Illuminating Fabry disease

April is Fabry Disease Awareness Month and an opportunity to take a closer look at this rare inherited disease. Historically, the prevalence of Fabry disease was thought to be between one in 40,000 and one in 117,000. Newborn screening, performed in several countries, has shown that the prevalence is closer to one in 1,368 to one in 8,882.1 Dr Nicola Davies provides a summary of the condition, discusses treatment challenges, and highlights what pharma is doing to progress treatment within this therapeutic area.

What is Fabry disease?

Fabry disease is a progressive lysosomal storage disorder characterized by defects in enzyme sacs in body cells (lysosomes). Lysosomes assist with the digestion of large molecules and the recycling of these molecules by other cell parts.2 The condition is generally diagnosed at birth through newborn testing, although some individuals are diagnosed in adulthood.