DIAGNOSTIC CRITERIA

Many different criteria are used for diagnosis of Behçet syndrome, but the International Study Group criteria are the most used. Recurrent oral ulcers are required along with two other manifestations, including recurrent genital ulceration, eye lesions, skin lesions, and a positive pathergy test.

Mucocutaneous Manifestations. Mucocutaneous manifestations among Behçet syndrome are common. Almost all patients will have oral ulcers frequently as the first symptom of disease. These ulcers are painful and may come in crops. Genital ulcers are less common and may occur only once during the disease course. In males, ulcers tend to occur on the scrotum and less frequently on the glans or shaft. In females, lesions involve both the major and minor labia, usually healing in a period of 2 to 4 weeks. Infectious causes of genital ulcers, such as herpes simplex infections, chancroid, syphilis, granuloma inguinale, and lymphogranuloma venereum, should be ruled out. Other mucocutaneous manifestations of Behçet syndrome include acne-like lesions, papulopustular lesions, and nodular lesions occurring in 80% of patients. Pathergy is an inflammatory reaction manifested by a papule or pustule that forms within 48 hours after intradermal injection of the skin with a 20-gauge needle. A positive pathergy test can be used to aid diagnosis; however, it is less frequently seen in the United States compared with the Mediterranean and Middle East area (see Plate 5-62). Medications effective in the treatment of oral and genital ulcers include azathioprine, etanercept, INF-α_2a, dapsone, thalidomide, and colchicine.

Ocular Manifestations. Eye manifestations are estimated to occur in 35% to 70% of patients as anterior or posterior uveitis. Males and young patients tend to have more severe disease. Delays in treatment can result in worse outcomes, including vision loss. Anterior uveitis with intense inflammation can cause hypopyon formation (see Plate 5-61) and be associated with retinal vasculitis. Isolated anterior uveitis is rare. Retinal involvement can be severe, leading to retinal exudate, hemorrhages, venous thrombosis, papilledema, and macular disease. Glucocorticoids should be used initially to quickly decrease inflammation. Both azathioprine and infliximab have been shown to be effective at preventing relapses and maintaining visual acuity. Cyclosporine in combination with colchicine and INF-α alone have also been used with success. Because of increased awareness and more aggressive treatment, visual loss has decreased from 75% to 20% in this population.

Musculoskeletal Manifestations. Musculoskeletal manifestations include arthritis in 30% to 80% of patients. Arthritis is generally monarticular or oligoarticular and most commonly affects the knees, ankles, and wrists. The arthritis is nondeforming and nonerosive. Synovial fluid analysis during an attack is usually inflammatory. Most patients will respond to colchicine.

Vascular Manifestations. Vascular manifestations carry a poor prognosis. Vascular involvement is less common in the United States than in other parts of the world. It is estimated that 5% to 30% of patients have vascular involvement. What is peculiar about Behçet syndrome is that it is a vasculitis that can affect either veins or arteries of any size. Most common vascular involvement includes thrombophlebitis of either deep or superficial veins. Other manifestations include vena cava thrombosis and occlusion of the suprahepatic veins, leading to Budd-Chiari syndrome. It is generally accepted that acute deep vein thrombosis should be treated with immunosuppressive agents such as azathioprine, cyclophosphamide, or glucocorticoids. Thromboembolisms are rare, likely secondary to tight adherence of the thrombosis to the vessel wall; therefore, treatment with anticoagulation is controversial, with most centers advocating for the addition of anticoagulation on top of immunosuppression. Arterial involvement is less frequent (<5%). Any part of the arterial tree can be affected, but most common involvement includes peripheral artery aneurysms. Caution should be used when performing invasive vascular procedures because they place patients at higher risk for pseudoaneurysm development at the puncture site. Insertion of venous catheters may also initiate or aggravate an already developed thrombosis in the peripheral veins.