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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
What does it take to diagnose Behçet disease?
Ancuta Pandrea1, Alla Rudinskaya, Betty Klein
1Department of Medicine, Section of Rheumatology, Danbury Hospital, Yale Medical School Affiliate, Danbury, CT, USA.
Summary
This case highlights Behçet disease, a rare systemic inflammatory condition. Atypical presentations, including vascular aneurysms and thrombosis without typical ulcers, can still indicate Behçet vasculitis.
Area of Science:
- Vascular Medicine
- Rheumatology
- Ophthalmology
Background:
- Behçet disease is a rare systemic inflammatory disorder of unknown cause.
- It classically presents with oral ulcers, genital ulcers, and uveitis.
- Diagnostic criteria exist, but atypical presentations can challenge diagnosis.
Observation:
- A 26-year-old male presented with brachial plexopathy secondary to axillary aneurysm.
- Further evaluation revealed common carotid artery aneurysm, SVC, and left subclavian vein thrombosis.
- He later developed severe bilateral panuveitis with hypopyon, retinal vasculitis, and optic nerve inflammation, despite no history of oral or genital ulcers.
Findings:
- The patient's presentation of multiple arterial aneurysms, deep vein thrombosis, panuveitis, and a positive pathergy test led to a diagnosis of Behçet disease.
- Arterial aneurysms occur in 3-5% of Behçet disease patients, while deep vein thrombosis is a common venous manifestation.
- Ocular findings, including uveitis and retinal vasculitis, are crucial for diagnosis and prognosis.
Implications:
- This case underscores the existence of incomplete and atypical forms of Behçet vasculitis.
- Clinicians must consider Behçet disease in patients with unexplained vascular and inflammatory manifestations, even without classic mucocutaneous lesions.
- Early recognition of atypical Behçet disease is vital for timely management and preventing severe complications.
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