Female Anderson-Fabry disease mimicking hypertrophic cardiomyopathy

摘要

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.rnClassically it presents in young men with acroparasthesia, skin phenomena (angioker-atoma and hypohydrosis), gastrointestinal symptoms and renal failure.