Gastrointestinal sensory neuropathy and dysmotility in Fabry disease: Presentations and effect on patient's quality of life.

This is the largest study of GI manifestations in patients with Fabry disease that characterizes gut motility. We found little association between GI manifestations and motility indices, suggesting that visceral-hypersensitivity may be a major driver of symptoms. GI symptoms affect different aspects of patients' lives, yet are not always well discussed or optimally managed in Fabry disease. Disease severity scores, when used for therapeutic decision making do not often include GI symptoms or their impact.