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Published on: December 20, 2017
Pathologic substrate of gastropathy in Anderson-Fabry disease
Alessandro Di Toro1, Nupoor Narula1,2, Lorenzo Giuliani1
1Center for Inherited Cardiovascular Diseases, Transplant Research Area, Fondazione IRCCS Policlinico San Matteo, Piazzale Golgi 19, 27100, Pavia, Italy.
Abstract:
In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonstration of substrate accumulation in GI cells. We demonstrate substrate accumulation in gastric epithelial, vascular, and nerve cells of patients with classic AFD and, vice versa, absence of accumulation in late-onset AFD and controls.
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