Behcet’s disease [28 genes]

Behcet’s disease (BD) is a chronic inflammatory disease characterized by typical manifestations that include uveitis, refractory genital and oral ulcers, dermal lesions and other alterations that affect the intestinal tract, CNS, vascular, joints, kidneys and lungs. A positive family history has been found in more than 30% of BD cases. Although an association between EB and HLA-B haplotypes has been described, this has only been revealed in less than 20% of cases, suggesting the existence of other genetic factors involved. In addition to the existence of predisposing genetic factors, monogenic forms associated with genes such as TNFAIP3, NLRP3, NLRC4, NOD2 or MEFV have been described, taking the nickname behcet-like phenotype due to the overlap with typical BD symptoms. Genetic factors associated with BD would affect the production of IFN, IL-7, TNF, inflammasome formation, and other proinflammatory pathways.

• 1-10/100,000
• ~1/1,000 (Turkish population)

• Diagnosis and genetic counseling
• Anti-inflammatories
• Immunomodulators

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

In those patients who meet the diagnostic criteria for Behcet’s disease or suspect an autoinflammatory disease with BD overlap, the genetic study allows to rule out the genetic cause in the main Behcet-like genes.

Diagnostic criteria for Behcet’s disease:

• Oral ulcers
• Genital ulcers
• Uveitis
• Skin lesions
• Vasculitis
• CNS disorders
• Arthritis
• Elevated levels of circulating proinflammatory cytokines