Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report

Abstract

FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme -galactosidase A. Fabry disease is a multisystem disease and is characterized by damage to vital organs kidneys, heart, brain, with the occurrence of complications that cause an unfavorable prognosis. Autoinflammation mechanisms with signs of chronic inflammation are involved in the pathogenesis of the disease. One of the features of Fabry disease are clinical manifestations in the form of arthralgia, fever, skin lesions, which are similar to rheumatological diseases. The article presents a clinical observation of the classical type of Fabry disease with multiple organ manifestation, which required differential diagnosis with rheumatological diseases. Rheumatologists are specialists who are involved in the early diagnosis of Fabry disease, so they should have a high awareness of this sphingolipidosis.

Keywords

• fabry disease
• sphingolipidosis
• rheumatological aspects
• α-galactosidase
• autoinflammation
• multisystem
• angiokeratoma
• acroparesthesia
• enzyme replacement therapy