Understanding the Gastrointestinal Manifestations of Fabry Disease: Promoting Prompt Diagnosis

Overview

Journal Therap Adv Gastroenterol

Publisher Sage Publications

Specialty Gastroenterology

Date 2016 Jul 2

PMID 27366228

Citations 22

Authors

Claire Zar-Kessler

Amel Karaa

Katherine Bustin Sims

Virginia Clarke

Braden Kuo

Affiliations

Soon will be listed here.

Abstract

Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical.

Citing Articles

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Diet and Physical Activity in Fabry Disease: A Narrative Review.

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Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.

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