Behçet disease

Clinical Manifestations

• Skin and mucosal
  • Oral ulcers (98%), which are usually painful, recurrent, and can involve the soft and hard palate, buccal mucosa, tongue, gingiva, lips, and tonsils, and usually heal without scarring
  • Genital ulcers (65%): recurrent, painful, mostly heal with scarring, most commonly on scrotum in men and vulva or vagina in women
  • Orchiepididymitis (6%)
  • Skin lesion (75%), including pseudofolliculitis, acne-like papulopustular lesions, erythema nodosum, positive pathergy test
• Joints (50%)
  • Oligoarticular arthritis: primarily involving knees, ankles, wrists, and elbows; non-erosive and non-deforming, and more common in patients with acneiform skin lesions
  • Can be a polyarticular arthritis as well
  • Usually excludes sacroiliitis
  • Enthesopathy
• Ocular (50%): hypopyon, non-granulomatous panuveitis, retinal vasculitis
• CNS involvement (10-30%): mesodiencephalic and brain-stem inflammation, encephalitis, meningitis, myelitis, neurocognitive dysfunction, cerebral-vein thrombosis
• Cardiovascular
  • Arterial (2-18%): arterial aneurysms, arterial stenosis, arterial thrombosis
  • Cardiac (6%): valvulitis, myopericarditis, coronary arteritis
  • Venous (15-40%): DVT, superficial thrombophlebitis
• Gastrointestinal (0-20%): mucosal ulcers, abdominal pain, hemorrhage, perforation

Diagnostic Criteria

ICBD 2014

• Criteria:
  • Recurrent oral ulcers (2 points)
  • Genital ulcers (2 points)
  • Ocular lesions (2 points)
  • Skin lesions (1 point)
  • Vascular manifestations (1 point)
  • Neurologic manifestations (1 point)
  • Positive pathergy test (optional) (1 point)
• Interpretation: diagnosis based on ≥4 points
  • Sensitivity 95%, specificity 92%

ISG 1990

• Recurrent oral ulcerations (aphthous or herpetiform) at least three times in one year, plus
• Any two of the following:
  • Recurrent genital ulcerations
  • Eye lesions 9uveitis or retinal vasculitis) observed by an ophthalmologist
  • Skin lesions (erythema nodosum, pseudofolliculitis, papulopustular lesions, aceiform nodules) in adult patients not treated with corticosteroids
  • Positive pathergy test read by a physician at 24 to 48 hours
• Sensitivity 95%, specificity 96%

Management

• Isolated skin and mucosal ulcers: tropical treatments for active ulcers, with colchicine as preventative treatment
• Refractory or widespread lesions or ulcers: prednisone 15 mg daily for 1 week, followed by a taper over several weeks
• Other options for more advanced presentations include systemic glucocorticoids, azathioprine, TNF-α inhibitors,

Further Reading

• Behçet Syndrome. NEJM 2024;390(7):640-651. doi: 10.1056/NEJMra2305712