A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease
Systemic vasculitis is a category of autoinflammatory diseases usually involving multiple organs. Involvement of the central nervous system (CNS) may mimic other disorders, hence resulting in overdiagnosis. This is a case report of a young man who presented with acrodynia, episodic pyrexia, and recu...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
World Scientific Publishing
2021-07-01
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| Series: | Journal of Clinical Rheumatology and Immunology |
| Subjects: | |
| Online Access: | http://www.worldscientific.com/doi/epdf/10.1142/S2661341721720032 |
| Summary: | Systemic vasculitis is a category of autoinflammatory diseases usually involving multiple organs. Involvement of the central nervous system (CNS) may mimic other disorders, hence resulting in overdiagnosis. This is a case report of a young man who presented with acrodynia, episodic pyrexia, and recurrent strokes. He was treated for systemic vasculitis with glucocorticoids and immunosuppressants, which failed to prevent the stroke. Finally, Fabry disease was diagnosed after α-galactosidase A gene mutation analysis was done. Rheumatologists should be aware of Fabry disease, which may present with multi-system involvement that mimics vasculitis. To avoid inappropriate treatment, a comprehensive differential diagnosis should be considered before a diagnosis of primary systemic vasculitis is made. Recurrent strokes, especially in males younger than 40, should raise suspicions of Fabry disease. |
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| ISSN: | 2661-3417 2661-3425 |