eISSN: 1897-4317
ISSN: 1895-5770
Gastroenterology Review/Przegląd Gastroenterologiczny
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vol. 18
Review paper

Fabry disease – what a gastroenterologist should know

Alicja Rydzewska-Rosołowska
Tomasz Hryszko

2nd Department of Nephrology, Hypertension, and Internal Medicine with Dialysis Unit, Medical University of Bialystok, Bialystok, Poland
Gastroenterology Rev 2023; 18 (4): 368–372
Online publish date: 2023/12/08
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Fabry disease is a rare, X-linked metabolic error caused by various mutations in the -galactosidase A gene, which results in the accumulation of glycosphingolipids. Gastrointestinal symptoms are quite common in affected patients; therefore, it is important for gastroenterologists to keep it in mind as a differential diagnosis for especially challenging patients. The following review provides concise information on epidemiology and genetics, signs, and symptoms of the disease, focusing on the gastrointestinal (GI) tract, providing a brief overview of the diagnostic process and the available treatment, both disease specific and supportive, again with a focus on alleviation of gastrointestinal symptoms.

Fabry disease, gastrointestinal symptoms, rare diseases

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