Recurrent intra-cardiac thrombosis: A rare manifestation of Behçet's disease.

Behçet's disease is a systemic vasculitis characterized by recurrent bipolar aphtosis and ophthalmic disorders. Cardiac involvement is rarely reported and could be associated to poor prognosis. Intracardiac thrombosis is exceptional and represents a therapeutic issue. We report the case of a young man admitted in internal medicine department for management of prolonged fever and recurrent mouth ulcers.

Thrombotic manifestations in pediatric Behcet syndrome: A multicenter comparative study from the EUROFEVER registry.

INTRODUCTION: Vascular events account for a considerable burden of morbidity and mortality in Behçet syndrome (BS). Thrombosis occurs in 1.8-21 % pediatric BS patients, even if the real prevalence is still largely unknown. OBJECTIVES: To report clinical features and outcomes of pediatric BS patients with thrombosis and to compare the demographic and clinical characteristics of BS patients with and without thrombosis. METHODS: Retrospective data collection of BS patients with thrombosis (T+) included in the EUROFEVER registry. BS patients without thrombosis (T-), belonging to the same rheumatology units, were matched in a 2:1 ratio. RESULTS: 37 T+ were compared to 74 T- patients. At onset, ICBD criteria fulfillment was higher in the T- group (p = 0.015). Caucasian patients were more often T-, Turkish patients were more frequent in T+ group (p = 0.002). At onset, pustulosis was most frequently observed in the T- (p < 0.001) as well as gastrointestinal symptoms (p < 0.001) and ocular involvement (p = 0.022). Neurological symptoms were more often described in T+ (p = 0.034). As for T+, thrombosis was reported at BS presentation in 8/37 (21.6 %). For the T + e patients who developed thrombosis later, oral aphthosis (p = 0.003), genital aphthosis (p = 0.014) were more frequently observed at BS onset, while pustulosis (p = 0.005) and fever (p = 0.043) coexisted with thrombosis. Thrombosis was mainly venous (26/37,70.3 %), involving the cerebral sinuses (21/37, 56.8 %). After thrombosis, 35/37 (94.6 %) T+ patients received an immunomodulatory treatment compared with 16/29 (55.2 %) pre-thrombosis. A recurrence was reported in 6/31(19.4 %). CONCLUSION: Thrombosis was reported at BS presentation in one fifth of cases. Pustolosis and fever were more frequently concomitant to thrombosis. Sinus veins were the most frequent site.

Optimal Treatment Approaches to Intestinal Behçet's Disease Complicated by Myelodysplastic Syndrome: The KASID and KSBD Multicenter Study.

PURPOSE: Studies on intestinal Behçet's disease (BD) complicated by myelodysplastic syndrome (MDS) are rare, and no established therapeutic guidelines exist. This study aimed to evaluate the clinical presentation and outcomes of patients with intestinal BD complicated by MDS (intestinal BD-MDS) and suggest a treatment strategy. MATERIALS AND METHODS: Data from patients with intestinal BD-MDS from four referral centers in Korea who were diagnosed between December 2000 and December 2022 were retrospectively analyzed. Clinical features and prognosis of intestinal BD-MDS compared with age-, sex-matched intestinal BD without MDS were investigated. RESULTS: Thirty-five patients with intestinal BD-MDS were included, and 24 (70.6%) had trisomy 8. Among the 35 patients, 23 (65.7%) were female, and the median age at diagnosis for intestinal BD was 46.0 years (range, 37.0-56.0 years). Medical treatments only benefited eight of the 32 patients, and half of the patients underwent surgery due to complications. Compared to 70 matched patients with intestinal BD alone, patients with intestinal BD-MDS underwent surgery more frequently (51.4% vs. 24.3%; p=0.010), showed a poorer response to medical and/or surgical treatment (75.0% vs. 11.4%; p<0.001), and had a higher mortality (28.6% vs. 0%; p<0.001). Seven out of 35 patients with intestinal BD-MDS underwent hematopoietic stem cell transplantation (HSCT), and four out of the seven patients had a poor response to medical treatment prior to HSCT, resulting in complete remission of both diseases. CONCLUSION: Patients with intestinal BD-MDS frequently have refractory diseases with high mortalities. HSCT can be an effective treatment modality for medically refractory patients with intestinal BD-MDS.

Behçet's Disease, Pathogenesis, Clinical Features, and Treatment Approaches: A Comprehensive Review.

Behçet's disease is a systemic inflammatory disorder of unknown etiology. The disease manifests with diverse clinical symptoms, most commonly recurrent oral and genital ulcers, skin lesions, and uveitis, though it can affect multiple organ systems. Diagnosis is primarily clinical due to the lack of a definitive diagnostic test, and management involves a multidisciplinary approach to control inflammation and manage symptoms. Current treatment strategies involve corticosteroids, immunosuppressive agents, and, increasingly, biological therapies. Behçet's disease exhibits a higher prevalence along the Silk Road, suggesting a role of environmental and genetic factors. Despite significant progress in understanding its clinical characteristics and treatment approaches, gaps remain in our understanding of its pathogenesis. Future research is needed to elucidate the disease's pathophysiology and optimize treatment strategies.

Coexistence of ankylosing spondylitis and Behçet's disease: Successful treatment with upadacitinib.

BACKGROUND: Ankylosing spondylitis (AS) and Behçet's disease (BD) are distinct inflammatory disorders, but their coexistence is a rare clinical entity. This case sheds light on managing this complex scenario with Janus kinase (JAK) inhibitors. CASE PRESENTATION: A 42-year-old woman presented with a decade-long history of lower back pain, nocturnal spinal discomfort, recurrent eye issues, oral and genital ulcers, hearing loss, pus formation in the left eye, and abdominal pain. Multidisciplinary consultations and diagnostic tests confirmed AS (HLA-B27 positivity and sacroiliitis) and BD (HLA-B51). Elevated acute-phase markers were observed. CONCLUSION: This case fulfills diagnostic criteria for both AS and BD, emphasizing their coexistence. Notably, treatment with upadacitinib exhibited promising efficacy, underscoring its potential as a therapeutic option in patients with contraindications for conventional treatments. Our findings illuminate the intricate management of patients presenting with these two diverse systemic conditions and advocate for further exploration of JAK inhibitors in similar cases.

The clinical and radiological features and prevalence of Neuro-Behçet's Disease: A retrospective cohort multicenter study in Saudi Arabia.

BACKGROUND: Neuro-Behçet's disease (NBD) is defined as primary neurological involvement in patients with systemic symptoms of BD. The variety of clinical presentations seen in NBD and the long list of similar conditions make diagnosis challenging. This retrospective study aimed to estimate the prevalence and describe neurological involvement in patients with Behçet's disease who presented to King Abdulaziz Medical Cities in Jeddah and Riyadh, Saudi Arabia. METHODS: This was a retrospective, cohort study which utilized a non-probability consecutive sampling technique to include all patients diagnosed with NBD patients. All patients with BD (215) were screened for neurological symptoms. Thirty-five patients were found to be diagnosed with NBD. Outcomes were estimated using the modified Rankin scale (mRS). RESULTS: In our cohort, one in six patients with BD was diagnosed with NBD. A total of 35 patients were diagnosed with NBD (mean age 27.56 ± 10.36 years; [2.88:1; Male: Female]). The main clinical features of NBD were headaches, weakness, unsteadiness, and dysarthria. The most commonly involved sites on imaging were the brainstem, diencephalon, cerebellum and basal ganglia. Oligocolonal bands were negative in all patients. Maintenance therapy most commonly included oral corticosteroids, azathioprine, and/or infliximab. Most patients received pulse corticosteroids alone when presenting with acute relapse. Half of our cohort was asymptomatic and three in four had favorable outcomes. CONCLUSION: NBD is common among patients with BD in our population with most patients having favorable outcomes. Patients might have a wide array of symptoms which might make the diagnosis challenging.

Folliculitis might be associated with pathergy-positivity in patients with Behçet syndrome.

Pathergy test indicates nonspecific hyper-reactivity of the skin to aseptic trauma in Behçet syndrome (BS) and is considered as an adjunctive diagnostic test with a good specificity albeit with low sensitivity. We tested the hypothesis that a relationship exists between active clinical manifestations of BS and the pathergy-positivity when performed simultaneously. Pathergy test and detailed dermatologic examination were done in 105 BS patients (60M/45F); who were seen consecutively at the multi-disciplinary BS outpatient clinic in a single tertiary center. Information regarding demographic and clinical characteristics, pathergy test results at diagnosis, and details about treatment were obtained from patient charts. Disease activity was assessed using Behçet Disease Current Activity Form. Among 105 patients, 27 (25.7%) were pathergy-positive at the time of the study visit whereas 40.9% were pathergy-positive at the time of the diagnosis. There was no relation between pathergy test and patient age or disease duration, either. Pathergy-positivity was significantly more common in patients with folliculitis compared to those without folliculitis (40.7% vs 19.2%; P = .026). The test was also positive in all 3 patients with leg ulcers due to venous stasis. We found that among all skin-mucosa lesions only the presence of folliculitis was associated with pathergy positivity with statistical significance. It was also remarkable that the current pathergy was positive in all 3 patients with active leg ulcers but this finding warrants further studies because of the low patient numbers.

Evaluating the risk of ischemic stroke at a young age in patients with autoimmune inflammatory rheumatic diseases: a population-based cohort study in Taiwan.

Background: Recent studies have demonstrated an increased incidence of ischemic stroke among patients with certain autoimmune inflammatory rheumatic diseases (AIIRDs). However, the associations between young stroke and AIIRDs have not been fully investigated. This study aimed to evaluate the risk of ischemic stroke among young patients with AIIRDs. Methods: The National Health Insurance Research Database in Taiwan was utilized to establish cohorts of patients with AIIRDs diagnosed between 2004 and 2015, who were compared with 1,000,000 control participants. Cox proportional hazards regression models were used to calculate the hazard ratio of ischemic stroke and young ischemic stroke for individual AIIRDs after adjustment for relative risk factors. Results: During the study period, a total of 64,120 patients with AIIRDss and 1,000,000 control patients were identified. The overall mean follow-up time was 5.33 years. There were 223 (0.8%) and 1,923 (0.3%) young ischemic stroke-related hospitalizations among patients with AIIRDs and controls, respectively. The incidence rate of young ischemic stroke was 0.08 in patients with rheumatoid arthritis, 0.08 in patients with Sjögren's syndrome, 0.26 in patients with systemic lupus erythematosus, 0.17 in patients with idiopathic inflammatory myositis, 0.24 in patients with systemic sclerosis, 0.05 in patients with Behçet's disease, and 0.44 in patients with systemic vasculitis, versus 0.05 per 100 person-years in the general population. The adjusted hazard ratios for young ischemic stroke were 1.07 (95% CI 0.70-1.43) for rheumatoid arthritis, 1.39 (95% CI 0.94-2.06) for Sjögren's syndrome, 5.79 (95% CI 4.68-7.17) for systemic lupus erythematosus, 2.07 for idiopathic inflammatory myositis (95% CI 0.98-4.38), 2.79 for systemic sclerosis (95% CI 1.38-5.63), 0.82 for Behçet's disease (95% CI 0.26-2.55), and 4.15 (95% CI 1.96-8.82) for systemic vasculitis. Conclusions: Patients younger than 50 years with systemic lupus erythematosus, systemic sclerosis, or systemic vasculitis have a significantly elevated risk of developing ischemic stroke. Further research is needed to elucidate the pathogenesis of accelerated atherosclerosis in these AIIRDs.

Pseudotumoral neuro-behcet's disease: case series and review of literature.

BACKGROUND: Behcet's disease (BD) is a multisystem autoimmune relapsing vasculitis with an almost unknown etiology involving both large and small vessels. The neurological involvement called neuro-Behcet's disease (NBD) is rare. NBD can be responsible for tumor-like masses mimicking low-grade gliomas in only a few cases. METHODS: We report here the main characteristics, treatment, and outcome of 43 patients (4 personal cases and 39 patients from the literature) with a pseudotumoral presentation of NBD (PT NBD). We compared our findings with those of the classical form of NBD. RESULTS: The median age was 35.86 (12-59 years) years, with a male predominance (67.4%). PT NBD was the inaugural of the disease in 51.2% of cases. The neurological manifestations included headache (n = 31), pyramidal syndrome (n = 28), cerebellar syndrome (n = 5), behavioral changes (n = 5), and pseudobulbar signs (n = 2). Ophthalmologic examination revealed papilledema in 3 cases. On cerebral imaging, the most affected regions of the brain were the capsulothalamic region (n = 15, 37.5%) and the brainstem (n = 14, 35). Histological analysis revealed necrotic lesions with perivascular inflammatory infiltrate without signs of tumoral or infectious lesions. Treatment consisted of corticosteroids (n = 40, 93%) and immunosuppressive agents (n = 28, 65.11%), leading to complete clinical and imaging remission in 41.5% of patients. CONCLUSION: PT NBD is a rare but life-threatening condition.

Long-term efficacy, safety, and cumulative retention rate of antitumor necrosis factor-alpha treatment for patients with Behcet's uveitis: A systematic review and meta-analysis.

AIM: This study aims to evaluate the long-term efficacy, safety, and cumulative retention rate of antitumor necrosis factor-alpha (anti-TNF-α) therapy for patients with Behcet's uveitis (BU) using meta-analysis. METHODS: We searched the Web of Science and PubMed databases for eligible studies up to December 1, 2022. The quality of each identified study was assessed using the Joanna Briggs Institute's case series literature quality assessment tool. Statistical analysis was conducted using Stata 16.0 software with a random-effects model. RESULTS: Twelve studies comprising 1156 patients with BU were included in our analysis. We found that 85.0% of patients achieved ocular inflammation remission after receiving anti-TNF-α treatment, with a 95% confidence interval (CI) ranging from 78.7% to 90.5%. Additionally, 77.4% (95% CI: 57.5%-92.5%) experienced an improvement in visual acuity (VA). Moreover, the pooled dose reduction of glucocorticoids (GCs) was 11.08 mg (95% CI: -13.34 mg to -8.83 mg). Throughout the follow-up period, the cumulative retention rate of the medication was 67.3% (95% CI: 53.7%-79.6%). Serious adverse events occurred in 5.8% (95% CI: 3.1%-8.9%) of cases, with the three most common types being severe infusion or injection reactions (2.7%; 95% CI: 0.8%-5.4%), tuberculosis (1.3%; 95% CI: 0.0%-3.9%), and bacterial pneumonia (1.3%; 95% CI: 0.1%-3.4%). Subgroup analysis revealed that ocular inflammation remission rates were 89.3% (95% CI: 81.2%-95.5%) for adalimumab treatment and 83.7% (95% CI: 75.3%-90.8%) for infliximab treatment. The drug retention rate after adalimumab therapy was 70.3% (95% CI: 62.0%-78.0%) compared to 66.4% (95% CI: 48.6%-82.2%) for infliximab treatment. Furthermore, the incidence of severe infusion or injection reactions was 2.2% (95% CI: 0.1%-5.8%) following adalimumab treatment and 3.5% (95% CI: 0.7%-7.7%) following infliximab treatment. CONCLUSIONS: Anti-TNF-α therapy represents an effective treatment for BU patients with favorable safety profile and high drug retention rate and a potential advantage of adalimumab over infliximab in terms of ocular inflammation remission, drug retention, and the incidence of severe infusion or injection reactions.

Behçet's syndrome.

Behçet's syndrome is a rare, chronic multisystemic inflammatory disorder also known as the Silk Route disease due to its geographical distribution. Behçet's syndrome is a multifactorial disease and infectious, genetic, epigenetic, and immunological factors contribute to its pathogenesis. Its heterogeneous spectrum of clinical features include mucocutaneous, articular, ocular, vascular, neurological, and gastrointestinal manifestations that can present with a relapsing and remitting course. Differential diagnosis is often hampered by the non-specific clinical presentation and the absence of laboratory biomarkers or pathognomonic histological features. The therapeutic approach is tailored on the basis of patient-specific manifestations and relies on glucocorticoids, colchicine, and traditional and biological immunosuppressants. Despite progress in the knowledge and management of the disease, unmet needs in diagnostics, monitoring, prediction, and treatment personalisation challenge clinical practice, making Behçet's syndrome a complex disorder associated with an increased risk of morbidity.

Increased inferior vena cava wall thickness as a sign of extensive venous inflammation in Behçet's Disease.

INTRODUCTION/OBJECTIVES: Behçet's disease (BD) affects both arterial and venous vessels. We have previously shown that common femoral vein wall thickness (WT) is increased in BD and can be used as a diagnostic test. However, there is limited data assessing large veins. Therefore, this study seeks to assess inferior vena cava wall thickness (IVC) by transthoracic echocardiography (TTE) in BD compared to healthy controls (HC). METHODS: Age- and gender-matched 70 BD patients and 51 HC were included. IVC wall thickness and common femoral vein WT were measured by TTE and Doppler ultrasonography, respectively. All examinations were performed on the same day as the clinical assessment. RESULTS: The mean IVC wall thickness of BD patients was significantly higher than HC (2.9 mm (0.3) vs 2.6 mm (0.3), p < 0.001). Patients with mucocutaneous involvement (2.8 mm (0.3)) and major organ involvement (2.9 mm (0.3)) had significantly thicker walls compared to HC (p = 0.003, p < 0.001, respectively). IVC wall thickness was higher in patients with vascular involvement compared to those with nonvascular major organ involvement (3.1 mm (0.3) vs 2.8 mm (0.2), p = 0.04). There was a moderate correlation between IVC and common femoral vein WT (r = 0.49 for the right, r = 0.43 for the left, p = 0.01 for both). CONCLUSION: This study shows that venous wall inflammation is not limited to lower extremity veins and is also present in IVC walls of BD patients regardless of IVC involvement. Vascular wall inflammation is probably a widespread vascular event of all venous walls in BD. Key Points • Venous wall inflammation is not limited to lower extremity veins and is present also in IVC wall in Behçet's disease. • Extensive venous wall inflammation in Behçet's disease includes large venous structures despite not being clinically involved.