Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life.

ABSTRACT:

Introduction

Fabry disease is a rare multisystemic lysosomal disease resulting in variable manifestations of the gastrointestinal (GI), neurologic, cardiac, and renal systems. Whether GI manifestations are a result of gut dysmotility is undetermined. We aimed to explore GI manifestations in depth and their effect on patients with Fabry disease and to characterize gut motility.

Methods

We recruited adult patients with Fabry disease reporting GI manifestations. All patients answered a battery of questionnaires covering symptom severity, GI-specific quality of life, and effects of work/productivity and underwent a wireless motility capsule test to measure pan-gut motility.

Results

In 48 patients with Fabry disease, abnormal bowel habits and abdominal pain were the most c

SUBMITTER: Bar N 

PROVIDER: S-EPMC10749702 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature