Comparison of International Study Group Criteria and International Criteria for Behcet's Disease in the Azeri population of Iran

Introduction: Behcet's disease (BD) is a chronic systemic inflammatory disease affecting multiple organs and systems such as mucosa, skin, eye, joints and cardiovascular, nervous and gastrointestinal systems. Various criteria are proposed for the assessment of BD. This study was designed to compare performance of two internationally collaborated criteria for diagnosis of BD, namely International Study Group (ISG) criteria and International Criteria for Behcet's Disease (ICBD) in the Azeri population of Iran. Methods: In a descriptive analytical study, 859 consecutive patients with one of the major clinical manifestations of BD were included. All patients were examined and evaluated by an expert rheumatologist and diagnosis was confirmed clinically. All patients were assessed by ISG and ICBD criteria. Finally, sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of both criteria were calculated. Results: We included 859 patients in this study. BD was diagnosed in 211 patients. Sensitivity, specificity and accuracy of ISG criteria were 64.9%, 100%, and 91.4%, respectively. Sensitivity, specificity and accuracy of ICBD criteria were 94.7%, 99.6% and 98.5%, respectively. Conclusion: Based on the finding of the present study, sensitivity and accuracy of ICBD criteria for diagnosis of BD in Azeri population are higher than ISG criteria. So we propose to use ICBD criteria for the evaluation of patients with suspected BD to decrease the rate of missed diagnosis

A novel TNFRSF1A gene mutation in a patient with tumor necrosis factor receptor-associated periodic syndrome

© 2016 King Faisal Specialist Hospital & Research CentreTumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor α. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here, we report an 8-year-old boy with febrile attacks occurring every 1–2 months and continuing for 3–4 days. The patient experienced 40 °C-fever attacks without chills. Approximately 80% of fever attacks were accompanied by abdominal manifestations. Direct sequencing analysis was used to assess the genomic DNA of the patient, and a heterozygous R426L mutation in exon 10 of the TNFRSF1A gene in an autosomal dominant inheritance fashion was identified. Further genetic analyses were also carried out on his parents. Due to the fact that the mutation was not inherited from the parents, it was likely that R426L was a de novo and novel mutation in the TNFRSF1A gene, which can trigger TRAPS or TRAPS-like symptoms

Evaluating the diagnosis and treatment of neuro-Behçet’s disease with cascade sign appearance in brainstem: a case report

This study aimed to investigate a case of neuro-Behçet’s disease misdiagnosed as acute ischemic stroke or multiple sclerosis (MS). The studied case was a 29-year-old man with subacute onset of hemiparesis, dysarthria, and ataxia who was diagnosed as acute ischemic stroke at first. Due to no significant improvement, the patient was managed as an MS case, but he did not experience any improvements again. We noticed a history of oral and genital aphthous and cascade sign appearance in his brain MRI. Then, Behçet’s disease with secondary parenchymal involvement of brainstem was confirmed. The patient received infliximab, which resulted in clinico-radiological recovery. Practical Implications. Given the prevalence of Behçet’s disease in the Middle East, the possibility of its diagnosis should be considered in patients with atypical history or imaging for ischemic stroke or MS