Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease

Behcet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wide association study with 311,459 SNPs in 1,215 individuals with Behcet's disease (cases) and 1,278 healthy controls from Turkey. We confirmed the known association of Behcet's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. We also identified an association at IL10 (rs1518111, P = 1.88 x 10(-8)). Using a meta-analysis with an additional five cohorts from Turkey, the Middle East, Europe and Asia, comprising a total of 2,430 cases and 2,660 controls, we identified associations at IL10 (rs1518111, P = 3.54 x 10(-18), odds ratio = 1.45, 95% CI 1.34-1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 x 10(-9), OR = 1.28, 95% CI 1.18-1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production

Behçet’s disease: an update on pathogenesis, diagnosis and management of vascular involvement

The objective of this review is to summarize reports of the prevalence, clinical presentation, diagnostic methodology and treatment of vasculitic manifestations of Behçet’s disease (BD). We performed a literature search on vasculitis in BD. Articles were selected which provided insight into the pathogenesis and clinical aspects of vasculitis. Vasculitis underlies many of the clinical features of BD. Small vessel vasculitis is often found in the pathology of the mucocutaneous manifestations of BD. Large vessel vasculitis has been reported in 15-40% of BD patients. Ultrasound, angiography and tomography are applied to confirm the diagnosis when venous involvement is suspected. Endothelial dysfunction plays a role in the pathogenesis of disease. Peripheral arterial involvement in BD occurs in the form of arterial occlusion or aneurysms. Pulmonary arterial involvement is often life-threatening. The cause of cardiac vascular involvement requires an aggressive diagnostic approach. Corticosteroids and immunosuppressive agents have been used successfully in the early stage of large vessel disease and should be used as an adjunct to surgery. An increasing amount of data is available regarding the role of anti-tumor necrosis factor (TNF) agents for the treatment of BD. Anticoagulant therapy may be hazardous in patients with aneurysmal dilatation of the pulmonary vascular tree and is not effective in the treatment of venous thrombosis. Inflammation of small and large vessels is very frequent in BD. Both arteries and veins may be involved. Early recognition and appropriate management of large vessel vasculitis in BD is essential to reduce associated morbidity and mortality

Epididymo-Orchitis in Bechet's Disease: A Review of the Wide Spectrum of the Disease

 Behçet’s disease is a chronic, recurrent, inflammatory disorder characterized by orogenital ulcers and skin lesions; serious manifestations also include ocular, large vessel, gastrointestinal and neurological involvement. Genetic and unknown environmental factors modify the wide clinical spectrum of the disease. During the long clinical course of the disease, testicular and epididymal involvement has been reported, with scrotal pain and swelling being the most common symptoms. In this review, we discuss the various aspects of epididymo-orchitis in Behcet’s disease patients, and we evaluate the diagnostic approaches as well as the empirical therapeutic modalities of this entity.

Pierwszy opublikowany przypadek choroby Adamantiadesa-Behęeta w czasach nowożytnych — ponowna analiza

The first case of the so-called Adamantiades-Behęets disease was presented by Benediktos Adamantiades in the annual meeting o f the Medical Society o f Athens on 15th November 1930 under the title “A case o f recurrent iritis with hypopyon”. It was published in the proceedings of Athens Medical Society in 1930. This paper, including an English translation of this presentation, provides proof that Adamantiades was aware that he was describing a new clinical entity.Pierwszy przypadek choroby Adamantiadesa-Behęeta został przedstawiony przez Benediktosa Adamantiadesa na dorocznej konferencji Ateńskiego Towarzystwa Medycznego 15 listopada 1930 roku pod tytułem „Przypadek nawracającego zapalenia tęczówki z ropostekiem” Wystąpienie zostało opublikowane w sprawozdaniach z Ateńskiego Towarzystwa Medycznego z 1930 roku. Obecna praca dostarcza, wraz z angielskim tłumaczeniem oryginalnego tekstu, dowodu, że Adamantiades był świadomy odkrycia nowej jednostki chorobowej

A single infliximab infusion vs corticosteroids for acute panuveitis attacks in Behcet's disease: a comparative 4-week study

Methods. A prospective, observational study of patients with panuveitis, who received either an infliximab infusion (5 mg/kg, 19 eyes) or high-dose methylprednisolone intravenously (1 g/day for 3 days, 8 eyes), or intra-vitreal triamcinolone acetonide (4 mg, 8 eyes) at attack’s onset. Baseline maintenance therapy remained unchanged during the following 30 days. Visual acuity, anterior chamber cells, vitreous cells and inflammation of the posterior eye segment were assessed at baseline and at Days 1, 7, 14 and 29 (+/- 1) post-treatment. Results. While no significant differences were noted between i.v. and intra-vitreal CSs, infliximab was faster than CSs in decreasing total ocular inflammation scores and fundus inflammation scores (P = 0.01 and P < 0.0001 for treatment x time(2) interaction, respectively, using generalized estimating equation analysis). Independently of time, infliximab was superior to CSs in clearing retinal vasculitis (P < 0.003), as well as in resolution of retinitis (P = 0.008) and cystoid macular oedema (P < 0.007). Moreover, a faster regression of cystoid macular oedema was observed with infliximab compared with CSs (P < 0.03). The beneficial effects of the three treatment modalities on visual acuity were comparable from baseline to the end of follow-up. No side effects were noted with infliximab or methylprednisolone, whereas intra-vitreal triamcinolone acetonide caused ocular hypertension in four of the eight eyes, requiring surgical intervention in two. Conclusion. A single infusion of infliximab should always be considered, even as an adjunct therapy, for the control of acute panuveitis attacks in BD

Diffuse Calcifications of the Spleen in a Woman with Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease, which affects a wide variety of organs including the spleen. Splenic involvement in SLE includes conditions such as splenomegaly, hyposplenism, infarction, and spontaneous rupture. However, only a few cases of splenic calcifications in patients with SLE have been reported. Herein, we present a case of a 24-year-old female diagnosed with SLE, in which we found diffuse splenic calcifications. The unique pattern of splenic calcifications in SLE contributes to the differential diagnosis from other conditions such as infections and other connective tissue diseases, which also cause calcifications in the spleen