The Fabry syndrome is an inherited genetic disorder that significantly impacts the quality of life of patients. This condition was first described by a German physician, Johannes Fabry. The underlying pathological process of the disease is due to the deficiency of an important enzyme, alpha-galactosidase. As a result, globotriaosylceramide (GL-3) accumulates in the cells, particularly in the lysosomes, leading to various organ damage. Diagnosis The diagnosis of Fabry syndrome is not always straightforward, especially when classic symptoms do not manifest immediately. Early detection is crucial for successful treatment. Due to the various manifestations of the disease, patients’ anxieties and symptoms encompass a wide spectrum, posing additional challenges during diagnosis. Genetic…