Gastrointestinal involvement in fabry disease

Abstract

Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency. This deficiency results in a progressive accumulation of globotriaosylceramide and related glycosphingolipids, particularly in vascular endothelial cells, renal cells, nerve cells, and cardiomyocytes. Gastrointestinal symptoms are frequent and can be extremely debilitating. It is known that most of the well-characterized gastrointestinal manifestations of Fabry disease are the result of the accumulation of glycosphingolipids, which causes vascular occlusion and malfunction of the peripheral and autonomic nervous system. Although improvement is noted in treating patients with enzyme replacement therapy and migalastat, some continue to experience symptoms after treatment; thus, it remains a significant cause of morbidity, necessitating concurrent adjuvant treatment. Current research is focused on clarifying the underlying dysmotility and further analyzing the correlation between the gut-brain axis, the histologic disease progression, and the clinical symptom presentation.