ABSTRACT
Sporadic cases of Behçet's disease in non-endemic regions pose a diagnostic challenge and may be confused with other more common chronic, relapsing multisystem disorders. The urate skin test, an exaggerated inflammatory reaction to intradermally injected monosodium urate crystals, may add a level of diagnostic specificity to a disease which otherwise lacks pathognomonic clinical features.
Los casos esporádicos de la enfermedad de Behçet en regiones no endémicas, plantean un desafío al diagnóstico y pueden ser confundidos con recidivas de otros trastornos multi-sistémicos crónicos más comunes. La prueba cutánea de ácido úrico - una reacción inflamatoria exagerada de cristales de urato monosódico inyectados intradérmicamente - puede elevar el nivel de especificidad diagnóstica en relación con una enfermedad que, por lo demás, carece de características clínicas patognomónicas.
Subject(s)
Adult , Humans , Male , Middle Aged , Behcet Syndrome/diagnosis , Skin Tests , Uric Acid , Barbados , Behcet Syndrome/ethnology , Oral Ulcer/etiology , Severity of Illness IndexABSTRACT
Intercellular adhesion molecule-1 (ICAM-1) is expressed on vascular endothelial cells and its expression increases during the inflammatory response in patients with active Behcet's disease (BD). The ICAM1 gene mutations are associated with BD in Caucasians, but clinical features of the mutation phenotype are unknown. We analyzed ICAM1 polymorphisms in Korean BD patients to determine if there was an association between particular mutations and clinical symptoms. The prevalence of ICAM1R241G and ICAM1K469E polymorphisms was determined among 197 patients with BD and 248 healthy controls using BsrG1 and BstU1 PCR-RFLP. The frequency of both genotypes ICAM1469 * K/ * E and ICAM-1469 * E/ * E was significantly higher in BD patients compared with controls (66.0% vs 52.4%, p=0.004, OR=1.28, 95% CI 1.08-1.50) and the allele frequency of ICAM1469 * E was higher in patients with skin lesions (0.41), genital ulcers (0.41), vasculitis (0.43), ocular lesions (0.41) and arthritis (0.39) than in controls (0.31). Only one heterozygote, ICAM1241G/R, was detected in BD patients but the ICAM1241 * R mutation was not found in any of the 248 healthy controls. These results show that the ICAM1 mutation is associated with BD susceptibility, and is another genetic risk factor for BD among the Korean population.