Behçet disease was initially described as a triad of oral ulcers, genital ulcers, and uveitis with hypopyon. It is now recognized as a multisystem vasculitis of unknown etiology that can affect arterial and venous vessels of any size. The disease is most common in the Middle East and Asia, affects males more often than females, and usually has its onset during the third or fourth decade of life.
Signs and symptoms Oral ulcers are the most common clinical feature, affecting over 95% of patients. Genital ulcers and skin involvement each occur in about 75% of cases. Skin disease can include erythema nodosum (see Fig 9-3), superficial thrombophlebitis, pyoderma, and pathergy (pustular response to skin injury). Approximately half of patients have asymmetric, nondeforming arthritis that commonly affects the knees, wrists, and ankles.
Vascular disease can present as migratory superficial thrombophlebitis, major-vessel thrombosis, arterial aneurysms, or even peripheral gangrene. CNS disease is found in 20% of patients and includes brainstem syndrome, meningoencephalitis, and confusional states. The major causes of mortality are from CNS involvement and large-vessel disease, including arterial aneurysm.
Diagnosis Behçet disease may be associated with a number of nonspecific laboratory abnormalities, including elevated ESR, CRP, and circulating immune complexes. Patients may also have serologic evidence of a hypercoagulable state, and the prevalence of HLA-B51 is higher than among unaffected individuals. However, no specific laboratory tests are pathognomonic for this disease. The diagnosis is based on clinical criteria that include oral ulcers and any 2 of the following: uveitis, genital ulcers, skin involvement, and pathergy. Other criteria may be used, depending on regional differences in disease presentation.
Treatment Management varies according to disease severity and organ systems involved. Patients with mild disease may benefit from colchicine for treatment of arthritis and ulcers. Oral and genital lesions may respond to topical steroid solutions or require systemic therapy if severe. The use of corticosteroids alone may control acute exacerbations but does not seem to alter disease outcome. As a result, 1 or more immunosuppressive agents are usually added as therapy. Interferon-alfa has also been effective, especially for mucocutaneous manifestations. Treatment of posterior uveitis typically begins with azathioprine and steroids. Alkylating agents such as cyclophosphamide may be used in refractory cases, although these drugs may have significant toxicity. Tumor necrosis factor (TNF)-α inhibitors may also be helpful.
Zeidan MJ, Saadoun D, Garrido M, Klatzmann D, Six A, Cacoub P. Behçet’s disease physiopathology: a contemporary review. Auto Immun Highlights. 2016;7(1):4.
Cogan syndrome is an immune-mediated disorder that affects young adults and is characterized by inflammatory lesions of the eye and inner ear. Patients may present with nonspecific symptoms such as fatigue, fever, and weight loss. Medium- or large-vessel vasculitis, including aortitis, occurs in 10% of cases. Ophthalmic findings may include uveitis, interstitial keratitis, and scleritis. Dizziness and hearing problems may reflect inner ear disease such as vestibular dysfunction and sensorineural hearing loss, respectively. Recurrent untreated inflammation may lead to blindness and deafness. Patients are commonly treated with oral corticosteroids and other immunosuppressive medications, including methotrexate and azathioprine. See BCSC Section 8, External Disease and Cornea, for further discussion.
Excerpted from BCSC 2020-2021 series: Section 1 - Update on General Medicine. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.