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ESSENTIALS OF DIAGNOSIS

  • Recurrent oral and genital aphthous ulcers and bilateral posterior/panuveitis are the hallmarks of Behçet disease (BD). Other disease manifestations include pustular and nodular skin lesions, arthritis, thrombophlebitis affecting superficial and deep veins, arterial aneurysms, brainstem lesions, and gastrointestinal ulcers.

  • Although similar mucocutaneous lesions can be seen in other inflammatory conditions, the ocular, vascular, and neurologic manifestations have distinctive features.

  • A hyperinflammatory response to physical trauma such as hypodermic injections (the pathergy reaction) or to environmental triggers such as streptococcal antigens is a characteristic feature of the disease. Genetic polymorphisms contribute to this dysregulated immune response.

  • There are no pathognomonic laboratory and clinical features of BD. Thus, the recognition of a combination of manifestations that are distinctive in their collective presence is necessary to establish the diagnosis.

  • Treatment should be tailored to the patient’s individual disease features. Medications, such as colchicine, glucocorticoids, immunosuppressives, apremilast, and biologic agents, can be used both to control inflammatory flares and to prevent recurrences.

General Considerations

Behçet disease (BD) is a vasculitic disorder of unknown etiology characterized by inflammatory attacks that target a variety of tissues and organs in a distinctive manner. The condition was first described by Hulusi Behçet, a Turkish dermatologist, who recognized a systemic disease typified by the triad of recurrent oral and genital aphthous ulcers and uveitis. Subsequent investigations revealed that the inflammatory attacks affect joints, blood vessels, the central nervous system, and gastrointestinal tract. Some manifestations of BD are self-limited and heal without any scar, but others such as uveitis, deep vein thrombosis, arterial aneurysms, or parenchymal neurologic findings may cause damage resulting in substantial morbidity and mortality.

Epidemiology

BD has unique epidemiological features. Its prevalence is higher in Eastern Mediterranean countries and along the ancient Silk Road to China, Korea, and Japan, and substantially lower in the Northern Europe and Americas. This unique geographic distribution is accounted for primarily by the increased prevalence of HLA-B*51 in the areas where the disease is found commonly.

BD is seen almost equally in males and females, but severe manifestations of the disease are seen more frequently in male patients. A preference for female patients with less severe course was noted in western countries. BD starts more commonly in the third decade. Young age of onset (<25 years) has been associated with a more severe disease course.

Etiology & Pathogenesis

BD is a multifactorial disease with a significant contribution of genetic factors as well as environmental triggers. HLA-B*51 is the strongest genetic susceptibility factor identified to date. Recent studies have also revealed weaker but independent contributions of other HLA Class I antigens influencing the risk for BD. Some of these alleles enhance disease susceptibility (eg, B*15, B*27, B*57, A*26) but others are known to be protective against the expression of BD (eg, B*49, A*03). A certain ...

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