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Updated: Jun 13, 2026
07:09
Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States
Published on: April 1, 2015
Fabry disease - Vascular manifestations.
D Karetova1, J Bultas, G Dostalova
1Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital Prague, Czech Republic. dkare@lfl.cuni.cz
VASA. Zeitschrift Fur Gefasskrankheiten
|May 14, 2010
Summary
Fabry disease (FD) is an X-linked metabolic disorder due to alpha-galactosidase A deficiency. This leads to glycosphingolipid accumulation, causing organ damage and often remaining undiagnosed despite available enzyme replacement therapy.
Area of Science:
- Genetics and Metabolism
- Rare Diseases
- Cardiovascular and Renal Medicine
Background:
- Fabry disease (FD) is an X-linked genetic disorder of glycosphingolipid metabolism.
- Deficient alpha-galactosidase A activity causes harmful glycosphingolipid accumulation in multiple organs.
- This accumulation leads to severe complications including vasculopathy, cardiomyopathy, neuropathy, and chronic kidney disease.
Purpose of the Study:
- To summarize the key aspects of Fabry disease.
- To highlight the diagnostic challenges associated with FD.
- To briefly mention current therapeutic approaches for FD.
Main Methods:
- Review of existing literature on Fabry disease pathophysiology and clinical presentation.
- Analysis of diagnostic criteria and challenges.
- Overview of therapeutic strategies, including enzyme replacement therapy.
Main Results:
- Fabry disease is characterized by progressive, multi-organ damage due to glycosphingolipid accumulation.
- Many FD complications are non-specific, leading to significant underdiagnosis.
- Enzyme replacement therapy is a key treatment option.
Conclusions:
- Fabry disease requires increased awareness due to its severe, progressive nature and diagnostic challenges.
- Early diagnosis and intervention are crucial for managing FD complications.
- Enzyme replacement therapy offers a specific treatment for FD.
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