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).

Quick Answers for Clinicians

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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 reflex panel for managing patients with a known diagnosis of vasculitis; may be assistive in evaluating suspected vasculitis

For the workup of suspected vasculitis, the preferred panel is ANCA-associated vasculitis profile (ANCA/MPO/PR3) with reflex to ANCA titer

Panel includes ANCA, IgG; myeloperoxidase antibody, and serine proteinase 3 antibody

Related Tests

May help in ruling out infectious process

Screen for various metabolic and kidney disorders

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

Nonspecific test used to detect inflammation associated with infections, cancers, and autoimmune diseases

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