Sinusogenes orbital complication as the first symptom of refractory granulomatosis with polyangiitis and the use of rituximab in treatment. A case report

Granulomatosis with polyangiitis (GPA) is a rare disease involving multiple organs and systems, characterized by necrotizing inflammation of small and medium-sized vessels and formation of granulomas. There are several forms of the disease. In the generalized form (including severe one), cyclophosphamide in combination with steroids is usually used. There are also cases of a particularly severe and refractory course of the disease, which do not respond to the standard treatment. In such cases some other methods of treatment are recommended, including biological agents such as rituximab - anti-CD20 monoclonal antibody. We described a case of a 17-year-old patient with refractory GPA, resistant to standard remission induction therapy. In case of this patient, advanced lesions were mainly localized in the lungs, sinuses and middle ear. The disease progressed despite standard therapy. Therefore, it was decided to use an alternative treatment with a biological agent – rituximab. In the assessment after therapy we observed a significant clinical recovery as well as the improvement in laboratory tests, pulmonary function tests and radiological imaging. Within six months after the administration of rituximab, progression of the disease was not observed, which was evidenced in radiological imaging and pulmonary function tests. The case illustrates how biological agents, including rituximab, are extending the therapeutic options for patients with GPA, especially with severe forms of the disease

PPARgamma-2 and ADRB3 polymorphisms in connective tissue diseases and lipid disorders

Bogna Grygiel-Górniak,1 Iwona Ziółkowska-Suchanek,2 Elżbieta Kaczmarek,3 Maria Mosor,2 Jerzy Nowak,2 Mariusz Puszczewicz1 1Department of Rheumatology and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland; 2Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland; 3Department of Bioinformatics and Computational Biology, Poznan University of Medical Sciences, Poznan, Poland Background: The aim of the research genetic study was to investigate the association between variants (C1431T and Pro12Ala) of the peroxisome proliferator-activated receptor (PPARgamma-2) gene, Trp64Arg polymorphism of the beta-3-adrenergic receptor gene and lipid profile in Polish population including group of 103 patients with connective tissue disease (CTD) and 103 sex- and age-matched controls in context of statin use. Methods: Anthropometric and biochemical parameters were measured by routine methods, followed by genotyping (TagMan® Genotyping Assays, PCR-restriction fragment length polymorphism analysis). Nearly 30% of CTD patients used statins and 10% of the control group. Results: Although there were no differences between alleles and genotypes prevalence between CTD vs control groups, interesting lipid-gene associations were noted in this study. A higher level of triglycerides (TAG) and TAG/high-density lipoprotein (HDL) ratios was observed in CTD patients compared to controls. Similar differences were noted in CTD and control groups without statin treatment. Atherogenic markers: the atherogenic index of plasma, TAG/HDL and low-density lipoprotein/HDL ratio were low in the analyzed groups. Of the six analyzed polymorphisms, the Pro12Pro or C14131C or Trp64Trp genotypes were related to higher TAG and TAG/HDL ratios in patients with CTD; however, the highest TAG values were observed in the presence of the Trp64Trp genotype. Conclusion: Lipid disorders were present in both groups independent of statin treatment (mixed dyslipidemia and hypercholesterolemia were observed in the CTD and control groups, respectively). The risk of dyslipidemia increases with age. The presence of Pro12Pro, C14131C and Trp64Trp genotypes is related to higher TAG level in CTDs, and of these the Trp64Trp variant most reliably predicts hypertriglyceridemia. Keywords: C1431T, Pro12Ala, Trp64Arg polymorphisms, lipoproteins, rheumatic diseases, statin

Eular Evidence-Based Recommendations For The Management Of Fibromyalgia Syndrome

Objective: To develop evidence-based recommendations for the management of fibromyalgia syndrome. Methods: A multidisciplinary task force was formed representing 11 European countries. The design of the study, including search strategy, participants, interventions, outcome measures, data collection and analytical method, was defined at the outset. A systematic review was undertaken with the keywords "fibromyalgia'', "treatment or management'' and "trial''. Studies were excluded if they did not utilise the American College of Rheumatology classification criteria, were not clinical trials, or included patients with chronic fatigue syndrome or myalgic encephalomyelitis. Primary outcome measures were change in pain assessed by visual analogue scale and fibromyalgia impact questionnaire. The quality of the studies was categorised based on randomisation, blinding and allocation concealment. Only the highest quality studies were used to base recommendations on. When there was insufficient evidence from the literature, a Delphi process was used to provide basis for recommendation. Results: 146 studies were eligible for the review. 39 pharmacological intervention studies and 59 non-pharmacological were included in the final recommendation summary tables once those of a lower quality or with insufficient data were separated. The categories of treatment identified were antidepressants, analgesics, and "other pharmacological'' and exercise, cognitive behavioural therapy, education, dietary interventions and "other non-pharmacological''. In many studies sample size was small and the quality of the study was insufficient for strong recommendations to be made. Conclusions: Nine recommendations for the management of fibromyalgia syndrome were developed using a systematic review and expert consensus.WoSScopu