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Susac's syndrome or catastrophic antiphospholipid syndrome?
S Bucciarelli1, R Cervera, M Martínez
1Department of Autoimmune Diseases, Hospital Clinic, Barcelona, Catalonia, Spain.
Insights
Susac's syndrome, a rare condition, can present similarly to catastrophic antiphospholipid syndrome (APS). This case highlights a patient with Susac's syndrome who also met criteria for probable catastrophic APS.
Area of Science:
- Neurology
- Immunology
- Ophthalmology
Background:
- Susac's syndrome is a rare microangiopathic disorder affecting the brain, retina, and inner ear.
- Antiphospholipid syndrome (APS) is an autoimmune disorder increasing blood clot risk.
Observation:
- A patient presented with rapid-onset encephalopathy, hearing loss, and retinal artery occlusions, characteristic of Susac's syndrome.
- This patient also tested positive for antiphospholipid antibodies (aPL).
Findings:
- The patient fulfilled the diagnostic criteria for 'probable' catastrophic antiphospholipid syndrome (APS).
- This suggests a potential overlap or shared pathogenic mechanisms between Susac's syndrome and APS.
Implications:
- This case broadens the understanding of Susac's syndrome presentation.
- It highlights the importance of considering APS in patients with Susac's syndrome features.
- Further research may elucidate the relationship between these two conditions.
Abstract:
Susac's syndrome is a microangiopathic disorder of unknown pathogenesis presenting with encephalopathy, hearing loss and branch retinal artery occlusions. The term 'catastrophic' antiphospholipid syndrome (APS) is used to define a subset of the APS characterized by thrombotic microangiopathy with clinical evidence of three or more organ involvement developed in a short period of time. We describe a patient with typical features of Susac's syndrome, that appeared in less than a week, in whom aPL were detected, thus fulfilling criteria for 'probable' catastrophic APS.
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