suspected orphan diseases associated with LV hypertrophy.