Behçet's disease diagnostic study of choice

Currently, there is not a specific test to confirm the diagnosis of Behçet’s disease. It is diagnosed clinically by specific patterns of symptoms and repeated outbreaks obtained by a thorough history of the patient’s symptoms (outlined below). Behçet’s disease is a diagnosis of exclusion, and other chronic inflammatory diseases should be evaluated for. The various inflammatory symptoms do not necessarily occur together, and they will vary in severity.

• The pathergy test should be performed when:^[1]
  • The patient presented with symptoms of vision problems, mouth sores, and genital ulcers.
  • A positive pathergy reaction (papule >2 mm dia. 24-48 hrs or more after needle-prick) is detected in the patient.
• Behçet disease is mainly diagnosed based on clinical presentation.

Mandatory criterion:

Recurrent oral ulceration (≥3 times in 1 year).

Plus two or more of the following:

Genital ulceration.

Eye lesions (anterior or posterior uveitis, vitreous cells, or retinal vasculitis).

Skin lesions (erythema nodosum, pseudofolliculitis, papulopustular lesions).

Positive pathergy test.

Performance: Sensitivity 81–85%, Specificity 96%.

A point-based system:

Recurrent oral ulceration → 2 points.

Genital ulceration → 2 points.

Ocular lesions → 2 points.

Skin lesions → 1 point.

Vascular manifestations → 1 point.

Neurologic manifestations → 1 point.

Positive pathergy test (optional) → 1 point.

Classification requires ≥4 points.

Performance: Sensitivity 94–95%, Specificity 91–92%. There are three levels of certainty for diagnosis:

• International Study Group diagnostic guidelines (very strict for research purposes)
• Practical clinical diagnosis (generally agreed pattern but not as strict)
• ‘Suspected’ or ‘Possible’ diagnosis (incomplete pattern of symptoms)
• International Criteria for Behçet’s disease (ICBD)

The ISGD guidelines recommend the following:^[2][3]

• Must have oral (aphthous) ulcers (any shape, size or number at least 3 times in any 12 months), along with 2 out of the next 4 “hallmark” symptoms:
  • Genital ulcers (including anal ulcers and spots in the genital region and swollen testicles or epididymitis in men)
  • Skin lesions (papulo-pustules, folliculitis, erythema nodosum, acne in post-adolescents not on corticosteroids)
  • Eye inflammation (iritis, uveitis, retinal vasculitis, cells in the vitreous)
  • Pathergy reaction (papule >2 mm diameter 24-48 hrs or more after needle-prick)

The practical clinical diagnosis for Behçet disease recommend the following:^[1]

• Mouth ulcers, along with 1 of the 4 hallmark symptoms above and with 2 of the symptoms below:
  • Arthritis/arthralgia
  • Nervous system symptoms
  • Stomach and/or bowel inflammation
  • Deep vein thrombosis
  • Superficial thrombophlebitis
  • Cardio–vascular problems of inflammatory origin
  • Inflammatory problems in chest and lungs
  • Problems with hearing and/or balance
  • Extreme exhaustion
  • Changes of personality, psychoses
  • Any other members of the family with a diagnosis of Behçet disease

Usually assigned when someone does not have mouth ulcers, or has mouth ulcers but does not have 1 of the 4 hallmark symptoms but has other symptoms and signs of inflammation, and other causes for these have been ruled out.

• The International Criteria for Behçet’s disease (ICBD) were developed in 2006 and require a total of at least three points for diagnosis of Behçet syndrome:^[4]
  • Genital aphthosis – 2 points
  • Ocular lesions (anterior uveitis, posterior uveitis, or retinal vasculitis) – 2 points
  • Oral aphthosis – 1 point
  • Skin lesions (pseudofolliculitis or erythema nodosum) – 1 point
  • Vascular lesions (superficial phlebitis, deep vein thrombosis, large vein thrombosis, arterial thrombosis, or aneurysm) – 1 point
  • Pathergy – 1 point
• Sensitivity of 87 to 96.5 percent and specificity of 88.9 to 97.3 percent^[4]

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