ReumatologiaPub Date : 2023-01-01DOI: 10.5114/reum/161575
Saoussen Miladi, Wiem Belhadj, Hiba Boussaa, Makhlouf Yasmine, Zakraoui Leith, Kawther Ben Abdelghani, Alia Fazaa, Ahmed Laatar
{"title":"Patient satisfaction with medication in rheumatoid arthritis: an unmet need.","authors":"Saoussen Miladi, Wiem Belhadj, Hiba Boussaa, Makhlouf Yasmine, Zakraoui Leith, Kawther Ben Abdelghani, Alia Fazaa, Ahmed Laatar","doi":"10.5114/reum/161575","DOIUrl":"https://doi.org/10.5114/reum/161575","url":null,"abstract":"<p><strong>Introduction: </strong>Shared decision-making between rheumatologists and patients has become an overarching principle in current treatment recommendations in rheumatoid arthritis (RA). Therefore, in the present study, we aimed to assess the satisfaction of patients with RA with their treatment and to investigate the associated factors.</p><p><strong>Material and methods: </strong>A cross-sectional study was carried out in the Rheumatology Department of Mongi Slim Hospital. We included adults with RA receiving their current disease-modifying anti-rheumatic drugs for at least 12 months.Satisfaction among patients was assessed by the Treatment Satisfaction Questionnaire for Medication (TSQM) and it was defined by a score ≥ 80%. The factors indirectly influencing patient satisfaction that were assessed were: satisfaction with medical care management, disease activity, functional impact, professional impact, and the impact of RA. Multivariable regression analysis was applied to determine the predictors of satisfaction.</p><p><strong>Results: </strong>We included 70 patients (63 female/7 male) with a mean age of 57.8 ±10.6 years. The mean disease duration was 13.71 ±7.2 years.Mean TSQM scores were 65.42 ±14.77 for convenience, 68.71 ±18 for effectiveness, 70.60 ±24.5 for side effects, and 67.95 ±17.10 for global satisfaction. Satisfaction rates were: 20% for convenience, 39% for effectiveness, 46% for side effects and 30% for global satisfaction.In multivariable analysis, the predictors of global dissatisfaction were Rheumatoid Arthritis Impact of Disease (RAID) overall score (<i>p</i> = 0.003) and the degree of physical difficulties (<i>p</i> = 0.001). Satisfaction with the physician was correlated with better global satisfaction (<i>p</i> = 0.029). Difficulties in adapting to RA (<i>p</i> = 0.043) and current treatment with biologics (<i>p</i> = 0.027) were predictors of dissatisfaction with convenience. Predictors of dissatisfaction with efficiency were the RAID overall score (<i>p</i> = 0.032) and the difficulties of adapting to RA (<i>p</i> = 0.013). The predictors of satisfaction with side effects were a lower degree of interference with domestic work (<i>p</i> = 0.02) and better involvement of the patient in the treatment decision (<i>p</i> = 0.014).</p><p><strong>Conclusions: </strong>The satisfaction with the attending physician, the participation in the treatment decision, and the impact of RA seem to influence treatment satisfaction the most. These data suggest that a better understanding of patients' medical needs and preferences would improve satisfaction outcomes.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7f/27/RU-61-161575.PMC10044033.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01Epub Date: 2023-10-31DOI: 10.5114/reum/172211
Iryna Golovach, Dmytro Rekalov, Oleh Ye Akimov, Heorhii Kostenko, Viktoriia Kostenko, Artur Mishchenko, Natalia Solovyova, Vitalii Kostenko
{"title":"Molecular mechanisms and potential applications of chondroitin sulphate in managing post-traumatic osteoarthritis.","authors":"Iryna Golovach, Dmytro Rekalov, Oleh Ye Akimov, Heorhii Kostenko, Viktoriia Kostenko, Artur Mishchenko, Natalia Solovyova, Vitalii Kostenko","doi":"10.5114/reum/172211","DOIUrl":"https://doi.org/10.5114/reum/172211","url":null,"abstract":"<p><p>Post-traumatic osteoarthritis (PTOA), a disorder of the synovium, subchondral bone, and cartilage that affects the entire joint, constitutes approximately 12% of all cases of symptomatic osteoarthritis. This review summarizes the pathogenetic mechanisms that underlie the positive influence of chondroitin sulphates (CSs) on PTOA as means of preventive and therapeutic treatment. Mechanisms of PTOA development involve chondrocytes undergoing various forms of cell death (apoptosis, pyroptosis, necroptosis, ferroptosis and/or necrosis). Chondroitin sulphates are a class of glycosaminoglycans that improve the structure and function of cartilage and subchondral bone, which is associated with their ability to decrease the activation of NF-κB and p38 MAPK, and up-regulate Nrf2. Standardized small fish extract (SSFE) is an example of the drugs that can attenuate NF-κB-mediated systemic inflammation, potentially helping to reduce joint inflammation and cartilage degradation, improve joint function, and alleviate pain and disability in patients with these conditions.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01Epub Date: 2023-10-31DOI: 10.5114/reum/173078
Vasiliki Syrmou, Maria G Grammatikopoulou, Dimitrios P Bogdanos, Konstantinos T Mitsimponas
{"title":"Temporomandibular joint disorders in seronegative spondyloarthritis: what a rheumatologist needs to know?","authors":"Vasiliki Syrmou, Maria G Grammatikopoulou, Dimitrios P Bogdanos, Konstantinos T Mitsimponas","doi":"10.5114/reum/173078","DOIUrl":"10.5114/reum/173078","url":null,"abstract":"<p><p>Temporomandibular joint (TMJ) can be affected in the context of spondyloarthritis (SpA) with detrimental impact on individuals' quality of life. Intra-articular inflammation, synovitis, enthesitis, disc displacement and cervical vertebrae malalignment are some of the pathophysiological phenomena involved. Temporomandibular joint disorders (TMD) incidence appears to be higher in patients with ankylosing spondylitis and psoriatic arthritis, especially when clinical evaluation includes not only imaging but relevant history, TMJ examination and diagnostic criteria for TMD. The Visual Analogue Scale (VAS) pain score and Health Assessment Questionnaire Disability Index (HAQ) quality of life score could be useful tools. Panoramic radiographs and ultrasound can be used for screening but in symptomatic patients magnetic resonance imaging (MRI) is preferable. Conservative management and early pharmacological treatment can prevent permanent joint impairment. For refractory cases, early referral to Legislation for Oral and Maxillofacial Surgery (OMFS) specialists is indicated. The aim of this narrative review is to address the involvement of TMJ in SpA and to encourage clinicians to incorporate TMJ assessment in their physical examination and basic screening.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01DOI: 10.5114/reum/161299
Ana Sofia Pinto, Filipe Cunha Santos, Sara Paiva Dinis, Nathalie Madeira, Joana Fonseca Ferreira, Claúdia Vaz
{"title":"Systemic sclerosis and rheumatoid arthritis overlap syndrome - management of severe cardiac, pulmonary and articular involvement.","authors":"Ana Sofia Pinto, Filipe Cunha Santos, Sara Paiva Dinis, Nathalie Madeira, Joana Fonseca Ferreira, Claúdia Vaz","doi":"10.5114/reum/161299","DOIUrl":"https://doi.org/10.5114/reum/161299","url":null,"abstract":"Introduction The presence of another rheumatological condition in patients with systemic sclerosis (SSc) is not uncommon. To report a case of a patient with SSc-RA overlap and perform a review of the cases reported in the literature. Material and methods A chart review of the present case report was performed. After, we performed a literature search in MEDLINE, EMBASE and Cochrane databases. Results We included 26 articles. Sixty-three patients were reviewed, 51 were female with a mean age of 45.03 years at the time of the first diagnosis. Sixty-three patients were diagnosed with limited cutaneous SSc. Regarding organ involvement, the most frequently reported were cutaneous, vascular, pulmonary and gastrointestinal involvement. Erosions were presenting 65.08% of patients. A panoply of treatments was used. Conclusions The authors concluded that screening for an associated disease should be encouraged since the overlap with SSc may affect prognosis and treatment.","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/27/ea/RU-61-161299.PMC10044038.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01Epub Date: 2023-08-31DOI: 10.5114/reum/169889
Dorota Leszczyńska, Alicja Szatko, Lucyna Papierska, Wojciech Zgliczyński, Piotr Glinicki
{"title":"Musculoskeletal complications of Cushing syndrome.","authors":"Dorota Leszczyńska, Alicja Szatko, Lucyna Papierska, Wojciech Zgliczyński, Piotr Glinicki","doi":"10.5114/reum/169889","DOIUrl":"https://doi.org/10.5114/reum/169889","url":null,"abstract":"<p><p>Prolonged exposure to an excess of glucocorticosteroids (GCs), both endogenous and exogenous, leads to a wide range of comorbidities, including cardiovascular, metabolic, psychiatric, and musculoskeletal disorders. The latter comprise osteopenia and osteoporosis leading to skeletal fractures and myopathy. Although endogenous hypercortisolemia is a rare disorder, GCs are among the most frequently prescribed drugs, often administered chronically and despite multiple side effects, impossible to taper off due to therapeutic reasons. The pathophysiology of the effect of GC excess on bone often leads to fractures despite normal or low-normal bone mineral density and it includes direct (mainly disturbance in bone formation processes, through inactivation of the Wnt/β-catenin signalling pathway) and indirect mechanisms (through suppressing the gonadal and somatotrophic axis, and also through antagonizing vitamin D actions). Glucocorticosteroid-induced fast-twitch, glycolytic muscles atrophy occurs due to increased protein catabolism and impaired synthesis. Protein degradation is a result of activation of the ubiquitin proteasome and the lysosomes stimulated through overexpression of several atrogenes (such as FOXO-1 and atrogin-1). This review will discuss pathophysiology, clinical presentation, prevention, and management of GC-induced osteoporosis (including calcium and vitamin D supplementation, and bisphosphonates) and myopathy associated with GC excess.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/20/35/RU-61-169889.PMC10515123.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41177021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Epidemiology of low back pain: frequency, risk factors, and patterns in South-South Nigeria.","authors":"Airenakho Emorinken, Cyril Oshomah Erameh, Blessyn Omoye Akpasubi, Mercy Ofunami Dic-Ijiewere, Asuwemhe Johnson Ugheoke","doi":"10.5114/reum/173377","DOIUrl":"https://doi.org/10.5114/reum/173377","url":null,"abstract":"<p><strong>Introduction: </strong>Low back pain (LBP) is a prevalent musculoskeletal condition that poses significant public health challenges. However, its epidemiology in Sub-Saharan Africa, especially in rural settings, remains largely unexplored. This study aimed to determine the epidemiology of LBP in a Nigerian Teaching Hospital.</p><p><strong>Material and methods: </strong>This was a retrospective review of the records of all LBP cases seen at the rheumatology clinic from 2018 to 2022 in a Teaching Hospital in South-South Nigeria. The sociodemographic and clinical data, including disability scores, was extracted from the patients' medical records. The data was analyzed using IBM SPSS version 25, and the level of significance was set at <i>p</i> < 0.05.</p><p><strong>Results: </strong>Among 1,580 patients, 319 (20.2%) reported LBP. The mean age was 59.51 ±10.21, and the peak age incidence was 51-60 years. Low back pain was more prevalent in females (61.4%). Work-related factors (47.3%) such as heavy lifting (26.3%), prolonged sitting (19.4%), and poor posture (27.9%) were the prominent risk factors. Sedentary behavior (11.5%) and obesity (16.9%) contributed. Common clinical manifestations included difficulty standing or bending (73%), walking difficulties (67.7%), sleep disturbances (51.4%), and radicular pain (45.8%). Common etiologies were spondylosis (66.5%), spondylolisthesis (22.3%), disc prolapse (19.4%), spinal canal stenosis (15.4%), muscle spasm (12.2%), and tuberculous spondylitis (9.7%). Acute and chronic LBP constituted 12.2% and 79.9% of cases, respectively. In terms of disability, 33.5% had minimal, 44.5% had moderate, 15.4% had severe, and 6.6% had crippling disabilities.</p><p><strong>Conclusions: </strong>Mechanical causes were the most implicated in LBP. Work-related factors and lifestyle choices contribute to the occurrence of LBP. Adjusting posture and lifestyle modification reduces LBP risk. Understanding its epidemiology is crucial for optimizing care and implementing preventive strategies.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01Epub Date: 2023-08-31DOI: 10.5114/reum/170845
Elvis Hysa, Tamara Vojinovic, Emanuele Gotelli, Elisa Alessandri, Carmen Pizzorni, Sabrina Paolino, Alberto Sulli, Vanessa Smith, Maurizio Cutolo
{"title":"The dichotomy of glucocorticosteroid treatment in immune-inflammatory rheumatic diseases: an evidence-based perspective and insights from clinical practice.","authors":"Elvis Hysa, Tamara Vojinovic, Emanuele Gotelli, Elisa Alessandri, Carmen Pizzorni, Sabrina Paolino, Alberto Sulli, Vanessa Smith, Maurizio Cutolo","doi":"10.5114/reum/170845","DOIUrl":"10.5114/reum/170845","url":null,"abstract":"<p><strong>Objectives: </strong>Glucocorticosteroids (GCs) are the most used anti-inflammatory and immunosuppressive drugs due to their effectiveness in managing pain and disease modification in many immune-inflammatory rheumatic diseases (IRDs). However, their use is limited because of adverse effects (AEs).</p><p><strong>Material and methods: </strong>The authors analyzed recent studies, including randomized controlled trials (RCTs), observational, translational studies and systematic reviews, providing an in-depth viewpoint on the benefits and drawbacks of GC use in rheumatology.</p><p><strong>Results: </strong>Glucocorticosteroids are essential in managing life-threatening autoimmune diseases and a cornerstone in many IRDs given their swift onset of action, necessary in flares. Several RCTs and meta-analyses have demonstrated that when administered over a long time and on a low-dose basis, GC can slow the radiographic progression in early rheumatoid arthritis (RA) patients by at least 50%, satisfying the conventional definition of a disease-modifying anti-rheumatic drug (DMARD). In the context of RA treatment, the use of modified-release prednisone formulations at night may offer the option of respecting circadian rhythms of both inflammatory response and HPA activation, thereby enabling low-dose GC administration to mitigate nocturnal inflammation and prolonged morning fatigue and joint stiffness. Long-term GC use should be individualized based on patient characteristics and minimized due to their potential AEs. Their chronic use, especially at medium/high dosages, might cause irreversible organ damage due to the burden of metabolic systemic effects and increased risk of infections. Many international guidelines recommend tapering/withdrawal of GCs in sustained remission. Treat-to-target (T2T) strategies are critical in setting targets for disease activity and reducing/discontinuing GCs once control is achieved.</p><p><strong>Conclusions: </strong>Glucocorticosteroids' use in treating IRDs should be judicious, focused on minimizing use, tapering and discontinuing treatment, when possible, to improve long-term safety. Glucocorticosteroids remain part of many therapeutic regimens, particularly at low doses, and elderly RA patients, especially with associated chronic comorbidities, may benefit from long-term low-dose GC treatment. A personalized GC therapy is essential for optimal long-term outcomes.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/44/17/RU-61-170845.PMC10515127.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41141321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Red cell distribution width and neutrophil-lymphocyte ratio as inflammatory markers in patients with rheumatoid arthritis.","authors":"Shekhar Kushwaha, Reshma Kaushik, Rajesh Kakkar, Rajeev Mohan Kaushik","doi":"10.5114/reum/161286","DOIUrl":"https://doi.org/10.5114/reum/161286","url":null,"abstract":"<p><strong>Introduction: </strong>The aim was to study the red cell distribution width (RDW) and neutrophil-lymphocyte ratio (NLR) as inflammatory markers and their correlation with clinical disease activity parameters in patients with rheumatoid arthritis (RA).</p><p><strong>Material and methods: </strong>This observational cross-sectional study included 100 randomly selected patients with RA. Disease Activity Score with 28-joint counts and erythrocyte sedimentation rate (DAS28-ESR) was taken as a marker of disease activity. The diagnostic value of NLR and RDW in RA was assessed.</p><p><strong>Results: </strong>The majority (51%) of cases showed mild disease activity. The mean NLR in cases was 3.88 ±2.59. Mean RDW was 16.25 ±2.49%. Neutrophil-lymphocyte ratio significantly correlated with ESR (<i>p</i> = 0.026), severity of pain (<i>p</i> = 0.013), osteoporosis (<i>p</i> = 0.014) and radiographic joint erosions (<i>p</i> = 0.048), but not with DAS28-ESR (<i>p</i> > 0.05) and C-reactive protein (CRP) (<i>p</i> > 0.05). Red cell distribution width showed a significant correlation only with NLR (<i>p</i> = 0.009). The positive predictive values of NLR and RDW for disease activity were 93.3% and 90% and the negative predictive values were 20% and 16.7% respectively. For NLR, the area under the curve (AUC) was 0.78 (<i>p</i> = 0.001) and at a cut-off value of 1.63, the diagnostic sensitivity was 97.7% and specificity 50%. For RDW, the AUC was 0.43 (<i>p</i> = 0.40) and at a cut-off value of 14.52, the diagnostic sensitivity was 70.5% and specificity 41.7%. The sensitivity and specificity of NLR were higher than those of RDW. A significant difference was seen between the AUC of NLR and RDW (<i>p</i> = 0.02).</p><p><strong>Conclusions: </strong>Neutrophil-lymphocyte ratio is a valuable inflammatory marker in patients with RA, but RDW is not useful in this regard.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8a/9e/RU-61-161286.PMC10044029.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9225978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01DOI: 10.5114/reum.2023.124878
Shakiba Hassanzadeh, Mohammad Bahadoram, Karim Mowla
{"title":"Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa.","authors":"Shakiba Hassanzadeh, Mohammad Bahadoram, Karim Mowla","doi":"10.5114/reum.2023.124878","DOIUrl":"https://doi.org/10.5114/reum.2023.124878","url":null,"abstract":"<p><p>Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the <i>ADA2</i> gene. Deficiency of adenosine deaminase 2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatment of choice in DADA2 is tumor necrosis factor α inhibitors. We aimed to provide an overview of the known pathophysiology, clinical presentations, diagnosis, and treatment of DADA2. A clearer knowledge of DADA2 may help to better diagnose, manage, and improve the clinical outcome of DADA2 patients. However, further studies are required to investigate the genotype-phenotype associations and exact pathophysiology of DADA2.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/28/1f/RU-61-152721.PMC10044036.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ReumatologiaPub Date : 2023-01-01DOI: 10.5114/reum/157590
Kushagra Gupta, Ajay Mahajan
{"title":"Swollen hands and feet syndrome: a rare occurrence.","authors":"Kushagra Gupta, Ajay Mahajan","doi":"10.5114/reum/157590","DOIUrl":"https://doi.org/10.5114/reum/157590","url":null,"abstract":"Dear Editor, A 48-year-old-man, daily wage laborer by profession, came to the out-patient department with complaints of swelling in hands along with decreased sensation in arms and feet distal to elbow and knees, respectively, for the past 3 months. There was no associated pain. There was no history of fever, weight loss or any recent episode of infection or trauma. The patient was a regular smoker and consumed alcohol occasionally; dietary habits were normal. Family history was unremarkable. The patient was examined and found to have non-pitting edema over the dorsum of the hands which extended beyond the joint line (Fig. 1A, 1B). There was no obvious tenderness. Deep tendon reflexes were preserved, and the rest of the motor examination was within normal limits. The patient had multiple hypopigmented macular patches over the back with overlying sensory loss (Fig. 1C). The routine investigations including complete blood count, liver and renal function tests were normal. The inflammatory parameters (erythrocyte sedimentation rate and C-reactive protein) were also within normal limits; thyroid profile and vitamin levels (to rule out nutritional deficiencies) also came back normal. Autoimmune workup was also negative for rheumatoid factor (RF), anti-citrullinated protein antibody (ACPA) and anti-nuclear antibody (ANA). Ultrasound examination showed presence of tenosynovitis. A clinical suspicion for leprosy was maintained and on thorough review of the patient, the peripheral nerves (including the ulnar nerve and common peroneal nerve) were found to be thickened and palpable. Slit skin smear was obtained to confirm the diagnosis, which showed presence of Mycobacterium leprae. A diagnosis of multibacillary leprosy with tenosynovitis of the hands was made and the patient was started on dapsone and clofazimine daily along with rifampicin once a month (multidrug therapy). The patient gradually showed improvement with resolution of swelling and no further progression of lesions. Leprosy is an infectious disease caused by Mycobacterium leprae that mainly affects skin and peripheral nerves. The majority of the cases are reported from India, Brazil, Bangladesh, Nepal and Indonesia [1]. Outside the endemic regions, leprosy has been reported to be associated with exposure to armadillos [2]. The disease is classified on the basis of the immune response mounted against the organism. At one end of spectrum lies tuberculoid leprosy (paucibacillary), which is characterized by a robust immune response against the bacillus and formation of granulomas and limited spread of the disease. At the other end lies lepromatous leprosy (multibacillary), which is characterized by a weak response against the bacillus resulting in disseminated disease. Clinical manifestations include hypopigmented patches on the skin with sensory loss, collapsed nose and peripheral nerve involvement resulting in tender palpable nerves, paraesthesia and foot drop. Musculoskeletal involvement in le","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c3/a1/RU-61-157590.PMC10044032.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9278576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}