Rheumatology (Bulgaria)最新文献

{"title":"Chondroitin Sulfate for Osteoarthritis – Is There a Risk for Cancer: an Analysis of Osteoarthritis Initiative Data","authors":"S. Lambova, V. Shirinsky, I. Shirinsky","doi":"10.35465/31.4.2023.pp14-27","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp14-27","url":null,"abstract":"The aim of this study was to evaluate the association between chondroitin   sulfate (CS) use and incidence of self-reported cancer during 6-year follow up in the     publicly available Osteoarthritis Initiative (OAI) cohort participants. \u0000Materials and Methods: The current study included analysis of 6-year longitudinal data obtained from the OAI progression (n= 1390) and incidence (n = 3284) subcohorts that are publicly available at https://nda.nih.gov/oai/. The inclusion criteria for OAI were the following: age between 45 and 79 years for both subcohorts, symptomatic tibiofemoral knee osteoarthritis (OA) for the progression subcohort, and the presence of established or putative risk factors for incident knee OA for the incidence subcohort. The OAI participants were recruited and enrolled between February 2004 and May 2006 at four recruitment centres in the United States. This study received ethical approval from each recruitment centre. All participants provided written informed consent. To reduce the risk of bias, only participants who did not take CS at baseline were included in the analysis (a “new-user” design). \u0000Results: 570 (18%) new users of CS and 2597 (82%) CS non-users were compared. In the CS user group, 294 (51.6%) participants received CS for more than one year, 291 (33.5%) for more than 2 years, 123 (21.6%) for more than 3 years, and 60 (10.5%) for more than 4 years. None of the participants received CS for more than 5 years. CS users and non-users were of the same age, had similar male/female ratio, and similar body mass index. In the non-user group, there were more African-American participants and there were more current smokers. 160 (6.2%) and 37 (6.5%) cases of incident self-reported cancer in the non-users and user groups were identified. There was no association between the use of CS and incident self-reported cancer in the non-adjusted analyses. The adjustments for age, race and smoking status did not change the results. \u0000Conclusion: The results of the current study did not show an association between CS use and self-reported cancers. Considering the complex function of CS in the development and progression of malignant tumors, there is a need for further epidemiological studies evaluating CS effects on specific types of cancers and in different genetic backgrounds.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"3 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: a rare combination of diffuse idiopathic skeletal hyperostosis and cervical septic spondylodiscitis","authors":"Denis Shakir, H. Tsonev, Kristian Ninov, Simeon Monov, Hristo Hristov","doi":"10.35465/31.4.2023.pp112-122","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp112-122","url":null,"abstract":"Ossification of the anterior longitudinal ligament of the spine is a rare pathology with still unclear etiopathogenesis, although some authors associate it with metabolic diseases such as diabetes. Another rare disorder whose etiopathogenesis is also closely related to immunological disorders in diabetes is spinal epidural empyema. We present a case of a 62-year-old man with comorbidities of arterial hypertension and type II diabetes mellitus, with complaints of dysphagia and throat discomfort one and a half years prior to hospitalization. About a month before hospitalization, the patient reports pain with limited cervical mobility, followed by episodes of fever up to 38°C, with developing upper extremity muscle weakness and self-care incapacity. After imaging and laboratory studies, the patient was diagnosed with Forestier disease according to Resnick and Niwayama criteria, with ossification of the anterior longitudinal ligament and spondylodiscitis with epidural empyema in the cervical compartment. The patient was started on empiric antibiotic therapy and emergency surgery was undertaken for osteophytectomy, median corpectomy with medullar decompression and vertebrodesis. Postoperatively, the patient had improvement in dysphagia and upper extremity muscle strength - MRC 5/5 at the 6-month follow-up. Timely diagnosis and operative treatment with adequate decompression, anterior vertebrodesis and subsequent targeted antibiotic therapy are essential for a good outcome in the management of patients with this combined pathology.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"17 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Bone Mineral Density in a cohort of Juvenile Idiopathic Arthritis patients","authors":"S. Miladi, M. Rachdi, M. Boudokhane, A. Fazaa, H. Boussaa, Yasmine Makhlouf, K. Abdelghani, A. Laatar","doi":"10.35465/31.4.2023.pp42-46","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp42-46","url":null,"abstract":"Introduction: Low bone mass is encountered in patients with Juvenile idiopathic arthritis (JIA) as a serious long-term complication of this pediatric condition and may be associated with fractures and its complications. \u0000The present study aimed to evaluate the frequency of low bone mineral density (BMD) and fragility fractures in patients with JIA in its polyarticular or oligo articular forms. Secondary, our aim was to identify factors associated with low bone mass. \u0000Patients and methods: This is a retrospective study conducted on 26 patients with JIA meeting the ILAR criteria for poly or oligoarticular form. Patients were divided into two groups according to their age : group1 including patients aged over 16 years-old and group 2 including patients aged under 16 years-old. Sociodemographic, clinical, biological and functional data were collected by consulting patient’s medical records. Bone mineral density was measured at three different sites: whole body, lumbar spine and hip using the dual-energy X-ray absorptiometry (DXA) equipment. Data were entered and analyzed using SPSS version 11.5 software. \u0000Results: Twenty-six JIA patients including 20 females (74.1%) and six males (22.2%) were enrolled with a mean disease duration of 20.23 years [2-54 years]. The mean age was 28.2 years [7-58 years]. The distribution of JIA subtypes among patients was as follows: 6 with oligo articular JIA and 20 with polyarticular JIA. Sixteen patients (59%) practiced regular physical activity. In our series, the frequency of low bone mineral density was 41% in children with JIA and 68 % in adults with JIA. Only two patients presented a fragility fracture in adulthood represented by a hip fracture following low-energy trauma and treated surgically in both cases. No patient received an anti-osteoporotic treatment. In-group 1, there was a significant correlation between low bone mass and weight (p=0.020), BMI (p=0.028), disease duration (p=0.045), positivity of AAN (p=0.050), disease activity (p=0.019), oral corticosteroid (p=0.034) and biologic treatment (p=0.043). In-group 2, a statistically significant correlation was found between low bone mass and age at the time of JIA diagnosis (p=0.041), weight (p=0.03), physical activity (p=0.05), disease duration (p=0.021), functional impact of the disease assessed by the HAQ score (p=0.018), oral corticosteroid therapy (p=0.014) and biological therapy (p=0.012). \u0000Conclusion: our study showed that a combination of factors contributed to compromise bone health in patients with JIA. Fragility fractures were rare and occurring mainly in adulthood. An adequate control of disease activity, proper management of treatment, adequate calcium and vitamin D intake, as well as regular physical activity, may contribute to preserve bone health in those patients.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"18 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19 and post-COVID-19 syndrome as an occupational disease","authors":"Jaklin Svetoslavova Doncheva - Dilova, V. Boyadzhieva, Tanja Kuneva","doi":"10.35465/31.4.2023.pp60-77","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp60-77","url":null,"abstract":"An occupational disease is one that occurs exclusively or mainly under the influence of the harmful factors of the working environment and is included in the list of occupational diseases. Since the early stages of the pandemic, it has been proposed that COVID-19 be recognized as an occupational disease worldwide, but to date the situation varies from country to country. Even more serious turn out to be the complications of the disease (the so-called long COVID or post- COVID-19 syndrome (PCS). Patients may experience symptoms for up to 3 months or more after the onset of infection, which significantly reduces their ability to work and impairs their quality of life. To date, COVID-19 and long-term COVID-19 are not included in the lists of occupational diseases provided by international organizations (International Labor Organization, World Health Organization (WHO), European Union (EU)) and are not recognized as an occupational disease in Bulgaria and in most countries. This leads to a number of economic complications both for the patients (and their families), as well as for the employer and the state.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"23 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The vitamin D story – a 2023 update on fractures and falls","authors":"Mihail Anguelov Boyanov, M. Boyanova","doi":"10.35465/31.4.2023.pp47-59","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp47-59","url":null,"abstract":"Vitamin D is more than just a vitamin – it is a real hormone with great importance for the bone-muscle unit and for many other tissues and biological processes in the human organism. This narrative review is focused on the available evidence for skeletal effects of vitamin D – possible reduction of falls and fractures in elderly people. We follow the natural path of the vitamin D story with the growing interest and hopes followed by some disappointment and then by mere realism. A number of meta-analyses are discussed in an attempt to better describe the available knowledge and the up-to-date consensus on vitamin D. In short, the existing evidence shows a modest effect of vitamin D supplements on fractures and falls, which may be comparable to that of some older antiresorptives. Current consensus statements identified the following subgroups that would benefit most from vitamin D supplements: the elderly, the institutionalized, those with vitamin D insufficiency/deficiency or secondary hyperparathyroidism, those at higher risk of fractures and falls (osteoporosis included). As fractures and falls seem to be dependent from the baseline levels of vitamin D, serum levels should be measured and supplementation should be tailored accordingly (800 – 2000 IU daily). A combination with daily calcium of 600 – 1200 mg is highly recommended to enhance the skeletal effects of vitamin D. The clinician should be aware of the low patients’ adherence with long-term supplements. In conclusion, vitamin D is a cheap and quite effective option to improve bone health with possible beneficial pleiotropic extra-skeletal effects.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"22 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple-autoimmune syndrome causing interstitial lung disease in the presence of pulmonary hypertension and Erasmus syndrome","authors":"David Corredor-Orlandelli, Camila Borda, Juan Sebastian Sierra, D. G. Fernández-Ávila","doi":"10.35465/31.4.2023.pp123-128","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp123-128","url":null,"abstract":"Connective tissue diseases constitute a group of inflammatory disorders that can concurrently affect multiple organs. Pulmonary manifestations of connective tissue diseases include interstitial lung disease, pulmonary hypertension, pleural diseases, and airway compromise. Both interstitial lung disease and pulmonary arterial hypertension have high morbidity and mortality in these patients. Interstitial lung disease affects 40 % - 50 % of patients with connective tissue diseases, predominantly systemic sclerosis, rheumatoid arthritis, and inflammatory myopathies. Parenchymal compromise is heterogeneous and depends on the underlying disease. Conversely, pulmonary arterial hypertension is found mostly in systemic sclerosis, systemic lupus erythematosus and mixed connective tissue disease. Delays and the diagnosis of connective tissue disorder associated interstitial lung disease are frequent as evidence is limited and as they often present concomitantly or overlap with other pulmonary diseases. Timely diagnosis and treatment are fundamental to decrease mortality. Treatment varies by the type of connective tissue disease, nevertheless, evidence of these complications in the context of multiple-autoimmune syndrome is still limited. \u0000We present a complex case of a 47-year-old male with a multiple-autoimmune syndrome (systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, Sjögren syndrome and mixed connective tissue disease) complicated by interstitial lung disease and pulmonary hypertension,   and occurring concurrently with silicosis (Erasmus syndrome), and pulmonary embolism. This case shows the diverse manifestations of connective tissue of the lungs, emphasizes the intricate nature of diagnosing and managing connective tissue disorder-related pulmonary complications in the context of multiple autoimmune syndromes, and the importance of a multidisciplinary team for the diagnostic and therapeutic approach of the patient.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"17 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Post-Covid-19 syndrome – a new challenge with an unknown end","authors":"V. Boyadzhieva, Jaklin Svetoslavova Doncheva - Dilova","doi":"10.35465/31.4.2023.pp78-94","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp78-94","url":null,"abstract":"The long-term effects of SARS-CoV-2 infection (or the so-called post - COVID - 19 syndrome) have a lasting physical, psycho-social and socio-iconic impact on survivors and their relatives and especially among some specific work groups (e.g. health workers).  Concomittant chronic diseases (obesity, hypertension, diabetes mellitus and respiratory disorders) also affect patients' ability to work and their return to work. Globally, between 30% and 50% of those infected with COVID-19 experience long-term symptoms of COVID (long Covid, LC), with over 85% of patients of working age. Various author collectives report that symptoms of long-term COVID (a total of 203 of which the most frequent are dyspnea on exertion and at rest, fatigue, cognitive dysfunction, asthenia, arthralgias and myalgias, sleep disorders, cough), which can last up to 9 and more months after an infection, hinder and delay the return to work (RTW), reduce the patients' ability to work, force them to return to work with restrictions (reduced working hours, changed duties at the workplace, etc.), to change their job or lose it. Returning to work after a post-critical illness is often delayed or does not occur at all, causing an impact on the overall quality of life among survivors and their families (the so-called \"family syndrome\"). Some patients (especially those who have had severe COVID or have been hospitalized in an intensive care unit) are forced to take periodic sick leave and delay their return to work for at least 5 weeks from the onset of symptoms of COVID-19, such as the main cause is fatigue or weakness. Social functioning was assessed as impaired, as up to 90% of survivors did not reach their functional level 6 months after intensive care unit (ICU) discharge. Differences in return to work are based on mean age of patients (better outcomes are seen in younger patients), country (presenteeism is common in China, where the best RTW outcomes have been reported) and social policy (not all US employees are entitled to paid sick leave). A large proportion of patients (up to 64.4%) reported moderate to severe financial difficulties and an inability to cover the costs of research or treatment. Some authors recommend specific rehabilitation for patients after acute COVID-19 to restore physical and neuropsychological performance and to improve performance. Patients have better outcomes following an integrative health approach that combines traditional medical treatment, non-pharmacological treatments including physical therapy, and behavioral and lifestyle changes.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"20 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of physical and mental components summary in patients with primary and secondary fibromyalgia","authors":"V. Reshkova, R. Rashkov, Simeon Monov","doi":"10.35465/31.4.2023.pp3-13","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp3-13","url":null,"abstract":"Fibromyalgia (FM) is widespread and covers different age groups, most commonly occurring between 20 and 50 years. Patients with rheumatic diseases - osteoarthritis (OA) and systemic lupus erythematosus (SLE), have an accompanying / secondary FM. The presence of secondary fibromyalgia in SLE and OA has been investigated by various authors and is found in approximately 20% of these patients. The purpose of this clinical trial is to analyze correlations under clinical manifestations of primary vs. secondary FM. The present study is prospective and has been performed at the Clinic of Rheumatology of the University Hospital “St. Ivan Rilski” and “Focus 5” Center, Sofia for the period September 2013 - September 2017. Eighty three patients with primary FM, 39 patients with FM + OA, 23 patients with FM + SLE, 27 patients with SLE and 36 healthy subjects were included. The present study analyse  the relationship of clinical manifestations and physical (PCS) and mental component summary (MCS) in patients with primary and secondary fibromyalgia (FM) compared with a control group of healthy volunteers. The obtained results prove that development of pain in FM to related of concomitant clinical symptoms. Impact of FM on daily functioning and Von Zerssen depression score to determine the physical component summary. Impact of FM on daily functioning - social functioning and HADS score for depression to determine the mental component summary","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"23 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The utility of USB microscope for assessment of Raynaud’s phenomenon patients in rheumatology practice","authors":"S. Lambova, N. Stoilov, V. Boyadzhieva","doi":"10.35465/31.4.2023.pp28-41","DOIUrl":"https://doi.org/10.35465/31.4.2023.pp28-41","url":null,"abstract":"The aim of the study was to assess the utility of USB microscope (DinoLite) for evaluation of patients with primary and secondary Raynaud’s phenomenon (RP) in rheumatic diseases, , using magnification 200x. \u0000Methods: The study represents retrospective analysis of capillaroscopic images of 53 patients with RP – primary and secondary in the context of systemic sclerosis (SSc) or other rheumatic diseases i.e., undifferentiated connective tissue disease (UCTD), prescleroderma and systemic lupus erythematosus (SLE). Capillaroscopic images are obtained from 8 fingers (II÷V bilaterally) using USB microscope (DinoLite) at magnification 200x. Capillary diameters were measured (arterial, venous and apical loop) as well as the number of capillaries per millimeter and capillary length. The capillaroscopic images were categorized into the following groups i.e., 1. absence of microangiopathy: i) normal pattern, ii) nonspecific changes; 2. presence of microangiopathy i.e., “scleroderma/ scleroderma-like” pattern. \u0000Results: Images suitable for analysis with good visibility that permit analysis of the major capillaroscopic parameters were available in all patients (100%). Among 53 included patients, 14 patients were with SSc, 12 cases with primary RP, and 27 patients with secondary RP in other connective tissue diseases  (22 patients with UCTD, 1 – with prescleroderma and 4 patients with SLE). „Scleroderma“ pattern was detected in 11 patients with SSc and in all these cases the capillaroscopic images were classifiable into one of the three distinct validated phases i.e., “early”, ”active” and ”late”. Presence of microvascular changes type “scleroderma-like” pattern was detected also in 17 among 27 patients with other connective tissue diseases. In primary RP patients, capillaroscopy revealed either normal pattern or nonspecific findings, but without features of microangiopathy. \u0000Conclusion: Capillaroscopic images of good quality, which could be analyzed and interpreted, are usually obtained using USB microscope. This permits evaluation of the major capillaroscopic parameters including quantitative measurement of the capillary diameters, capillary density and length. Assessment of the degree of microvascular changes i.e., staging of microangiopathy is also applicable and was possible in all cases with microangiopathy. The available software although less sophisticated vs those of videocapillaroscopes, providess the opportunity for adequate analysis of capillaroscopic parameters. The images obtained via USB microscope using magnification 200x are easily classified into “scleroderma”/“scleroderma-like” pattern, non-specific changes and normal findings using also the software of the device. Thus, USB microscopes using standard, 200x magnification could be suggested as an alternative of videocapillaroscopes in every day rheumatology practice especially in low-budget cases.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"20 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140396428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical case of patient with Cryopyrin-associated Periodic Syndrome (Muckle-Wells syndrome) and systemic lupus erhythematodes","authors":"V. Reshkova, Simeon Monov","doi":"10.35465/31.3.2023.pp88-95","DOIUrl":"https://doi.org/10.35465/31.3.2023.pp88-95","url":null,"abstract":"Muckle-Wells syndrome is a cryopyrin-associated periodic syndrome with an autosomal dominant transmission pattern. The disease characterized by episodes of step move. We present a clinical case a woman of 34-years old with cryopyrin-associated periodic syndrome (Muckle-Wells syndrome) and systemic lupus erhythematodes (SLE). Patient is a heterozygous carrier of a 3-nucleotide duplication in exon 3 of the NLRP3 gene (c.1315_1317dupGCG), inserting an alanine between amino acid positions 439 and 440 (p.Ala439dup). This mutation is a characteristic with Muckle-wells syndrome. From the clinical examination she has clinical symptoms of SLE with moderate activity from SLEDAI = 9 points (“malar rash”, arthritis, leucopenia with lymphopenia, elevated levels of ANA-antibodys and anti-dsDNA-antibodys). Patient was treatment with methylprednisolone 12 mg daily, methotrexate 15 mg weekly, colchicin 2 time of 0,5 mg daily. Over 3 months patient has partial improvement  of symptoms without full reduction. On the moment patient lives in Germany and has treatment with Anakinra with excellent results and good quality of life. In the literature is not found other with connection between cryopyrin-associated periodic syndrome (Muckle-Wells syndrome) and connective tissue disease.","PeriodicalId":380764,"journal":{"name":"Rheumatology (Bulgaria)","volume":"61 14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139001911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}