What are the typical presentations of Behcet disease?

Typical Presentations of Behçet Disease

Behçet disease classically presents with recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesions, with potential involvement of vascular, neurological, and gastrointestinal systems. 1

Core Clinical Manifestations

Mucocutaneous Features (Most Common)

• Oral Ulcers:

  • Recurrent painful aphthous ulcers (at least 3 times in 12 months)
  • Often the initial and most consistent manifestation
  • Usually painful, round or oval with discrete borders and yellowish necrotic base

• Genital Ulcers:

  • Similar in appearance to oral ulcers but deeper and more painful
  • May heal with scarring
  • Common locations: scrotum, penis in males; vulva, vagina in females

• Skin Lesions:

  • Erythema nodosum: painful, red nodules typically on lower extremities
  • Papulopustular/acne-like lesions: resembling acne but found in unusual locations
  • Pseudofolliculitis: follicular pustules with surrounding erythema
  • Positive pathergy test: pustular skin reaction 24-48 hours after needle prick (more common in Mediterranean and Middle Eastern patients) 2, 1

Ocular Involvement (50-70% of patients)

• Bilateral recurrent uveitis (anterior, posterior, or panuveitis)
• Retinal vasculitis
• May lead to blindness if untreated
• Often more severe in males 1

Additional Organ System Involvement

Vascular Manifestations (15-40% of patients)

• Venous involvement: superficial thrombophlebitis, deep vein thrombosis
• Arterial involvement: aneurysms, occlusions
• Potential for pulmonary arterial aneurysms (rare but life-threatening) 2, 1

Neurological Involvement (5-10% of patients)

• Parenchymal disease: meningoencephalitis, brainstem lesions
• Non-parenchymal disease: dural sinus thrombosis, intracranial hypertension
• May present with headache, focal neurological deficits, or behavioral changes 2, 1

Gastrointestinal Involvement (10-30% of patients)

• Deep ulcerations primarily in ileocecal region
• Can mimic inflammatory bowel disease
• May lead to perforation, bleeding, or fistula formation 2, 3

Articular Involvement (30-50% of patients)

• Non-erosive, non-deforming arthritis
• Usually affects large joints (knees, ankles, wrists)
• Often follows a mild, transient course 2

Demographic and Disease Pattern

• Highest prevalence along the ancient Silk Road (Turkey: 80-370 cases per 100,000)
• Much lower prevalence in Western countries (US: 1-3 cases per million)
• Typically begins in third or fourth decade of life
• Equal gender distribution overall, but more severe in males
• Strong genetic association with HLA-B51 allele 1, 4
• Characterized by unpredictable exacerbations and remissions
• Disease activity often decreases over time 1, 5

Diagnostic Criteria

According to the International Study Group for Behçet's disease, diagnosis requires:

• Recurrent oral ulceration (at least 3 times in 12 months) plus at least 2 of:
  • Recurrent genital ulceration
  • Eye lesions (uveitis or retinal vasculitis)
  • Skin lesions (erythema nodosum, pseudofolliculitis, papulopustular lesions)
  • Positive pathergy test 1

Important Clinical Considerations

• The disease follows a chronic, relapsing course with unpredictable flares
• Major morbidity and mortality are associated with vascular, neurological, and ocular involvement
• Early diagnosis and treatment are crucial to prevent irreversible organ damage
• Males typically have more severe disease with worse prognosis 4
• No specific laboratory test exists for diagnosis; diagnosis is primarily clinical

Understanding these diverse manifestations is essential for early recognition and management of Behçet disease to prevent serious complications and improve patient outcomes.