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Anderson–Fabry disease is a lysosomal storage disorder caused by mutation in the GLA (α-galactosidase A) gene. Inheritance is X-linked and results in accumulation of glycosphingolipids, ultimately causing cellular dysfunction, inflammation, fibrosis and progressive organ dysfunction. Storage in vascular endothelial cells causes further tissue damage due to poor perfusion.
Classically it presents in young men with acroparasthesia, skin phenomena (angiokeratoma and hypohydrosis), gastrointestinal symptoms and renal failure.1 However, it is heterogeneous in presentation and some late-onset variants, affecting a single organ, have been described. Furthermore, the effect on women has now been recognised, with some being as severely affected as men.2 This may at least in part result from skewing of X-inactivation (lyonisation). Prior to modern transplantation and dialysis, Anderson–Fabry disease was untreatable. More recently enzyme replacement therapy with the missing α-galactosidase A has been reported to have beneficial effects on symptoms, organ function and architecture.3–5
We describe here the role of the autopsy in the diagnosis …