Fabry disease – what a gastroenterologist should know

Alicja Rydzewska-Rosołowska; Tomasz Hryszko

doi:10.5114/pg.2023.133516

eISSN: 1897-4317
ISSN: 1895-5770

Gastroenterology Review/Przegląd Gastroenterologiczny

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4/2023
vol. 18

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abstract:

Review paper

Fabry disease – what a gastroenterologist should know

Alicja Rydzewska-Rosołowska

¹

,

Tomasz Hryszko

¹

2nd Department of Nephrology, Hypertension, and Internal Medicine with Dialysis Unit, Medical University of Bialystok, Bialystok, Poland

Gastroenterology Rev 2023; 18 (4): 368–372

DOI: https://doi.org/10.5114/pg.2023.133516

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.

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Fabry disease – what a gastroenterologist should know

Alicja Rydzewska-Rosołowska 1 , Tomasz Hryszko 1

Fabry disease, gastrointestinal symptoms, rare diseases

Alicja Rydzewska-Rosołowska

¹

,

Tomasz Hryszko

¹