What are the diagnostic criteria and treatment options for Behcet's disease?

Diagnostic Criteria and Treatment Options for Behçet's Disease

Behçet's disease is diagnosed based on recurrent oral ulceration plus at least two of the following: recurrent genital ulceration, eye lesions, skin lesions, or positive pathergy test, with treatment tailored to specific organ involvement using immunosuppressive agents. 1

Diagnostic Criteria

The diagnosis of Behçet's disease is primarily clinical, as there is no specific laboratory test. According to the International Group for Behçet's Disease criteria, diagnosis requires:

1. Mandatory criterion: Recurrent oral ulceration (at least 3 times in 12 months)

2. Plus at least 2 of the following:

   • Recurrent genital ulceration
   • Eye lesions (uveitis or retinal vasculitis)
   • Skin lesions (erythema nodosum, pseudofolliculitis, papulopustular lesions)
   • Positive pathergy test (skin hyperreactivity to needle prick) 1

Important Diagnostic Considerations:

• HLA-B51 testing may support diagnosis but is not required
• Rule out mimics such as syphilis and HIV infection, which can present similarly with oral/genital ulcers and uveitis 2
• Behçet's is most common along the ancient Silk Road from Eastern Asia to the Mediterranean Basin 3, 4
• More common in young adults between 20-40 years of age 3

Treatment Approach by Organ System

1. Mucocutaneous Involvement

• First-line: Topical corticosteroids for isolated oral and genital ulcers 1
• Systemic therapy:
  • Colchicine (1-2 mg/day) for recurrent lesions, especially effective for erythema nodosum and genital ulcers in women 1
  • For resistant cases: azathioprine, thalidomide, interferon-alpha, or TNF-alpha inhibitors 1

2. Ocular Involvement

• Posterior segment uveitis (sight-threatening):

  • Azathioprine with systemic corticosteroids as baseline therapy 1
  • For severe disease (>2 lines drop in visual acuity or retinal vasculitis): add cyclosporine-A, infliximab, or interferon-alpha 1
  • Avoid cyclosporine in patients with neurological involvement due to neurotoxicity 1

• Isolated anterior uveitis:

  • Consider systemic immunosuppressives for patients with poor prognostic factors (young age, male sex, early disease onset) 1

3. Vascular Involvement

• Deep vein thrombosis:

  • Immunosuppressives (corticosteroids, azathioprine, cyclophosphamide, or cyclosporine-A) 1
  • Anticoagulants generally not recommended due to risk of bleeding from coexisting arterial aneurysms 1
  • For refractory cases: consider TNF-alpha inhibitors 1

• Arterial aneurysms (especially pulmonary):

  • High-dose corticosteroids and cyclophosphamide 1
  • Consider TNF-alpha inhibitors for refractory cases 1
  • For symptomatic aneurysms: embolization preferred over surgery in patients at risk of major bleeding 1

4. Neurological Involvement

• Parenchymal disease:

  • High-dose corticosteroids (3-7 pulses of IV methylprednisolone 1g/day) during attacks 1
  • Maintenance with azathioprine or cyclophosphamide 1
  • For refractory cases: interferon-alpha or TNF-alpha inhibitors 1

• Dural sinus thrombosis:

  • Brief courses of corticosteroids 1

5. Gastrointestinal Involvement

• Typically presents as deep ulcerations in the ileocecal region 3
• Medical therapy (try before surgery except in emergencies):
  • Sulfasalazine, corticosteroids, azathioprine 1
  • For refractory cases: TNF-alpha inhibitors or thalidomide 1
• Surgery: Consider for perforation or other emergencies 3

6. Joint Involvement

• Usually mild and non-erosive, affecting large joints (knees, ankles) 1
• Colchicine 1-2 mg/day is usually effective 1

Treatment Monitoring and Prognosis

• Disease typically runs a relapsing and remitting course 1
• Treatment should aim to promptly suppress inflammatory exacerbations to prevent irreversible organ damage 1
• Disease manifestations often ameliorate over time 1
• Poor prognostic factors include male sex, young age at onset, and involvement of eye, vascular, neurological or gastrointestinal systems 1, 4

Common Pitfalls to Avoid:

1. Misdiagnosis of sexually transmitted diseases (syphilis, HIV) as Behçet's disease 2
2. Using anticoagulants without ruling out pulmonary arterial aneurysms 1
3. Using cyclosporine-A in patients with neurological involvement 1
4. Delaying treatment for severe ocular, vascular, or neurological manifestations 1

Behçet's disease requires a multidisciplinary approach involving rheumatology, ophthalmology, dermatology, and other specialties depending on organ involvement 1.