A rare case of Behcet's disease associated with myelodysplastic syndrome (MDS) is described. A 50-year-old Korean female suffering recurrent oral ulcer, genital ulcer, fatigue, arthralgia in both knees and fever was diagnosed as Behcet's disease. The findings of bone marrow aspirates were consistent with refractory anemia, a subtype of myelodysplastic syndrome. Chromosomal analysis of bone marrow cells revealed 46,XX,-8,-20,+der(8)t(8;20)(p23;p10),+der(8) t(8;20)(p23;q10)[30]. The chromosomal changes found in this patient were different from those of previous reports, which mostly revealed trisomy 8. If anemia, low reticulocyte count and dyspoietic cells are sustained in Behcet's disease, physicians should be alert to the possibility of MDS with aberration in chromosome 8 and perform a bone marrow study for the proper diagnosis and treatment of the disease. We presented a case of Behcet's disease associated with MDS, which is the first Korean case.
Anemia/genetics ; Behcet's Syndrome/genetics* ; Behcet's Syndrome/diagnosis ; Bone Marrow Cells/ultrastructure ; Bone Marrow Cells/pathology ; Case Report ; Chromosome Aberrations ; Female ; Histocytochemistry ; Human ; Korea ; Middle Age ; Myelodysplastic Syndromes/genetics*

High-mobility group box 1 (HMGB1) protein has been demonstrated to play an important role in chronic inflammatory diseases including rheumatoid arthritis, and systemic lupus erythematosus. This study investigated the association between extracellular HMGB1 expression and disease activity, and clinical features of Behcet's disease (BD). Extracellular HMGB1 expression in the sera of 42 BD patients was measured and was compared to that of 22 age- and sex-matched healthy controls. HMGB1 expression was significantly increased in BD patients compared to healthy controls (78.70 +/- 20.22 vs 10.79 +/- 1.90 ng/mL, P = 0.002). In addition, HMGB1 expression was significantly elevated in BD patients with intestinal involvement compared to those without (179.61 +/- 67.95 vs 61.89 +/- 19.81 ng/mL, P = 0.04). No significant association was observed between HMGB1 concentration and other clinical manifestations, or disease activity. It is suggested that extracellular HMGB1 may play an important role in the pathogenesis of BD.
Adult ; Aged ; Behcet Syndrome/genetics/*metabolism/pathology ; Extracellular Space/metabolism ; Female ; HMGB1 Protein/genetics/*metabolism ; Humans ; Inflammation ; Intestinal Diseases/blood/genetics ; Male ; Middle Aged ; Young Adult

Although the etiology of Behcet's Disease (BD; MIM 109650) remains to be clearly elucidated, levels of tumor necrosis factor alpha (TNF-alpha) have been reported to be significantly elevated in BD patients, and TNF-alpha blockers have been demonstrated to exhibit some degree of therapeutic efficacy for a certain subset of BD sufferers. In this study, we have conducted an analysis of the TNFA haplotypes in the promoter response element that affect the binding affinity of specific transcription factors, in order to characterize their association with the clinical features of BD. Six polymorphisms in the promoter region of TNFA were genotyped in 254 BD patients and 344 control subjects, via the PCR-RFLP technique. TNFA -1031*C, -863*A and -308*G alleles were associated with an increased risk of BD (p=0.030, OR=1.4; p=0.008, OR=1.5; p=0.010, OR=1.8, respectively). The sole TNFA haplotype -1031C-863A-857C-376G-308G-238G, was associated with a 1.6 fold increase in the risk of BD, whereas the TNFA haplotype -1031T-863C-857C-376G-308A-238G was associated with a 0.6 decreased risk of BD. The TNFA -1031*C, -863*A, -857*C and -308*G alleles were significantly associated with BD. The findings of this study, collectively, indicate that TNFA haplotypes in the promoter response elements may exert significant influence on susceptibility to BD.
Tumor Necrosis Factor-alpha/*genetics ; Promoter Regions (Genetics)/*genetics ; Polymorphism, Single Nucleotide/genetics ; Odds Ratio ; Middle Aged ; Male ; Linkage Disequilibrium ; Humans ; Haplotypes/*genetics ; Genotype ; Genetic Predisposition to Disease/genetics ; Gene Frequency ; Female ; Behcet Syndrome/*genetics/pathology ; Aged ; Adult ; Adolescent

Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There were only several reports about Behcet's disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcet's disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcet's disease and a review of the literatures. To the authors' knowledge, this is the first case ever reported in Korea.
Adult ; Anemia, Aplastic/complications/*diagnosis ; Behcet Syndrome/complications/*diagnosis/genetics ; Bone Marrow/pathology ; Chromosomes, Human, Pair 8 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Intestinal Diseases/complications/*diagnosis/genetics ; Karyotyping ; Tomography, X-Ray Computed ; *Trisomy