A family case of fabry disease in the practice of a pediatric rheumatologist

Abstract

Fabry disease is a rare hereditary disease related to lysosomal storage diseases, linked to the X chromosome. Fabry disease leads to disruption of glycosphingolipid metabolism due to deficiency or absence of the enzyme α-galactosidase A. Fabry disease is a multisystem progressive disease. One of the first clinical manifestations of Fabry disease is pain in the fingers, toes, palms and feet, and sometimes imitates rheumatological diseases, which requires rheumatologists to have sufficient knowledge about this pathology. The article presents a family case of diagnosis of Fabry disease in the practice of a pediatric rheumatologist.