Overview
Definition
A multisystem, chronic inflammatory disorder characterized by recurrent, painful oral and genital ulcers, uveitis, and skin lesions, associated with systemic vasculitis.
Epidemiology
Most common along the ancient 'Silk Road' (Middle East, Central Asia, East Asia). Typically affects young adults.
Etiology & Risk Factors
- HLA-B51 association
- Autoinflammatory immune activation affecting vessels of all sizes
Clinical Symptoms
- Recurrent, painful aphthous oral ulcers (essential for diagnosis)
- Painful genital ulcers (scarring)
- Anterior or posterior uveitis (risk of blindness)
- Erythema nodosum / Acneiform skin lesions
- Pathergy reaction (exaggerated skin inflammatory response to minor trauma)
Clinical Approach
Diagnosis
- Clinical criteria (Oral ulcers + 2 of: genital ulcers, eye lesions, skin lesions, or positive pathergy test)
- Normal or elevated inflammatory markers
Management
- Colchicine (first-line for mucosal ulcers)
- Topical or systemic corticosteroids for flares
- Immunosuppressants (Azathioprine, TNF inhibitors, or Interferon-alpha) for severe ocular or systemic organ involvement
Complications
- Permanent blindness (due to retinal vasculitis)
- Aneurysms (especially pulmonary artery aneurysms, which can rupture and cause fatal hemoptysis)
- Dural sinus thrombosis / Neuro-Behçet's