What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview

Abstract

Abstract Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients’ quality of life and change the natural history of these diseases.

Keywords

• Inborn errors of metabolism
• Lysosomal storage diseases
• Sphingolipids
• Sphingolipidoses
• Gaucher disease
• Fabry disease