Behçet Disease

Key Features

• Causes recurrent attacks of oral aphthous ulcers, genital ulcers, uveitis, and skin lesions

• Onset usually in young adults, aged 25–35 yr

• Blindness, CNS abnormalities, and thrombosis or rupture of large vessels are the most serious complications

Clinical Findings

• Recurrent oral and genital ulcers

• Erythema nodosum–like lesions

• Follicular rash

• Eye abnormalities include

  • Keratitis

  • Retinal vasculitis

  • Anterior uveitis (often with hypopyon, or pus in the anterior chamber)

• Seronegative arthritis occurs in about two-thirds of patients, most commonly affecting the knees and ankles

• CNS abnormalities include

  • Sterile meningitis (recurrent meningeal headaches associated with lymphocytic pleocytosis)

  • Cranial nerve palsies

  • Seizures

  • Encephalitis

  • Mental disturbances

  • Spinal cord lesions

• Aphthous ulcerations of the ileum and cecum and other forms of gastrointestinal involvement develop in ~25% of patients

• Large vessel vasculitis can lead to pulmonary artery aneurysms and life-threatening pulmonary hemorrhage

• Hypercoagulable tendency that may lead to complicated venous thrombotic events, particularly deep venous thromboses, pulmonary emboli, cerebral sinus thrombosis, and other problems associated with clotting

• Clinical course may be chronic but is often characterized by remissions and exacerbations

Diagnosis

• Clinical diagnosis

• CNS lesions may mimic multiple sclerosis radiologically

• Differential diagnosis

  • Inflammatory bowel disease

  • Systemic lupus erythematosus

  • Recurrent aphthous ulcers

  • Herpes simplex infection

  • Ankylosing spondylitis

  • Reactive arthritis

  • Syphilis

  • Sarcoidosis

  • HIV infection

Treatment

• Colchicine (0.6 mg once to three times daily orally) and topical corticosteroids (oral dexamethasone suspension 1 mg twice daily swish and spit of 0.5 mg/5 mL) may ameliorate the mucocutaneous ulcerative symptoms

• Apremilast

  • A selective phosphodiesterase-4 inhibitor

  • Effective for the treatment of oral ulcers

• Corticosteroids (prednisone 1 mg/kg/day orally) are a mainstay of initial therapy for severe disease manifestations

• Azathioprine (2 mg/kg/day orally) may be an effective steroid-sparing agent

• Infliximab, cyclosporine, or cyclophosphamide is indicated for severe ocular and CNS complications of Behçet disease