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Updated: Jun 29, 2025
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
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Fabry disease - what a gastroenterologist should know
Alicja Rydzewska-Rosołowska1, Tomasz Hryszko1
12 Department of Nephrology, Hypertension, and Internal Medicine with Dialysis Unit, Medical University of Bialystok, Bialystok, Poland.
Przeglad Gastroenterologiczny
|April 4, 2024
Summary
Fabry disease, a rare genetic disorder, causes glycosphingolipid buildup. Gastroenterologists should consider Fabry disease in patients with difficult-to-explain GI symptoms.
Area of Science:
- Genetics and Metabolism
- Gastroenterology
Background:
- Fabry disease is a rare X-linked inherited metabolic disorder.
- It stems from mutations in the alpha-galactosidase A gene, leading to glycosphingolipid accumulation.
- Gastrointestinal (GI) symptoms are prevalent in Fabry disease patients.
Purpose of the Study:
- To review the epidemiology, genetics, and clinical manifestations of Fabry disease.
- To emphasize the importance of recognizing GI symptoms in Fabry disease diagnosis.
- To provide an overview of diagnostic methods and treatment strategies for GI symptoms.
Main Methods:
- Literature review focusing on Fabry disease.
- Analysis of epidemiological and genetic data.
- Synthesis of information on clinical presentation, diagnosis, and treatment.
Main Results:
- Fabry disease presents with diverse GI manifestations.
- Early diagnosis and management are crucial for symptom alleviation.
- Treatment includes enzyme replacement and supportive care for GI issues.
Conclusions:
- Fabry disease is an important differential diagnosis for unexplained GI symptoms.
- Gastroenterologists play a key role in identifying and managing affected individuals.
- Comprehensive management addresses both the underlying disease and its GI complications.
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