Soaring new possibilities in Fabry disease
Fabry disease is a lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, leading to accumulation of glycosphingolipids, particularly globotriaosylceramide, in various cell types throughout the body.
Fabry signs & symptoms
Fabry disease is a lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, leading to accumulation of glycosphingolipids, particularly globotriaosylceramide, in various cell types throughout the body. This can result in multisystem disease, mainly affecting the kidneys, heart, and nervous system.
- Recurrent attacks of severe pain in hands and feet
- Small purple or dark red dots on the skin (angiokeratoma)
- Decreased ability to sweat
- Enlargement of the left ventricle of the heart in young adults
- Stroke of unknown cause in young adults
- Chronic kidney disease in young adults
- Multiple cysts in the kidneys
- Swirl-shaped deposits in the cornea that opticians and ophthalmologists can see during an eye examination
The patient journey
Fabry disease has a profound emotional and physical impact on affected individuals and their families.1 Disease manifestations in patients with the same gene mutation, even males from the same family, may vary, making counselling difficult.
Upcoming events
Finnish National Fabry Nurse Training
Nordic Nephrology Meeting
The past decade has witnessed an increased understanding of the pathogenesis, natural history, and prevalence of fabry disease, and the effectiveness and limitations of specific treatments.2 The advances have changed our approach to disease monitoring and therapeutic intervention, leading to updated fabry disease treatment guidelines.2
As our understanding of fabry disease grows, is it time to rethink what’s possible for patients?