Difficulties in the diagnosis of Fabry disease in real clinical practice

Background. Fabry disease is a genetically determined disease in which deficiency or complete absence of α-galactosidase A (GLA/AGAL) activity is formed. Diagnosis of this pathology is difficult, especially in late onset, with predominant cardiac involvement.

The aim. Evaluation of specially designed screening algorithms for Fabry disease in real clinical practice. Materials and methods. The analysis was conducted retrospectively on the basis of medical documentation. 91 848 medical reports were analyzed. Two algorithms have been developed for the creation of the database. The first algorithm included patients aged 25–60  years with a  left ventricle wall thickness of  13  mm or  more, as indicated by echocardiography and magnetic resonance imaging, and exhibiting disturbances in cardiac rhythm, cardiac conduction, or a reduction in the PQ interval, as determined by echocardiography. Exclusion criteria included hypertension, aortic aneurysm, cardiac amyloidosis, and Gaucher disease. The second algorithm included patients aged 25–60 years with a left ventricle wall thickness of 13 mm or more, in conjunction with hypertension, disturbances in cardiac rhythm, cardiac conduction, or reduction of PQ interval. The exclusion criteria were cardiac amyloidosis and Gaucher disease.

Results. As a result of applying two algorithms, the following groups were formed: Group 1 – 46 patients, including 17 patients with cardiac rhythm or conduction disorders; Group 2 – 31 patients, including 24 patients with cardiac rhythm or conduction disorders. Patients were invited to an appointment for genetic testing and measurement of α-D-galactose activity. All patients tested had α-D-galactose enzyme activity levels within normal limits and the genetic test was negative.

Conclusion. The incidence of Fabry disease in the cardiac population is low. However, the use of specialized algorithms for screening patients with this pathology will allow identifying patients at early stages of the disease for timely initiation of therapy.

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