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The New England Journal of MedicineBehçet’s Syndrome

Deciphering Behçet’s Syndrome: Advances in Genetic Insights and Therapeutic Approaches

In the comprehensive review of Behçet’s syndrome, a chronic, multisystem inflammatory condition characterized by a relapsing-remitting course, significant strides have been made in understanding its epidemiology, pathogenesis, clinical manifestations, and treatment strategies. This article highlights the latest advancements in genetic research and targeted therapeutic interventions that are reshaping the management of Behçet’s syndrome, underscoring the importance of a multidisciplinary approach in optimizing patient outcomes. With an emphasis on the syndrome’s classification as a primary systemic vasculitis and the identification of key genetic factors through advanced techniques, the review provides valuable insights into the complex interplay between genetic predisposition and environmental triggers, the autoimmune and autoinflammatory features of the syndrome, and the evolving landscape of treatment options.

Key Points:

  • Behçet’s syndrome is classified as a primary systemic vasculitis, affecting veins and arteries of any size, with an emphasis on its autoimmune and autoinflammatory characteristics.
  • Epidemiologically, the syndrome shows a high prevalence along the ancient Silk Road, particularly in Turkey, with a noted familial aggregation and a significant variation according to geographic location and ethnic group.
  • Genetic studies have identified associations with HLA-B*51, along with other genetic factors such as ERAP1 and genes related to Th1 and Th17 cell polarization, highlighting the syndrome’s complex genetic underpinnings.
  • Environmental triggers like microorganisms, dietary factors, and stress, coupled with alterations in gut and salivary mucosal flora, contribute to the pathogenesis by activating inflammatory pathways.
  • Clinical manifestations are diverse, affecting skin, mucosa, joints, eyes, vascular system, central nervous system, and gastrointestinal tract, with disease activity and severity varying by age, sex, and ethnic background.
  • The diagnosis of Behçet’s syndrome is largely clinical, with the International Study Group criteria being commonly used, alongside imaging findings for differential diagnosis.
  • Treatment strategies are individualized and multidisciplinary, aiming at controlling inflammation to prevent relapses and irreversible organ damage, with emerging therapies showing promise in managing refractory cases.
  • The role of immunosuppressive therapy, including biologic agents like TNF inhibitors and interleukin inhibitors, is emphasized in managing major organ involvement and severe disease manifestations.

In findings from 1997, researchers revealed that Behçet’s disease may be induced or exacerbated through a novel multistep molecular mimicry mechanism, where bacterial antigens activate autoreactive T cells, previously sensitized by self-peptides of HSP, highlighting its autoimmune nature.

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