Background Behcet Disease Research Articles

HLA-B*51:01 in Iranian patients with Behcet uveitis syndrome

BackgroundBehcet's disease (BD) is a multisystem disorder prevalent along the historic Silk Road, with Behcet's uveitis (BU) representing a significant complication contributing to disability. Various studies have linked different HLA alleles with BD across diverse populations. MethodsIn this study, we investigated the association between HLA-B51:01/x and HLA-B27/x genotypes with Behcet's uveitis in 50 unrelated Iranian patients diagnosed with Behcet's uveitis, comparing them to a control group of 70 healthy individuals. Our analysis aimed to determine the susceptibility conferred by these alleles and assess their clinical relevance. ResultsOur findings indicate a notable susceptibility conferred by the HLA-B51:01/x genotype for Behcet's uveitis (P=0.0001). Conversely, the B27/x genotype did not demonstrate significant associations with Behcet's uveitis. Furthermore, we employed prevalence-corrected positive predictive value (PcPPV) calculations to gauge the clinical utility of testing for these alleles within the Iranian Behcet's uveitis patient population. The PcPPV for B27/x genotype testing was determined to be 0.05%, while the PcPPV for B51:01/x genotype testing in the same population was 0.065%. These results suggest that carriers of the B*51:01 allele, when presenting with clinical symptoms, exhibit a heightened risk for Behcet's uveitis compared to the general population. ConclusionIndividuals carrying the B51:01 allele, when symptomatic, face an elevated Behcet's uveitis risk. This insight aids in targeted clinical assessments for at-risk populations.

Neuro-Behcet's Masquerading as Status Epilepticus and Meningoencephalitis in the Emergency Department

BackgroundBehcet disease (BD) is a rare small vessel vasculitis that commonly manifests as recurrent painful oral or genital ulcerations, uveitis, and skin lesions. Some patients with BD develop neurological symptoms termed neuro-Behcet's disease. In the emergency department (ED) setting, these symptoms can be mistaken for other common acute issues including stroke, infection, epilepsy, multiple sclerosis, toxin ingestion, or psychiatric conditions. Case ReportWe present a case of a 28-year-old male with neuro-Behcet disease mimicking status epilepticus and meningoencephalitis. He was actively seizing on arrival and febrile at 103.8 F. The patient also had a history of vasculitis, uveitis and genital lesions which raised suspicion for a rheumatological process. Cerebrospinal fluid (CSF) samples were obtained and computed tomography (CT) of the head revealed no acute findings. The patient was started on treatment for seizure and meningoencephalitis and admitted to neurology for continuous electroencephalogram (EEG) monitoring with additional consults placed for rheumatology, ophthalmology, and infectious disease. The patient was ultimately diagnosed with neuro-Behcet's disease and treated appropriately.Why should an emergency physician be aware of this?: In a patient presenting with neurological symptoms and signs of rheumatological disease providers should consider neuro-Behcet's disease as a differential diagnosis. This case exemplifies the vital role of reviewing past medical history to expand differential diagnoses and early coordination with specialists so treatment can be initiated early to prevent morbidity and mortality. The case will also review different presentations of this unfamiliar diagnosis for a more comprehensive understanding.

Fetal cardiac functional changes in pregnancies with Behcet's disease: A case-control study

BackgroundBehcet's disease usually progresses with remission during pregnancy, but early subtle changes might be detected in the heart of these fetuses due to inflammation. AimsWe aimed to evaluate the cardiac functions in fetuses of pregnant women with Behcet's disease (BD). Study designProspective case-control study. SubjectsThis prospective study enrolled pregnant women diagnosed with Behcet's disease before pregnancy. Twenty-four pregnancies with Behcet's disease and 48 healthy pregnancies were included at 32–34 gestational weeks. Outcome measuresPulsed-wave Doppler and tissue Doppler imaging (TDI) were used to assess cardiac functions. ResultsRight ventricle (RV) E (early) wave and left ventricle (LV) E were significantly increased in pregnancies with BD (p = .008, p = .041, respectively). Decreased right ventricle E' (peak systolic velocity) was detected with TDI in the case group (6.2 ± 0.5, p < .001). E/E' ratios for RV and LV were significantly increased in the case group (p < .001, p = .001, respectively). The correlation between the duration of the disease and fetal cardiac functions was also evaluated. For RV, E (r = 0.735, p < .001), E' (r = −0.735, p < .001), E/E' (r = 0.894, p < .001), were strongly correlated with the disease duration. The study also showed the correlation between disease duration and LV E' (r = −0.735, p = .005), LV E (r = 0.750, p < .001), and LV E/E' (r = 0.820, p < .001). ConclusionThis is the first study to evaluate the fetal cardiac functions in fetuses of pregnancies with BD. Although BD usually progresses with remission during pregnancy, early subclinical diastolic changes might occur in the heart of these fetuses due to inflammation.

Osteonecrosis as a rare musculoskeletal complication in Behcet’s disease- the largest case series with literature review

BackgroundBehcet disease (BD) as a variable vessel vasculitis is mainly characterized by ocular involvement, genital and oral aphthosis, and erythema nodosum. However, major organ involvements including gastrointestinal involvement, nervous system, and vascular involvement are among the severe complications. Osteonecrosis is a rare complication of patients with BD. We aim to report the largest series of BD patients suffering from osteonecrosis.MethodsWe have retrospectively reviewed all patients in Iran Behcet’s Disease Registry and reported those with osteonecrosis. Patients’ medication and clinical features, symptoms, and details of osteonecrosis will also be presented. Furthermore, previously reported cases will also be reviewed.ResultsSeven thousand eight hundred thirty-one patients were diagnosed with BD and registered. 18 patients developed ON with an incidence of 0.22%. The most common involvement during the disease progression was oral aphthosis which appeared in 100% of patients followed by ocular involvement in 85.7% and skin involvement in 71.4%. Vascular, ocular, and nervous system involvements are significantly higher in BD patients with osteonecrosis than the other BD patients. For the management of acute episode of uveitis, deep vein thrombosis, severe gastrointestinal involvement, arterial involvement, nervous system Involvement, and joint involvement high dose of glucocorticoids is indicated.ConclusionsON tends to appear as a multifocal involvement in BD patients, hence, after diagnosis of ON in one joint other possible sites of ON should be investigated.

Recurrent aortic-arch pseudoaneurysm eroding into the left main bronchus following descending thoracic aortic stent repair

BackgroundBehcet's disease is a form of systematic vasculitis that affects vessels of various sizes anywhere in the body. Aortic pseudoaneurysm is the most hazardous lesion in Behcet's disease and is associated with high mortality rate once rupture.Case presentationIn this report, we presented a patient with a known history of Behcet's disease, whose recurrent aortic-arch pseudoaneurysm eroding into the left main bronchus was identified after a 4-year duration of thoracic endovascular aortic repair for thoracic descending aortic pseudoaneurysm ruptured into the left lung. Repeated thoracic endovascular aortic repair combined with the chimney stent effectively controlled massive hemoptysis under the life-threatening circumstance, and the patient was in good condition at the 7-year follow-up.ConclusionsThoracic endovascular aortic repair can be used as an effective and problem-solving treatment approach for thoracic aortic aneurysms eroded into the lung, even recurrent pseudoaneurysm after thoracic endovascular aortic repair in BD patients. Among the imaging methods assessing the technical success, outcome and complications, computed tomography angiography offers a fast, accessible and sensitive imaging modality.

Quality of Life in Patients With Behçet Disease and Its Relation With Clinical Symptoms and Disease Activity.

Behçet's disease(BD) is a systemic vasculitis which may affect the quality of life (QoL). This study aimed to assess the QoL in Iranian Azeri BD patients as well as evaluating the association between QoL and disease characteristics including disease activity and clinical symptoms. In this cross-sectional study, a total of 123 BD patients aged 15-65 years fulfilling International Criteria for BD and 123 healthy controls matched with regard to gender were included. Patients aged 15-18 years had the informed consent and consent of their parents for participation. Short Form-36 Quality of Life Scale (SF-36) was used to evaluate QoL. Disease activity was measured by Behcet's Disease Current Activity Form and the Iranian Behcet's Disease Dynamic Activity Measure and Vasculitis Damage Index (VDI) was used for the clinical assessment of damage. The mean±SD age of BD patients and control group was 38.19±10.99 and 33.65±7.29 years, respectively. The Physical Health score as well as most of SF-36 domains including Role Physical, Bodily Pain, General Health, Vitality, and Mental Health were significantly lower in BD patients compared with the control group (P<0.05). There was significant correlation between the Physical and Mental Health scores and most of SF-36 domains with disease activity and clinical symptoms including genital ulcers, ophthalmic and central nervous system (CNS) involvement (P<0.05). Significant correlation was only observed between VDI and Bodily Pain domain (P<0.05). Quality of life is impaired in BD patients, and this impairment is related with disease severity. It seems that presence of genital ulcers, eye and CNS involvement lead to the impairment of QoL in BD patients. These results highlight the importance of nursing interventions in managing clinical symptoms in these patients.

Investigating the link between ischemic heart disease and Behcet's disease: A cross-sectional analysis

BackgroundBehcet's disease (BD) is a multi-systemic chronic inflammatory disorder which involves the vasculature tree of all sizes. The current study's aim was to examine the association between BD and the development of ischemic heart disease (IHD) and its potential impact as a cardiovascular risk factor. MethodsThis study was conducted as a case-control study utilizing the database of Clalit Health Services. The proportion of IHD was compared between patients diagnosed with BD and age- and gender-matched controls. Univariate analysis was performed using Chi-square and Student t-test and a multivariable analysis was performed using a logistic regression model. Results871 BD patients and 4439 age- and gender-matched controls were included in this study. The proportion of IHD amongst BD patients was increased in comparison with controls (10.9% vs. 7.52% respectively, p-value=0.001). BD was associated with IHD on multivariable analysis (odds ratio 1.485, 95% confidence interval 1.106–1.982). When the comparison between BD patients with IHD and controls with IHD was stratified according to risk factors, age younger than 70 and male gender were both found to be significantly elevated in the BD group. ConclusionsBD patients have an increased proportion of IHD in comparison with matched controls. Our findings demonstrate that the population of BD patients with IHD has a higher proportion of younger males in comparison with controls with IHD.

THU0385 Physician Awareness regarding Behcet's Disease in Cyprus

BackgroundBehcet's disease (BD) is a rare systemic inflammatory disorder characterized by specific clinical features1 that are well known to rheumatologists worldwide. It is particularly common in the Mediterranean, the Middle...

AB0604 Heat Shock Protein Gene-60 (HSP 60) Polymorphism in Behcet's Disease

BackgroundBehcet's Disease (BD) has the hallmarks of complex genetic disorder. The most established genetic marker-HLA B51 does not account for more than 20% of the relative risk in siblings of...

SAT0295 Determining the Prevalance of Sacroiliitis in Behcet's Disease by Magnetic Resonance Imaging

BackgroundBehcet's disease (BD) is a multisystem inflammatory disease with oral and genital ulcers. It was classified as one of the seronegative arthritis in sixties and seventies due to occurrence of...

AB0573 Demographic and Clinical Features of Behcet's Disease (BD) in Two Cohort Patients from North Caucasus

BackgroundBehcet's disease (BD) is chronic disorders characterized by multisystem manifestation. Several studies showed regional differences in BD presentation. The data about BD on Caucasus through passed Silk Road is not...

Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and variations of homocysteine concentrations in patients with Behcet's disease

BackgroundBehcet's disease (BD) is a chronic, relapsing, multi-systemic inflammatory disorder of unknown causes. This disease is mainly characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The aim of this study is to investigate the associations between C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the plasma homocysteine (Hcy), folate, and B12 levels in a relatively large cohort of Tunisian patients with BD. MethodsThe study included 142 patients with BD and 172 healthy controls. The C677T and A1298C polymorphisms were genotyped using PCR-RFLP. Serum Hcy level was determined using a fluorescence polarization immunoassay. Serum folate and vitamin B12 levels were measured by electrochemiluminescence immunoassay. ResultsGenotype and allele frequencies of the two studied MTHFR polymorphisms did not show any significant differences among BD patients compared to controls. Patient carriers of the 677TT variant and the 677T allele displayed significantly higher Hcy concentration. Moreover, no significant association was found between neither A1298C polymorphism nor the C allele and Hcy, folate, and B12 levels. In multivariate analyses, we reported that 677T allele, male gender, and creatinine level were independent risk factors for hyperhomocysteinemia (HHC). ConclusionsIn the present study, we report the absence of any significant differences between genotype and allele frequencies for both studied polymorphisms among BD patients compared to healthy controls. Besides, we showed that the T allele of MTHFR C677T polymorphism influenced the Hcy level which is an independent risk factor for HHC in Tunisian BD patients.

SAT0176 Long Term Successful Results of Medical (Steroid, Cyclophosphamide With/Without Interferon Alpha) and/or Endovascular Intervention for Aneurysm of Behcet Disease

BackgroundBehcet disease (BD) can present with arterial and/or venous involvement. Rupture of aneurysms is a major cause of mortality in BD. We lack evidence based data for the treatment/management of...

Kimura's disease and Behcet's syndrome in the same family – are they associated?

BackgroundBehcet's disease (BD) and Kimura's disease (KD) are two inflammatory diseases commonly found in Japan. In Israel, both diseases are quite rare. Recently, we encountered a family whose three siblings suffer from BD and an additional brother suffers from KD. This observation raised the question as to whether both diseases have a common underlying genetic basis. Aim of the studyTo describe this unique family and to search for possible common alleles in the IL10 gene between BD and KD, as several SNPs in this gene are known to be associated with BD. MethodsThree BD siblings and their brother with KD were interviewed and examined. Genomic DNA was prepared from blood samples taken from all nine members of the family. The DNA was genotyped for sequence variations of six SNPs on the IL10 gene. ResultsThe IL10 SNPs did not segregate with BD and KD suggesting that there was no association between the IL10 gene and these diseases in this family. ConclusionsSNPs in the IL10 gene shown to be susceptibility factors in adult BD were not associated with BD in this family. The question regarding a possible common genetic basis for KD and BD requires further investigation.

A study on thrombophilic factors in Italian Behcet's patients

Background Behcet's disease (BD) may complicate with arterial and venous thrombosis. The purpose of this work is to evaluate in an Italian group of BD patients with thrombotic events a large panel of inherited and acquired thrombophilic factors. Methods Thirty BD patients, of which nine with previously arterial or venous thrombosis and 21 without, underwent the following investigations: plasma antithrombin activity, protein C activity, free protein S level, sensitivity to APC, total plasma homocysteine concentration, serum folate level, determination of anti-phospholipid antibodies, serum Lp(a) levels, tests for gene polymorphisms of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase genes. Tests for the gene polymorphisms were also performed in a group of healthy control subjects. Results All the six patients with arterial or deep venous thrombosis showed thrombophilic conditions such as protein C or protein S deficiency (one case each), hyperhomocysteinemia (two cases), positivity of anti-phospholipid antibodies associated with APC resistance or hyperhomocysteinemia (one case each). Among three subjects with superficial thrombophlebitis only one showed a mild hyperhomocysteinemia. No differences were found between BD patients and control subjects concerning polymorphisms of the genes considered. Among BD patients the Factor V H1299R mutation showed a weak association with venous thrombosis ( P = 0.048). Conclusion In BD patients different concomitant significant thrombophilic risk factors may contribute to the development of thrombotic events. Patients affected by vasculo-Behcet should be evaluated for the presence of coexisting major thrombophilic conditions.