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 |
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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 |
| _version_ | 1818437729195655168 |
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| author | Xiaoyan Huang Lijun Zhang Jinxian Huang Jifu Cai |
| author_facet | Xiaoyan Huang Lijun Zhang Jinxian Huang Jifu Cai |
| author_sort | Xiaoyan Huang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T17:29:18Z |
| format | Article |
| id | doaj.art-524c603aaa314a76a8b8cac32b6c944a |
| institution | Directory Open Access Journal |
| issn | 2661-3417 2661-3425 |
| language | English |
| last_indexed | 2024-12-14T17:29:18Z |
| publishDate | 2021-07-01 |
| publisher | World Scientific Publishing |
| record_format | Article |
| series | Journal of Clinical Rheumatology and Immunology |
| spelling | doaj.art-524c603aaa314a76a8b8cac32b6c944a2022-12-21T22:53:09ZengWorld Scientific PublishingJournal of Clinical Rheumatology and Immunology2661-34172661-34252021-07-01211475010.1142/S266134172172003210.1142/S2661341721720032A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry DiseaseXiaoyan Huang0Lijun Zhang1Jinxian Huang2Jifu Cai3Department of Rheumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, 518053, ChinaDepartment of Rheumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, 518053, ChinaDepartment of Rheumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, 518053, ChinaDepartment of Neurology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, 518053, ChinaSystemic 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.http://www.worldscientific.com/doi/epdf/10.1142/S2661341721720032fabry diseasecentral nervous system vasculitissystemic vasculitisstrokefever of unknown origin |
| spellingShingle | Xiaoyan Huang Lijun Zhang Jinxian Huang Jifu Cai A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease Journal of Clinical Rheumatology and Immunology fabry disease central nervous system vasculitis systemic vasculitis stroke fever of unknown origin |
| title | A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease |
| title_full | A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease |
| title_fullStr | A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease |
| title_full_unstemmed | A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease |
| title_short | A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease |
| title_sort | rare cause of young stroke what rheumatologists should know about fabry disease |
| topic | fabry disease central nervous system vasculitis systemic vasculitis stroke fever of unknown origin |
| url | http://www.worldscientific.com/doi/epdf/10.1142/S2661341721720032 |
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