Behcet’s disease is a systemic inflammatory vasculitis, characterised by a course of remissions and relapse of oral ulcers, genital ulcers, skin lesions and ocular lesions. It can affect the arteries and veins of almost any system and has been shown to involve the gastrointestinal and neurological systems. It was first described by the Turkish dermatologist Dr Behcet in the 1930 and is endemic in Turkey and other parts of the old ‘Silk Route’ through Europe and Asia. The cause of Behcet’s is unknown but it is believed to be triggered by an infectious or environmental agent in a genetically predisposed individual. The most generally accepted theory is that the pathogen derived antigen ‘Heat Shock Protein 65 (HSP65)’, which has a high sequence homology with the human HSP60 results in cross-reactivity which leads to an autoimmune response.
The HLA class I molecule HLA-B51 is the most strongly associated risk factor and has been shown to be associated with Behcet’s in Turkish and Asian patients though the association in Caucasian patients is much weaker. This has lead to the search for other genes which may be the true disease markers. One study has found a potential association with HLA-B*57:01. Other MHC genes which may be involved include MICA, though this is in linkage disequilibrium with HLA-B51 and the TNF genes. Non MHC genetic systems which have been proposed to be involved in Behcet’s include the interleukin-1 (IL-1) gene and mutations in the Mediterranean fever gene (MEFV).
Testing for HLA-B51 is a useful, though not a diagnostic tool for Behcet’s as the vast majority of HLA-B51 carriers do not develop Behcet’s. Diagnosis is instead based on the recurrence of symptoms including oral ulcers, genital ulcers, skin lesions and ocular lesions. Treatment options depend on organs involved. Available treatments include corticosteroids, azathioprine, cyclophosphamide, cyclosporine A and anti-TNF agents.
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