Behçet's Disease Overview

Introduction

• Behçet's disease is a rare vasculitic disorder marked by oral aphthous ulcers, genital ulcers, and uveitis.

Epidemiology

• Prevalence in Europe ranges from 0.3 to 6.4 per 100,000 individuals.
• Significantly more prevalent in regions along the Ancient Silk Road, particularly in Turkey (400 per 100,000).
• Familial clustering occurs rarely in Europe but is noted in up to 18% of Turkish cases.
• Typically presents in the 3rd decade of life.
• Affected ratio is 5 males to 1 female.

Etiology

• The specific cause remains unknown.
• Possible genetic involvement linked to HLA antigen B51.
• Environmental factors such as infections and smoking may contribute.

Clinical Manifestations

Mucocutaneous Involvement

• Oral Aphthae: Painful lesions that vary in size.
• Genital Aphthae: Last longer than oral lesions, deeper lesions with post-healing scars.
• Erythema Nodosum: More common in females.
• Other Lesions: Papulo-pustular lesions and superficial thrombophlebitis.
• Pathergy Test: Highly specific indicator for Behçet's disease.

Ocular Inflammation

• Characterized by anterior uveitis, potentially with:
  • Hypopyon
  • Panuveitis involving the posterior chamber
  • Retinal vasculitis with complications.

Central Nervous System Involvement

• May include aseptic meningitis or parenchymal lesions causing focal or diffuse dysfunction.
• Predilection for diencephalon, midbrain, and brainstem, mimicking multiple sclerosis.

Musculoskeletal Manifestations

• Intermittent, symmetric oligoarthritis typically affecting knees, ankles, hands, and wrists.
• Commonly presents with arthralgia.

Cardiovascular Manifestations

• Risk of cerebral and deep venous thrombosis.
• Possible arterial complications such as stenoses, occlusions, or aneurysms.

Gastrointestinal Manifestations

• Symptoms include melena and abdominal pain.
• Inflammation can resemble inflammatory bowel disease (IBD).

Classification Criteria

• Recurrent Oral Ulcers: At least 3 episodes within 12 months.
• Requires 2 of the following:
  • Eye Lesion: Anterior/posterior uveitis or retinal vasculitis.
  • Skin Lesion: Erythema nodosum or pseudofolliculitis.
  • Pathergy Test: Positive if interpreted within 24-48 hours.

Laboratory Features

• Acute-phase reactants may be normal or elevated.
• HLA B51 is associated with Behçet's disease in high-prevalence areas, indicating a connection to ocular disease.

Treatment

• Glucocorticoids: Topical or intralesional for managing aphthous lesions.
• Colchicine: Primarily for musculoskeletal symptoms; higher doses may cause GI intolerance.
• Thalidomide: Used for mucocutaneous lesions, but potential toxicity is a concern.
• Combination Therapy: Glucocorticoids combined with immunosuppressants for severe manifestations.
• Specific Treatments:
  • Pulmonary arterial aneurysms may respond to prednisone and cyclophosphamide.
  • Cerebral venous thrombosis treated with anticoagulants and glucocorticoids.
  • Budd-Chiari syndrome management includes anticoagulants and immunosuppressive medications.
  • Cyclosporine may be used for uveitis, either alone or in combination.