High Incidence of Gastrointestinal Ulceration and Cytogenetic Aberration of Trisomy 8 as Typical Features of Behçet’s Disease Associated with Myelodysplastic Syndrome: A Series of 16 Consecutive Chinese Patients from the Shanghai Behçet’s Disease Database and Comparison with the Literature

Yan, Siyu; Ma, Hui; Luo, Dong-Hua; Cai, Juan; Zou, Jun; Guan, Jian-Long

doi:10.1155/2018/8535091

Cited by 27 publications

(25 citation statements)

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“…Previously, we found BS patients could concurrently associate with myelodysplastic syndrome (MDS) [ 31 ]. Accordingly, exclusion criteria included malignancies (except for MDS), infectious diseases, or other inflammatory rheumatic disorders.…”

Section: Methodsmentioning

confidence: 99%

Cluster analysis of phenotypes of patients with Behçet’s syndrome: a large cohort study from a referral center in China

et al. 2021

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Introduction Behcet’s syndrome (BS) is a complex, heterogeneous disorder. However, classification of its subgroups is still debated. The purpose of this study was to investigate the clinical features and aggregation of patients with BS in China, based on manifestations and organ involvements. Methods This was a cross-sectional study of BS patients in Huadong Hospital of Fudan University between September 2012 and January 2020. We calculated relative risks (RRs) of clinical variables according to sex. Moreover, we conducted a hierarchical cluster analysis applied according to eighteen variables to determine subgroups of patients. Results A total of 860 BS patients were included. Male sex was associated with ocular involvement (RR 2.32, 95% CI 1.67, 3.22, P < 0.0001), vascular involvement (RR 2.00, 95% CI 1.23, 3.23, P = 0.004), cardiac lesion (RR 5.46, 95% CI 2.33, 12.77, P < 0.0001), and central nervous system involvement (RR 2.95, 95% CI 1.07, 6.78, P = 0.007) and was negatively associated with genital ulcers (RR 0.84, 95% CI 0.79, 0.91, P < 0.0001). Five clusters (C1–C5) were observed. C1 (n = 307) showed the skin and mucosa type. In C2 (n = 124), all had articular involvement, barely having major organ involvement except for 18 cases with intestinal lesions. In C3 (n = 156), the gastrointestinal type, 144 patients presented with intestinal involvement, and 36 patients with esophageal ulcers. In C4 (n = 142), all subjects presented with uveitis. C5 (n = 131) consisted of 44 patients with cardiac lesions, 58 with vascular involvement, and 26 cases having central nervous system involvement. Conclusion Our analysis confirmed sex differences in phenotypes of BS. Cluster analysis identified gastrointestinal, uveitis, and cardiovascular involvement cluster separately in different subsets, which represents the most commonly involved organs. Further research is required to replicate and clarify the patterns of phenotype in BS.

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Section: Methodsmentioning

confidence: 99%

Cluster analysis of phenotypes of patients with Behçet’s syndrome: a large cohort study from a referral center in China

et al. 2021

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“…From our cohort, we identi ed six patients with myelodysplastic syndrome presenting as a Behçet's like disease, three patients were at late-onset age. Previously, we compared the clinical features between BS and MDS associated with Behçet mimic [25]. MDS was related to late-onset of age, intestinal ulceration and trisomy 8.…”

Section: Discussionmentioning

confidence: 99%

Phenotype heterogeneity in Late-onset Behçet’s syndrome: A cohort from a referral center in China

Zou¹,

Luo²,

Luo³

et al. 2020

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Objectives To elaluate the demographic, clinical and major organ involvement of patients with late-onset Behçet’s syndrome (BS) in a tertiary centre in China.Methods It was a cross-sectional study of consecutive BS patients in Huadong Hospital of Fudan University between September 2012 and January 2020, we identified 152 late-onset BS patients diagnosed after age of 40 years. We compared clinical variables between patients with disease onset age before and after 40 years. The relative risks (RRs) of clinical variables were calculated between two age groups. Moreover, a hierarchical cluster analysis was conducted according to twenty-nine variables to determine homogeneous subgroups of patients.Results Late-onset BS patients had a higher incidence of intestinal ulcer (late-onset : early-onset, RR 1.47), but a lower incidence of ocular involvement (RR 0.54) and folliculitis (RR 0.46). Female was associated with genital ulcer, erythema nodosum, and arthritis. Four clusters (C1–C4) were formed. C1 (n = 71) the largest cluster, defined as mucocutaneous group. C2 (n = 20), the arthritis group, C3 (n = 39), the gastrointestinal type, all patients presented with intestinal lesion, and five cases with esophageal ulcer. In C4 (n = 22), showing a mixture of uveitis and vascular group, fifteen patients presented with uveitis and eight had vascular lesion, and one cases had central nervous system lesions.Conclusion This is the first cluster analysis to be carried out in a cohort of late-onset BS patients in China. The significantly lower prevalence of folliculitis in late onset BS and the overall milder disease course suggest that testosterone status may influence disease activity.

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“…A relationship has also been reported between BD-like diseases and myelodysplastic syndrome (MDS) with trisomy 8 [ 29 ]. It was reported that patients with BD and MDS experience more fever episodes and intestinal lesions than patients with BD without MDS, and trisomy 8 was found to be common (81.3%) in patients with BD and MDS [ 30 ]. Thus, it has recently been named trisomy 8-associated autoinflammatory disease (TRIAD) [ 48 ].…”

Section: Other Genesmentioning

confidence: 99%

Primary Immunodeficiency Disease Mimicking Pediatric Bechet’s Disease

Shiraki

Kadowaki

et al. 2021

Children

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Behcet’s disease (BD) is a chronic inflammatory disease with multisystemic involvement. Its etiology is considered to involve complex environmental and genetic factors. Several susceptibility genes for BD, such as human leukocyte antigen (HLA)-A26, IL23R-IL12RB2, IL10 and ERAP1, in addition to the well-studied HLA-B51, were mainly identified by genome-wide association studies. A heterozygous mutation in TNFAIP3, which leads to A20 haploinsufficiency, was found to cause an early-onset autoinflammatory disease resembling BD in 2016. Several monogenic diseases associated with primary immunodeficiency disease and trisomy 8 have recently been reported to display BD-like phenotypes. Among the genes causing these diseases, TNFAIP3, NEMO, RELA, NFKB1 and TNFRSF1A are involved in the NF-κB (nuclear factor κ light-chain enhancer of activated B cells) signaling pathway, indicating that this pathway plays an important role in the pathogenesis of BD. Because appropriate treatment may vary depending on the disease, analyzing the genetic background of patients with such diseases is expected to help elucidate the etiology of pediatric BD and assist with its treatment. Here, we summarize recently emerging knowledge about genetic predisposition to BD.

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High Incidence of Gastrointestinal Ulceration and Cytogenetic Aberration of Trisomy 8 as Typical Features of Behçet’s Disease Associated with Myelodysplastic Syndrome: A Series of 16 Consecutive Chinese Patients from the Shanghai Behçet’s Disease Database and Comparison with the Literature

Cited by 27 publications

References 45 publications

Cluster analysis of phenotypes of patients with Behçet’s syndrome: a large cohort study from a referral center in China

Cluster analysis of phenotypes of patients with Behçet’s syndrome: a large cohort study from a referral center in China

Phenotype heterogeneity in Late-onset Behçet’s syndrome: A cohort from a referral center in China

Primary Immunodeficiency Disease Mimicking Pediatric Bechet’s Disease

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