Behçet's disease: from Hippocrates to the third millennium.

Area of Science:

• Immunogenetics
• Rheumatology
• Vascular Medicine

Background:

• Behçet's disease (BD) is a multisystem inflammatory disorder characterized by orogenital ulcers, vasculitis, and thrombosis.
• An association between HLA-B51 and BD has been known for over two decades.
• Recent genetic studies have identified additional associations within and outside the MHC region.

Purpose of the Study:

• To review the genetic associations implicated in the immunological events underlying Behçet's disease.
• To explore the interplay between genetic predisposition and environmental triggers in BD pathogenesis.
• To discuss the implications of identified risk factors for prognosis and therapeutic interventions.

Main Methods:

• Review of existing literature on genetic associations in Behçet's disease.
• Analysis of identified gene variants, including HLA-B51, TNF, MIC, Factor V Leiden, and ICAM.
• Synthesis of evidence linking genetic factors, microbial triggers, and immune responses in BD.

Main Results:

• Allelic variants in the tumor necrosis factor gene region and MHC class I chain-related gene region are associated with BD.
• Factor V Leiden mutation is linked to retinal vascular occlusion in BD patients.
• Intercellular adhesion molecule gene alleles also show association with Behçet's disease.

Conclusions:

• No single causative gene for BD has been identified.
• The pathogenesis of BD likely involves immune events triggered by microbial antigens and influenced by host genetic factors controlling leukocyte behavior and coagulation.
• Understanding these genetic risk factors may improve prognostic accuracy and guide the development of targeted therapies.