Behçet Syndrome

Behçet syndrome is a multisystem, chronic inflammatory disease that is usually characterized by oral ulcers, genital ulcers, uveitis with gastrointestinal, skin, and joint symptoms. It is categorized as a variable vessel vasculitis due to the high frequency of vasculitis in the disease (Jennette, Chapel Hill, 2013).

Diagnosis

Indications for Testing

Mucocutaneous ulcers associated with systemic symptoms

Criteria for Diagnosis

  • International Criteria for Behçet disease – scored by sign/symptom and points; four or more points is diagnostic (International Team for the Revision of the International Criteria for Behçet's Disease [ITR-ICBD], 2014)
    • Ocular lesions – two points
    • Genital aphthosis – two points
    • Oral aphthosis – two points
    • Skin lesions – one point
    • Neurological manifestations – one point
    • Vascular manifestations – one point
    • Positive pathergy test – one point
      • Optional test; the primary scoring system does not include pathergy testing, but if conducted, one extra point may be assigned for positive result

Laboratory Testing

  • Nonspecific testing
    • Some laboratory tests may be helpful in excluding other diseases
  • Other testing
    • Pathergy test – insertion of sterile needle intradermally
      • Positive test – demonstrates erythematous sterile papule within 48 hours
      • Refer to Criteria for Diagnosis for further discussion of pathergy testing

Differential Diagnosis 

Background

Epidemiology

  • Incidence – 1-2/100,000 in U.S.
  • Age – 20-40 years
    • Rare in children and individuals >50 years
  • Sex – M>F in Mediterranean populations; M<F in Asian and U.S. populations
    • Young males tend to have the most severe disease
  • Ethnicity – rare in the U.S.
    • Much higher incidence in Mediterranean and Middle Eastern populations

Genetics

  • HLA-B51 strongly associated with disease
    • Frequently expressed in individuals who live along the Silk Route (Mediterranean to Far East)
      • Association between HLA-B51 and Behçet syndrome not established outside of the Silk Route
    • Associated with severe disease manifestations, including posterior uveitis or progressive central nervous system (CNS) disease

Risk Factors

  • Genetics
    • HLA-B51
  • Environmental exposures

Pathophysiology

  • Vascular injury to arteries and veins of all sizes – exact cause unknown
    • Small vessel disease most common
    • Venous involvement may present as thromboembolic disease
    • Arterial aneurysms
  • Abnormal cellular immune responses and lymphocyte functions

Clinical Presentation

  • Disease severity varies
    • Middle Eastern countries – disease most severe in young men; severe uveitis common
    • U.S. – disease most severe in women; uveitis less common
  • Constitutional – fever, fatigue, malaise
  • Mucocutaneous – recurrent oral (aphthous ulcers) and genital ulcers (most common sign)
  • Musculoskeletal – peripheral arthritis, myositis, enthesitis
  • Neurologic – headache, confusion, strokes, personality changes, dementia (rare), aseptic meningitis, papilledema, dural sinus thrombosis, parenchymal brain disease
  • Dermatologic – erythema nodosum, papulopustular lesions, acneiform nodules, pathergy (rare in U.S.), superficial thrombophlebitis, leukocytoclastic vasculitis, pyoderma granulosum
  • Gastrointestinal – ulcers predominate in ileum and colon, emesis, diarrhea
  • Ophthalmologic – anterior/posterior uveitis (bilateral disease common), hypopyon, retinal scars
  • Otorhinologic – paranasal sinus disease
  • Bronchopulmonary – aneurysms of arteries in the lungs
  • Cardiac – pericarditis, myocarditis, valvular disease
  • Vascular – deep venous thrombosis, Budd-Chiari syndrome, arterial aneurysm

ARUP Laboratory Tests

Primary Test

Preferred first-line reflex panel for the evaluation of ANCA-associated vasculitis

Components: ANCA, IgG; myeloperoxidase antibody, and serine proteinase 3 antibody

Related Test

Preferred test to detect acute phase inflammation (eg, autoimmune diseases, connective tissue disease, rheumatoid arthritis, infection, or sepsis)

References

Additional Resources

Medical Experts

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