Behçet's Syndrome Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy Epidemiology: • Young adults 20 to 40 years of age • Most common in Asia • HLA-B51 association • M > F Clinical Manifestations: • Oral Ulcerations: Recurrent oral aphthous ulcerations (painful) • Urogenital Lesions (75% or more): Genital ulceration • Ocular Disease (25-75%): Inflammatory eye disease (panuveitis, retinal vasculitis) • Cutaneous Lesions (75%): acneiform lesions, erythema nodosum (septal panniculitis), superficial thrombophlebitis, pyoderma gangrenosum like lesions, pyoderma gangrenosum like lesions, erythema multiforme-like lesions, palpable purpura, Pathergy (an inflamed response to local skin injury) • Neurologic Disease: Lesions in the corticospinal tract, brainstem, periventricular white matter, spinal cord, and basal ganglia, CNS (brainstem lesions, aseptic meningitis), MCC CNS symptoms (headache and diplopia) • Vascular Disease: Arterial (MCC-small vessel vasculitis. Medium and large also involved), Venous disease (SVC/IVC occlusion, Budd-Chiari syndrome, dural sinus thrombosis, VTE) • Cardiac Disease: Pericarditis, myocarditis, coronary arteritis +/- myocardial infarction, coronary artery aneurysms Diagnosis: No pathognomonic laboratory tests in Behcet syndrome (Clinical Dx). At least three episodes of recurrent oral ulcers in 12 months plus at least two more of the following: • Genital ulcers • Eye involvement (uveitis or retinal damage) • Skin lesions • Positive pathergy test (this is a skin prick test that can confirm Behcet disease) Differential Diagnosis: • Genital ulcerations • Oral aphthae : SLE, Reactive arthritis,ervical adenopathy (PFAPA) syndrome, hyperimmunoglobulin D syndrome, and A20 haploinsufficiency (HA20) • Gastrointestinal : Crohn disease, ulcerative colitis, spondyloarthritis • Ocular: Giant retinal tears, Ischemia, Leukemia, Lymphoma Ocular melanoma • Arthritis: SLE, Reactive Arthritis, AS Treatment: • Oral and genital ulcers-Topical glucocorticoids • Recurrent mucocutaneous lesions-Colchicine • Recurrent and chronic arthritis-Azathioprine, interferon alfa, or tumor necrosis factor CTNF)-a inhibitors • Uveitis- Ophthalmology collaboration • CNS exacerbations: high-dose glucocorticoids and azathioprine • Severe or refractory disease : monoclonal TNF-aIpha inhibitor + oral DMARD • Nonsurgical abdominal pain: Glucocorticoids 5-ASA or azathioprine #Behcet #Syndrome #diagnosis #management #signs #symptoms #rheumatology #disease
