Fabry disease – what a gastroenterologist should know
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...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2023-12-01
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| Series: | Gastroenterology Review |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Fabry-disease-what-a-gastroenterologist-should-know,41,51980,1,1.html |
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| Summary: | 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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| ISSN: | 1895-5770 1897-4317 |