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Background: Axial Spondyloarthritis (axSpA) is a chronic inflammatory rheumatic condition affecting the axial skeleton, leading to pain, stiffness, and fatigue. While biologic therapies have improved clinical management, many patients experience partial or no responses, resulting in delays in disease control. Additionally, the risk of adverse events and increased costs remains a concern., Objectives: Our primary objectives are: 1. to identify reliable markers for treatment response to Tumor Necrosis Factor alpha inhibitors (TNFi), in particular Adalimumab, enabling the identification of individuals most likely to benefit; 2. to analyze the impact of TNFi on gene and protein expression., Methods: A multicenter, prospective 14-week study will be conducted with 36 participants aged 18-75 years, meeting the ASAS criteria for axSpA. Patient enrollment will follow the National Guidelines for the use of TNFi in axSpA treatment, with all included patients using TNFi (Adalimumab) as a first-line option. Epidemiological and clinical data will be collected, along with peripheral blood samples, for integrated transcriptome, using RNA Seq (whole genome sequencing) and proteome analysis at various time points (baseline, 3-5 days, weeks 2 and 14), corresponding to the initial administration of TNFi. Patients will be classified as responders and non-responders, primarily based on ASAS20 criteria and secondarily based on ASDAS-C Reactive Protein (CRP), at week 14., Discussion: This project's innovative approach lies in identifying potential biomarkers for TNFi (Adalimumab) response at baseline, paving the way for advancements in precision medicine in this field. Additionally, it seeks to establish evidence of the therapy's impact on gene and protein expression, offering deeper insights into the pathophysiological mechanisms underlying the therapeutic response.

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disorder which may affect the gastrointestinal system. Half of the patients with SLE experience gastrointestinal symptoms, with the most common being nausea, vomiting, anorexia, and abdominal pain. Mesenteric vasculitis is a severe and rare complication of SLE and one of the most frequent causes of severe acute abdominal pain. The authors present a case of a 57-year-old woman with SLE who was diagnosed with necrotizing mesenteric vasculitis following a urinary septic shock. The patient was treated with high-dose corticosteroid therapy and cyclophosphamide, with resolution of the clinical picture.

Hypereosinophilia is unusual in rheumatoid arthritis (RA), but can occur in severe long-lasting disease, especially in patients with extra-articular manifestations and high titers of rheumatoid factor (RF). The association of RA and hypereosinophilic syndrome (HES) remains yet poorly known. We present a case of a 46 years old woman with long-standing untreated RA, that presented to emergency department with severe symptoms of constrictive pericarditis with cardiac tamponade and bilateral pleural effusion, that progressed to cardiac arrest, associated to symmetrical polyarthritis and pruritic erythematous skin papules. She was submitted to urgent pericardial drainage and partial pericardiotomy. Laboratory analyses revealed hypereosinophilia, and elevated inflammatory parameters and immunoglobulin E. The histological study of the pericardium showed results consistent with inflammatory fibrinous pericarditis. Taking into account the presence of some characteristics that are usually present in cases of reactive HES instead of idiopathic HES, and after an intensive diagnostic study, that could rule out other potential causes of secondary HES, the diagnosis of HES associated with RA was made. She started glucocorticoids during hospitalization and methotrexate 15mg per week at the first outpatient rheumatology visit. After 12 weeks of treatment, we considered that she was in clinical and analytical remission, consistently maintaining that after a complete tapering of glucocorticoids. This case illustrates that clinicians should be aware that HES (including severe life-threatening cases) can occur in patients with RA, especially in cases of long-lasting disease with high titters of RF and without treatment, even in the absence of extra-articular features.

Cytomegalovirus (CMV) infection is a common and typically benign disease in immunocompetent individuals. However, immunocompromised patients are at a greater risk of reactivation, leading to more severe outcomes. Patients with rheumatic diseases have a particularly high risk of opportunistic infections due to both the inherent immunosuppressive state conveyed by the disease itself and the use of potent immunosuppressant drugs, such as glucocorticoids, cyclophosphamide, and rituximab. Limited data are available regarding prophylactic or preemptive treatment of CMV infection in patients with rheumatic diseases. In this article the authors present two cases of rheumatic conditions complicated by CMV infection. The first case describes a patient with eosinophilic granulomatosis with polyangiitis, previously treated with glucocorticoids and cyclophosphamide, who developed CMV colitis with bowel perforation. The second case involves a woman with systemic lupus erythematosus who was diagnosed with CMV meningitis. Both cases reinforce the importance of establishing guidelines for surveillance and prophylaxis of CMV infection in these patients.

Objectives: Chronic low back pain (CLBP) is a common health problem and in most patients it is not possible to identify a specific cause (non-specific CLBP). Spondyloarthritis is a musculoskeletal disorder characterized by (often inflammatory) back pain and spinal stiffness. The impact of CLBP and spondyloarthritis on patients' physical function may be different. This study aims to compare physical disability in patients with spondyloarthritis and CLBP, in a population-based setting. Furthermore, we aim to identify modifiable risk factors for physical disability among these two populations., Methods: Data from EpiReumaPt, a national health cohort with 10 661 individuals, conducted from September 2011 to December 2013, was used. Physical function was accessed by the Health Assessment Questionnaire Disability Index (HAQ-DI) and by the physical function dimension of the 36-Item Short Form Survey (SF-36). Univariable and multivariable linear regression analyses were used to assess the differences between groups. Factors associated with physical disability were explored for both diseases., Results: We evaluated 92 patients with spondyloarthritis, 1376 patients with CLBP and 679 subjects without rheumatic and musculoskeletal diseases (RMDs). Spondyloarthritis and CLBP patients reported significantly higher levels of disability in HAQ-DI (ß=0.33; p < 0.001 and ß=0.20; p < 0.001, respectively) than subjects without RMDs. In comparison to CLBP patients, spondyloarthritis patients reported higher disability (ß=0.14; p=0.03). The physical domains of SF-36, bodily pain and general health, where more affected in spondyloarthritis patients than in CLBP patients (ß=-6.61; p=0.02 and ß=-5.94; p=0.001, respectively). Spondyloarthritis and CLBP patients had a worse physical summary score (PCS) than mental summary score (MCS), and only PCS was significantly worse in comparison to subjects without RMDs. Factors associated with physical disability in CLBP were low back pain intensity, older age, obesity, multimorbidity, and retirement. Similarly, in spondyloarthritis physical disability was associated with retirement and multimorbidity. Factors associated with lower disability were alcohol consumption and male gender in CLBP, and regular physical exercise was associated with lower disability in both disorders., Conclusions: In this nationwide cohort, spondyloarthritis and CLBP patients reported significant physical disability. Regular physical exercise was associated with lower disability in both diseases.

Arthritis in the paediatric population is the hallmark of many rheumatic inflammatory diseases, as well as other cutaneous, infectious, or neoplastic conditions. It can be quite devastating, whereby prompt recognition and treatment of these disorders are essential. However, arthritis can sometimes be mistaken for other cutaneous or genetic conditions leading to misdiagnosis and overtreatment. Pachydermodactyly is a rare and benign form of digital fibromatosis, usually manifested by swelling of the proximal interphalangeal joints of both hands, mimicking arthritis. The authors report a case of a 12-year-old boy with a one-year history of painless swelling of the proximal interphalangeal joints of both hands that was referred to the Paediatric Rheumatology department due to the suspicion of juvenile idiopathic arthritis. The diagnostic work-up was unremarkable, and the patient remained asymptomatic over an 18-month follow-up period. A diagnosis of pachydermodactyly was assumed and no treatment was introduced, given the benign nature of the disorder and absence of symptoms. Therefore, it was possible to safely discharge the patient from the Paediatric Rheumatology clinic.

Aim: To estimate the disease specific prevalence of undiagnosed rheumatic and musculoskeletal diseases (RMDs) in Portugal and determine if people with undiagnosed RMDs have worse quality of life, physical function and higher health resources consumption, than people without RMDs., Methods: A subgroup analysis of EpiReumaPt was made that included all participants≥18 years evaluated by a rheumatologist. Participants were stratified into three groups: undiagnosed RMDs; previously diagnosed RMDs; non-RMDs. A descriptive analysis of the three groups was performed. To estimate the prevalence of undiagnosed RMDs, weighted proportion were computed considering the sample design. The three groups were compared (Undiagnosed RMDs vs non-RMDs; Previously diagnosed RMDs vs non-RMDs) for health related quality of life (HRQoL) (EQ5D), physical function (HAQ), mental health (HADS) and health resources consumption. The effect of being undiagnosed for these outcomes was assessed in multivariable models adjusted for age, gender, geographical region and years of education (reference: non-RMD)., Results: A total of 3877 participants were included. The prevalence of undiagnosed RMDs was 29%. Compared to participants without RMDs, undiagnosed participants had lower HRQoL (EQ-5D: β (95% CI)=-0.07 (-0.103,-0.043)) and physical function (HAQ: β (95% CI)=0.10 (0.05, 0.15)), more anxiety (OR (95% CI)=2.3 (1.4, 3.7)) and depression symptoms (OR (95% CI)=1.4 (0.8, 2.4)). Undiagnosed RMDs participants were more likely to visit an orthopedist (OR (95% CI)=2.0 (1.1, 3.5)) and had a higher number of orthopedic appointments (IRR (95% CI)=2.5 (1.3, 4.9)) than participants without RMDs., Conclusion: Patients with undiagnosed RMDs are frequent in Portugal, have worse HRQoL, physical function and mental health than people without RMDs. Undiagnosed patients are nonetheless consumers of health resources and tend to seek help from specialties other than rheumatology. Increasing the awareness of RMDs might promote their early identification and treatment leading to both personal and societal benefits.

Background: Methotrexate (MTX) is an anti-folate drug with anti-proliferative and anti-inflammatory effects. MTX proved to be the most highly effective, fast-acting disease modifying anti-rheumatic drug (DMARD), being widely used for the treatment of rheumatoid arthritis (RA). This review aims to describe the main genetic variants identified concerning proteins that play a role in methotrexate's kinetics and efficiency profile., Methods: A literature review was conducted since January of 2000 until December 2020, by searching the PubMed and Embase bibliographic databases, employing the following MeSH terms: methotrexate, pharmacogenetics, pharmacokinetics, and rheumatoid arthritis. The search was limited to articles in English language. Two independent reviewers screened the titles and abstracts followed by a full-text review to assess papers regarding their eligibility. A total of 48 articles matched the research criteria and were analyzed., Results: Reduced folate carrier 1 (RFC1), a constitutively expressed folate transport protein that has high affinity for MTX is responsible, almost exclusively, for the transport of folate and MTX into the cell. The most studied variant of the gene is the 80G&gt;A variant, mapped within exon 2, on chromosome 21. It seems to improve RA responses to MTX, clinical efficacy with long disease remission. ABC transporters are involved in the efflux of MTX from cells. An increased expression and function of these transporters should decrease MTX concentrations in target cells, resulting in lack of therapeutic response. ABCB1 3435 C/T is a high frequency polymorphism, significantly associated with RA good responses, symptom remission and reduced adverse events, due to MTX treatment. Thymidylate synthase (TYMS) is involved in thymidine synthesis. MTX decreases TYMS activity by inhibition and decreasing the access to tetrahydrofolate (THF) cofactors. The most common genetic variant of the TYMS gene consists of a 28 bp tandem repeat, with double and triple number of repeats (2R and 3R). The 3R allele genotype was associated with decreased efficacy and increased toxicity. The 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme is indirectly inhibited by MTX. The most common SNPs of the MTHFR gene are C677T and A1298C. Both are associated with a decreased efficacy and an increased toxicity of MTX., Conclusion: MTX response is affected by many gene variants; the effect of each variant separately is likely to be small. Additionally, gene-gene interaction seems to enhance the potential role of linkage disequilibrium. This shows the emerging need for a better gene characterization and to improve the knowledge about variants distribution according to ethnicity, to explain different responses to MTX at an individual level.

Introduction: Hand osteoarthritis (HOA) is a prevalent rheumatic disease that may cause significant disability. The Functional index for HOA (FIHOA) is a validated questionnaire to evaluate loss of function in patients with HOA., Objective: To undertake a cross-cultural adaptation and validation of FIHOA into Portuguese., Patients and Methods: First, the original French version of FIHOA had been forward-backward translated into Portuguese, according to the guidelines for cross-cultural adaptation. Secondly, patients with primary HOA were consecutively recruited in three Portuguese rheumatology outpatient clinics between May 2016 and April 2018. The final consensual Portuguese version of FIHOA was administered to 52 patients. A numerical rating scale (NRS - 0 to 100mm) for hand pain and for perceived hand dysfunction was also registered. Ten randomly selected patients were re-administered the same tools 5 to 15 days later. Internal consistency, test-retest reliability, internal construct validity and external validity related to dysfunction NRS were evaluated., Results: Fifty-two patients were evaluated: all right-handed, 96% women, mean age of 63 (10) years and 8 (6) years of disease duration. Mean (SD) pain and dysfunction were 47 (25) and 46 (25), respectively, with 68% patients being symptomatic. Mean (SD) FIHOA was 7 (5). Cronbach's alpha for internal consistency was high and adequate (0.87) and corrected item-total correlation revealed adequate performance. For reliability, Spearman's rho coefficient was 0.88 and total intraclass correlation coefficient (ICC) between test and retest was 0.87, showing good reliability. Factor analysis revealed three factors accounting for 71% of the variance of the score, with the first one (including questions 1, 2, 3 and 10) being responsible for 47% of the variance. Spearman's rho between FIHOA and dysfunction NRS was 0.5, showing a moderate but significant correlation and moderate external validity., Conclusion: The Portuguese version of FIHOA is a consistent, reliable, and valid instrument to measure loss of function in HOA Portuguese patients.

Cat scratch disease (CSD) is a zoonosis caused by Bartonella henselae, which is usually transmitted to humans through scratches or bites from infected cats. It is primarily a disease of children and adolescents, although it can affect individuals of any age. In approximately 10% of cases, patients can present atypical manifestations that may involve the musculoskeletal system. Herein, we report a case of a healthy 51-year-old man that developed low-grade fever and regional lymphadenopathy, followed by erythema nodosum and oligoarthritis. He had been scratched and bitten by his cat before the onset of symptoms. The diagnosis was confirmed serologically by the presence of high titers of specific IgG antibodies. Bartonella henselae was also detected in the blood of the owner's cat by PCR and DNA sequencing.

Background: Axial Spondyloarthritis (axSpA) is a chronic, inflammatory rheumatic disease that affects the axial skeleton, causing pain, stiffness, and fatigue. Genetics and environmental factors such as microbiota and microtrauma are known causes of disease susceptibility and progression. Murine models of axSpA found a decisive role for biomechanical stress as an inducer of enthesitis and new bone formation. Here, we hypothesize that muscle properties in axSpA patients are compromised and influenced by genetic background., Objectives: To improve our current knowledge of axSpA physiopathology, we aim to characterize axial and peripheral muscle properties and identify genetic and protein biomarker that might explain such properties., Methods: A cross-sectional study will be conducted on 48 participants aged 18-50 years old, involving patients with axSpA (according to ASAS classification criteria, symptoms duration < 10 years) and healthy controls matched by gender, age, and levels of physical activity. We will collect epidemiological and clinical data and perform a detailed, whole body and segmental, myofascial characterization (focusing on multifidus, brachioradialis and the gastrocnemius lateralis) concerning: a) Physical Properties (stiffness, tone and elasticity), assessed by MyotonPRO®; b) Strength, by a dynamometer; c) Mass, by bioimpedance; d) Performance through gait speed and 60-second sit-to-stand test; e) Histological and cellular/ molecular characterization through ultrasound-guided biopsies of multifidus muscle; f) Magnetic Resonance Imaging (MRI) characterization of paravertebral muscles. Furthermore, we will perform an integrated transcriptomics and proteomics analysis of peripheral blood samples., Discussion: The innovative and multidisciplinary approaches of this project rely on the elucidation of myofascial physical properties in axSpA and also on the establishment of a biological signature that relates to specific muscle properties. This hitherto unstudied link between gene/protein signatures and muscle properties may enhance our understanding of axSpA physiopathology and reveal new and useful diagnostic and therapeutic targets.

Background: Hand osteoarthritis (HOA) is a highly prevalent rheumatic disease that predominates in females and causes pain and loss of functional capacity. Obesity and metabolic syndrome have been previously suggested to associate with the severity of HOA, but clarity on these associations is yet to be achieved., Objective: Test the association between obesity and other components of the metabolic syndrome and disability in women with hand osteoarthritis (HOA)., Design: Individuals from EpiReumaPt epidemiological community-based study (2011-2013) are representative of the Portuguese population. Women with diagnosis of primary HOA were included., Primary Outcome: hand functional status, assessed by Cochin questionnaire., Secondary Outcomes: hand pain, assessed by visual analogue scale and tender hand joint count (THJ). Explanatory variables: obesity, diabetes mellitus, arterial hypertension and hypercholesterolemia. Possible associations between obesity and the other components of metabolic syndrome with Cochin score, hand pain and THJ were tested in a multivariable linear regression model. Potential confounders considered: age, education level and countrywide distribution., Results: 473 women with primary HOA were included. Forty percent were overweight and 29% obese. Ninety-three (19.8%) participants had diabetes, 261 (55.8%) reported hypertension and 261 (55.9%) hypercholesterolemia. Mean Cochin score was 15.5±14.8, mean pain VAS was 4.7±2.6 and mean THJ 1.4±3. In the multivariable analysis, obesity (β 4.6 CI 0.7;8.5) and diabetes (β 4.0 CI 0.4;7.6) were found to significantly associate with HOA functional disability. In addition, diabetes, but not obesity, associated with hand pain. There was no association between obesity or diabetes with THJ., Conclusion: In a Portuguese female population with primary HOA, obesity and diabetes mellitus independently associated with a worse hand functional status. These data add to evidence suggesting a role of metabolic factors in the severity of HOA.

Objective: Biobanks for research (BBR) have enormous value for research, including those specifically oriented to chronic diseases. Knowing public attitudes and perceptions is key to design and implement patient-centered BBR. We assessed patient awareness, perception and choices among rheumatology outpatients regarding aging biobanking activities., Methods: We conducted a cross-sectional survey of patients, aged 50 or older, attending an outpatient rheumatology tertiary department. Demographic data and perceptions about biobanking were collected and statistical analysis was performed., Results: 132 valid questionnaires were obtained (mean age: 63,4; 68,2% female; mean education years: 8,35). 61,7% of respondents did not know the specific term "biobank", 57,7% knew they could donate biological material for BBR, 89,9% agreed with these infrastructures and 88,3% would consider participation Those participants with more years of education were more knowledgeable and prone to biobank participation. Willingness to participate in BBR was mainly related (86,4%) to the advancement of scientific knowledge and not individual gain. Scientific research institutes were indicated as the most adequate institutions to manage BBR. Informed consent, anonymity and confidentiality ranked as top requisites for biobank participation. 61,3% of respondents expressed their agreement with aging biobanks, considering these as a sign of respect for specific problems of people of older ages such as higher disease burdens., Conclusion: Knowledge of biobanks was found to be limited. Participants were positive toward the setting up of biobanks in general and patient-centered aging biobanks in particular. Knowledge about biobanks and acceptance were higher among participants with higher education years.

Objective: The human resting myofascial tone maintains the body tone in a neutral posture, the assessment of this and other muscle physical properties (MPP) is relevant, since, it is altered in many pathological states., Patients and Methods: Seventeen healthy subjects (8 males), between 18-50 years old, were assessed. The MPP of lower lumbar muscles was evaluated on right and left sides during prone resting position using two devices; myotonometry (stiffness, elasticity and tone) and ultrasound-based shear-wave elastography (SWE) (shear modulus). MTM measurements were performed at two anatomic points (ANp), selected by an experienced reader and at an adjacent ultra-sound determined point (USp). Myotonometry measurements of the erector spinae and SWE measurements of multifidus muscles at the L3-4 level were compared between genders and sides. The intra-reader reliability (IRR) for each device and correlations between techniques were analysed. MTM measurements performed at ANp and USp were compared. The intraclass correlation coefficient (ICC) was assessed for both devices. Correlations between stiffness (myotonometry) and shear modulus (SWE) at the respective muscle depths were assessed with Spearman correlation., Results: Males had greater stiffness and tone than females, particularly on the dominant side. MPP assessed by myotonometry were not different between ANp and USp. Good/Excellent IRR was documented for measurements by MTM (ICC≥0.90) and SWE (ICC≥0.85). No correlation in myotonometry stiffness and SWE shear modulus was found. For myotonometry assessments, the addition of ultrasonography was not different from anatomic localizations. No correlation of measurements was found between devices assessing respective L3-4 level muscles., Conclusions: Gender and side differences must be considered when assessing MPP in axial muscles. For MTM assessments, the addition of ultrasonography was not different to anatomic references. No correlation was found between devices.

Benign transient hyperphosphatasemia of infancy and early childhood is a self-limiting condition characterized by transiently increased serum alkaline phosphatase in the absence of liver, kidney or metabolic bone diseases. It is often accidentally found in children under five years old and it might be associated with a variety of underlying clinical disorders. Its pathophysiology remains unclear. Herein, we report a case of a 4-year-old girl with a 1-year history of persistent oligoarticular Juvenile Idiopathic Arthritis, who was found to have transient hyperphosphatasemia during a periodic check-up. This clinical case underlines the importance of promptly recognizing this benign condition, which avoids unnecessary extensive investigations.

Introduction: Psoriatic arthritis (PsA) and ankylosing spondylitis (AS) are chronic disorders that significantly impact patients' quality of life (QoL), health care systems and society. There is very little data on the epidemiology and the impact of PsA and AS in Portugal, so in this study we aim to: 1) estimate the prevalence of PsA and AS in the adult Portuguese population; 2) compare health-related quality of life (QoL) of PsA and AS with the one of other rheumatic and musculoskeletal diseases (RMD) and with subjects with no rheumatic diseases; 3) compare early retirement and productivity loss among PsA and AS with other RMD., Methods: We used data from EpiReumaPt, a population-based survey, conducted from 2011 to 2013, in which 10661 subjects over 18 years old were screened for RMD. Spondyloarthritis (SpA) was defined by a positive expert opinion combined with the fulfillment of the assessment of spondyloarthritis international society (ASAS) criteria for axial and peripheral SpA. Estimates were computed as weighted proportions considering the study design. Logistic regressions were used to compare AS/PsA subjects with other RMD and the adult Portuguese population without rheumatic diseases., Results: Prevalence rate of SpA was 1.6% (95% CI 1.2% to 2.1%). Subjects with AS or PsA had worse QoL, reflected by EQ5D score when compared with the adult Portuguese population without rheumatic diseases (β=- 0.08; p=0.031). AS and PsA also had worst QoL when compared with participants with other RMD (β=-0.22; p>0.001). AS and in comparison to patients with other RMD, PsA subjects retired early due to their illness (OR=4.95; 95% CI 1.54% to 15.93%). A significant proportion of patients with SpA (13.6%) referred absenteeism in the previous 12 months to the interview., Conclusions: AS and PsA were found to be associated with poor QoL and a high rate of disease-related early retirement, emphasizing the burden of such rheumatic conditions in Portugal.

Background: Osteoporotic fractures are a major cause of morbidity and mortality. It is recognized that persistence with medication is crucial to reach optimal clinical outcomes. We aimed to estimate the persistence level to weekly and monthly oral bisphosphonates (OBP) in women with postmenopausal osteoporosis (PMO) over 24 months from therapy initiation in a population-based setting., Methods: Prospective observational cohort study of PMO women ≥50 years initiating OBP recruited through community pharmacies. Data were collected at baseline during face-to-face interviews. Follow-up included pharmacy records (refill dates and medication possession; cohort 1) and telephone-surveys for patients who agreed to be interviewed (cohort 2). Patients were classified as persistent if they refilled their prescription within 30 days after exhausting the time covered by their previous supply. Log-rank tests were used to compare Kaplan-Meier curves of time to non-persistence., Results: Of 427 women recruited with a mean age of 65.0 years, 380 (89%) agreed to be interviewed (cohort 2). Over 24-months of follow-up, 3.4% (95% CI: [2.0%; 5.6%]) of all subjects were persistent to OBP based on pharmacy records. Analysis combining both self-reported information and pharmacy records (cohort 2) showed a persistence estimate of 20.0% (95% CI: [16.1%; 24.2%]). Lower persistence was associated with more frequent OBP dosing and living alone. The most common reason for treatment discontinuation was self-reported adverse events (27.6%)., Conclusions: Results indicate a low level of persistence with OBP. Barriers and reasons leading to discontinuation of anti-PMO therapies should be proactively addressed to promote persistence and improve fracture protection.

Objectives: To assess the discontinuation of first-line biological treatment and to evaluate the reasons and predictors thereof in patients with rheumatoid arthritis (RA) from daily clinical practice., Methods: RA patients registered in the Rheumatic Diseases Portuguese Register (Reuma.pt) starting treatment with biologic DMARDs (bDMARDs) were included in this prospective observational study. The main outcome was the time to discontinuation (in years) due to any cause. Discontinuation was defined as a 90-day discontinuation of treatment or the occurrence of any switch to another bDMARD during follow-up. Baseline and time-varying sociodemographic and clinical characteristics were tested as possible predictors of discontinuation using multivariable Cox models., Results: Of the 1,851 RA patients included in the study, 871 (47%) discontinued their first bDMARD. The median overall persistence of the first bDMARD was 5.5 years and the leading cause of discontinuation was inefficacy [N=476 (55%)], followed by adverse events [N=262 (30%)], other causes [N=69, (8%)] and unknown causes [N=64 (7%)]. Patients with a higher HAQ score (more disability) at baseline were more likely to discontinue their first bDMARD [hazard ratio (HR):1.39 (95% CI: 1.17-1.64)], as were patients with a higher number of comorbidities [HR: 1.17 (1.05-1.29)] and patients starting treatment from 2007 onwards [HR:1.89 (1.5-2.38)]. On the contrary, receiving TNFi bDMARD [HR:0.74 (0.57-0.94)] as opposed to non-TNFi was associated with less discontinuation. Expectedly, the higher the DAS28 during follow-up the higher the likelihood to discontinue bDMARD [HR:1.08 (1.06-1.1)]. No other time-varying predictor was found., Conclusion: In the Portuguese RA population, maintenance of first-line bDMARD was shown to be relatively high. Inefficacy was the leading cause of discontinuation. Features found to predict drug discontinuation (e.g. baseline disability) may contribute to inform clinician's decisions in clinical practice.

Background: Advances in osteoporosis (OP)case definition, treatment options, optimal therapy duration and pharmacoeconomic evidence in the national context motivated the Portuguese Society of Rheumatology (SPR) to update the Portuguese recommendations for the diagnosis and management of osteoporosis published in 2007., Methods: SPR bone diseases' working group organized meetings involving 55 participants (rheumatologists, rheumatology fellows and one OP specialist nurse) to debate and develop the document. First, the working group selected 11 pertinent clinical questions for the diagnosis and management of osteoporosis in standard clinical practice. Then, each question was investigated through literature review and draft recommendations were built through consensus. When insufficient evidence was available, recommendations were based on experts' opinion and on good clinical practice. At two national meetings, the recommendations were discussed and updated. A draft of the recommendations full text was submitted to critical review among the working group and suggestions were incorporated. A final version was circulated among all Portuguese rheumatologists before publication and the level of agreement was anonymously assessed using an online survey., Results: The 2018 SPR recommendations provide comprehensive guidance on osteoporosis prevention, diagnosis, fracture risk assessment, pharmacological treatment initiation, therapy options and duration of treatment, based on the best available evidence. They attained desirable agreement among Portuguese rheumatologists. As more evidence becomes available, periodic revisions will be performed. Target audience and patient population: The target audience for these guidelines includes all clinicians. The target patient population includes adult Portuguese people. Intended use: These recommendations provide general guidance for typical cases. They may not be appropriate in all situations - clinicians are encouraged to consider this information together with updated evidence and their best clinical judgment in individual cases.

Objective: There is a lack of outcome measures to assess the impact of axial spondyloarthritis (axSpA) on health, function and quality of life. The Assessment of SpondyloArthritis International Society (ASAS) group developed the ASAS Health Index (ASAS-HI) and the ASAS Environmental Factors Item Set (ASAS-EF) to measure functioning and health across all aspects of health that are typically affected and relevant for patients with axSpA, based on the International Classification of Functioning, Disability and Health (ICF). The aim of this paper was to describe the translation and cross-cultural adaptation of both questionnaires into European Portuguese among patients with radiographic and non-radiographic axial SpA (nr-axSpA) and test the conceptual equivalence of the translated version in the Portuguese context., Material and Methods: The ASAS-HI and ASAS-EF were firstly translated into European Portuguese and then back-translated into English, following forward-backward procedure. After the review of the Portuguese version by an expert committee, the field test with cognitive debriefing involved a sample of 10 axSpA patients with different gender, age, disease duration, and educational background., Results: Minor difficulties arose from the translation process of the ASAS-HI. The EF Item Set offered more difficulties indicating that concepts underlying the contextual factors may be more culture-dependent. A total of 10 patients with axSpA [8 males, mean age of 41.4 (±13.7)] participated in the field test. Cognitive debriefing showed that items of the ASAS-HI and EF Item Set of the Portuguese version are clear, relevant, understandable and easy to complete. As a result of cognitive debriefing, the wording of four items had to be changed to avoid misunderstandings or unintended interpretations, and a new response option "not applicable" was added to two items of the ASAS-HI to improve appropriateness., Conclusions: The resulting Portuguese version of the ASAS-HI and ASAS-EF showed acceptable linguistic validity and has potential for use in both clinical practice and research settings. Nevertheless, before European Portuguese versions can be fully implemented, its psychometric properties (validity and reliability) need to be evaluated.

Objective: To establish Portuguese recommendations regarding the indication to perform DXA and to initiate medication aimed at the prevention of fragility fractures., Methods: A multidisciplinary panel, representing the full spectrum of medical specialties and patient associations devoted to osteoporosis, as well as national experts in this field and in health economics, was gathered to developed recommendations based on available evidence and expert consensus. Recently obtained data on the Portuguese epidemiologic, economic and quality-of-life aspects of fragility fractures were used to support decisions., Results: 10 recommendations were developed covering the issues of whom to investigate with DXA and whom to treat with antifracture medications. Thresholds for assessment and intervention are based on the cost-effectiveness analysis of interventions at different thresholds of ten-year probability of osteoporotic fracture, calculated with the Portuguese version of FRAX® (FRAX®Port), and taking into account Portuguese epidemiologic and economic data. Limitations of FRAX® are highlighted and guidance for appropriate adjustment is provided, when possible., Conclusions: Cost-effectiveness thresholds for DXA examination and drug intervention aiming at fragility fracture prevention are now provided for the Portuguese population. These are practical, based on national epidemiological and economic data, evidence-based and supported by a wide scope multidisciplinary panel of experts and scientific societies. Implementation of these recommendations holds great promise in assuring the most effective use of health resources in the prevention of osteoporotic fractures in Portugal.

Hip fractures (HF) following low-impact trauma are the most visible and dramatic consequences of osteoporosis (OP). It is estimated that within one year after HF, 20 to 30% of the patients die, 50-60% become disabled and only 30-40% fully recover their previous functional levels. Therefore, its medical, societal and economic impact is huge and it is not fully delivered by the event itself, but rather by its consequences. This paper aims to update data published by Branco et al. 2009 about epidemiology and burden of HF, specifically to revise the national data. In Portugal there have been 77,083 HF reported between 2000 and 2008 with increasing numbers with ageing along with due associated refracture and mortality rates. Recent results suggest a slight change at clinical level concerning the pharmacological approach for the treatment of HF, however it is still important to stay alert to the patients' needs and to their bone mineral density losses in order to avoid repeating the occurrence of these events, aiming to generate significant benefits in terms of health outcomes and due public expenditure.

Objectives: to establish a relationship between widespread pain subjectively perceived and threshold pain tolerance on tender points, and to determine whether there are differences in threshold pain tolerance on tender points between the upper and lower body, as well as between the dominant and non-dominant side, and whether these differences have an impact on the daily life of Portuguese women with fibromyalgia (FM)., Material & Methods: thirty-one women with FM aged between 34 and 67 years volunteered for the study. Threshold pain tolerance was assessed at critical points using a digital algometer pressure; the widespread pain index (WPI) was constructed by the addition of 19 painful body regions; and the impact on the daily life assessed by the Portuguese version of the Fibromyalgia Impact Questionnaire (FIQ), with individual interviews., Results: significant differences between the percentage of threshold pain tolerance of the whole body and the scales of widespread pain subjectively perceived were observed, showing that the widespread pain subjectively perceived by patients was between +25.9% and +27.5%. Also, significant differences between threshold pain tolerance of tender points located on the upper and lower body (1.9 ± 0.5 kg/cm2 vs. 2.6 ± 0.7 kg/cm2; respectively) were observed. However, no significant differences were found between threshold pain tolerance of tender points located on dominant and non-dominant sides (2.1 ± 0.5 kg/cm2 e 2.1 ± 0.6 kg/cm2; respectively). Additionally, the analysis showed significant correlations between pain and patient`s daily life in: FIQ total score, physical function, feel good, job ability and fatigue., Conclusions: the women with FM show higher widespread pain subjectively perceived than threshold pain tolerance on tender points. Furthermore, the pain suffered by the patients with FM, especially that located on the upper body, either on the dominant or on the non-dominant side, has a negative influence on physical function, job ability, fatigue and feel good, affecting daily life.

Background: The aim of this article was to describe and discuss several strategies and standard operating procedures undertaken in the EpiReumaPt study - which was the first Portuguese, national, cross-sectional population-based study of Rheumatic and Musculoskeletal Diseases (RMD)., Methods: The technical procedures, legal issues, management and practical questions were studied, analyzed and discussed with relevant stakeholders. During the 1st phase of EpiReumaPt the coordination team and Centro de Estudos de Sondagens e Opinião (CESOP) worked to recruit and interview 10,661 subjects. The 2nd phase involved the participation of a multidisciplinary team, several local authorities, a specialized vehicle ("mobile unit") and a specific software program for the clinical appointments. The development of specific recruitment strategies improved the participation rate. Blood samples were collected and sent to Biobanco-IMM and to a central lab for immediate measurements. In the 3rd phase the RMD diagnosis were validated by a team of three experienced rheumatologists - clinical data, imaging and lab test results were revised according to previously published classification criteria., Conclusion: EpiReumaPt was a nationwide project successfully conducted, which followed critical logistic/coordination and research strategies. EpiReumaPt methodology and coordination could be used as an example for other epidemiologic endeavors and public health policies.

Rheumatoid arthritis' synovitis affects mostly small hand and feet joints, although it may compromise any joint with a synovial lining. Cervical involvement occurs usually in longstanding disease in over half of these patients. We report the case of a 35-year old male patient who was referred to our outpatient clinic for a 2-year severe and disabling inflammatory neck pain, with incomplete response to intramuscular non-steroidal anti-inflammatory drugs and unremarkable cervical imaging studies. He also mentioned self-limited episodes of symmetric polyarthralgia involving hands, wrists, elbows, knees and feet, which started after his cervical complaints. On laboratorial workup, positive rheumatoid factor and anti-citrullinated peptide antibody and negative HLA-B27 were found. Cervical spine magnetic resonance imaging revealed atlantoaxial subluxation and odontoid process inflammatory pannus and erosions. Rheumatoid arthritis with cervical spine involvement as initial manifestation of disease was the definite diagnosis. The patient was started on methotrexate and prednisone and he was referred to neurosurgery outpatient clinic for cervical spine fixation.

Objective: To develop Portuguese evidence-based recommendations for the Diagnosis and Management of Gout., Methods: As part of the 3e Initiative (Evidence, Expertise and Exchange), a panel of 78 international rheumatologists developed 10 relevant clinical questions which were investigated with systematic literature reviews. MEDLINE, EMBASE, Cochrane CENTRAL and abstracts from 2010-2011 EULAR and ACR meetings were searched. Based on the evidence found in the published literature, rheumatologists from 14 countries developed national recommendations that were merged and voted into multinational recommendations. We present the Portuguese recommendations for the Diagnosis and Management of Gout which were formulated and voted by Delphi method in April 2012, in Lisbon. The level of agreement and potential impact in clinical practice was also assessed., Results: Twelve national recommendations were elaborated from 10 international and 2 national questions. These recommendations addressed the diagnosis of gout; the treatment of acute flares and urate-lowering therapy; monitoring of gout and comorbidity screening; the influence of comorbidities in drug choice; lifestyle; flare prophylaxis; management of tophi and asymptomatic hyperuricaemia; the role of urine alkalinization; and the burden of gout. The level of agreement with the recommendations ranged from 6.8 to 9.0 (mean 7.7) on a 1-10 point visual analogue scale, in which 10 stands for full agreement., Conclusion: The 12 Portuguese recommendations for the Diagnosis and Management of Gout were formulated according to the best evidence and endorsed by a panel of 42 rheumatologists, enhancing their validity and practical use in daily clinical practice.

B-cells play an important role not only in cellular but also in humoral immunity through differentiation into plasma cells and antibody production. B-cell depletion may, theoretically, change the course of systemic rheumatic diseases (SRD) in which self-reactive antibodies are part of the pathogenic pathway. In Rheumatology, anti-B-cell antibody Rituximab is currently licensed for the treatment of rheumatoid arthritis, however there is growing evidence of its potential use in other SRD. The authors present a case series of eight patients in which Rituximab was used off-label including overlap syndrome Rhupus, systemic lupus erythematosus and Wegener's granulomatosis. In the end, a brief literature review about this subject is performed.

Poncet's disease is a reactive polyarthritis associated to active tuberculosis (TB), with excluded presence of mycobacterium in the joints and bones affected, and no other cause for the clinical arthritis. It is a frequently forgotten entity, especially in countries with low tuberculosis prevalence. It is described a case report of a man of Guinea-Bissau that presented symmetrical generalized polyarthralgias and hands swelling, clinical sacroiliítis and multiple enthesopathies. Serum and urinary biochemical testing were normal. Immunologic studies were negative and serum levels of angiotensin-converting enzyme and calcium were normal. Sexual transmitted diseases were excluded. The initial diagnose was undifferentiated polyarthritis or reactive arthritis. A persistent and refractory monoarthritis of the right wrist demanded a direct and cultural exam of the synovial fluid, synovial biopsy and protein chain reaction for TB that were negative. After he developed right wrist arthritis with purulent synovial fluid positive to TB in the direct exam and the detection of M. tuberculosis in the cultural exam. Granula was found in his chest radiograph. He was diagnosed a Poncet's disease reactive to a pulmonary TB infection.

Introduction: The objective of this study was to develop a Portuguese version of the World Health Organization fracture risk assessment tool (FRAX®)., Methods: All cases of hip fracture occurred at or after 40 years of age were extracted from the Portuguese National Hospital Discharge Register from 2006 to 2010. Age and sex-ranked population estimates and mortality rates were obtained from National Statistics. Age- and gender stratified incidences were computed and the average of the five years under consideration was taken. Rates for other major fractures were imputed from the epidemiology of Sweden, as undertaken for most national FRAX® models. All methodological aspects and results were submitted to critical appraisal by a wide panel of national experts and representatives of the different stakeholders, including patients., Results: Hip fracture incidence rates were higher in women than in men and increased with age. The lowest incidence was observed in 40-44 years group (14.1 and 4.0 per 100,000 inhabitants for men and women, respectively). The highest rate was observed among the 95-100 age-group (2,577.6 and 3,551.8/100,000 inhabitants, for men and women, respectively). The estimated ten-year probability for major osteoporotic fracture or hip fracture increased with decreasing T-score and with increasing age., Conclusions: Portugal has one of the lowest fracture incidences among European countries. The FRAX® tool has been successfully calibrated to the Portuguese population, and can now be used to estimate the ten-year risk of osteoporotic fractures in this country. All major stakeholders officially endorsed the Portuguese FRAX® model and co-authored this paper.

Postmenopausal osteoporosis is a major concern to public health. Fractures are the major clinical consequence of osteoporosis and are associated with substantial morbidity, mortality and health care costs. Bone strength determinants such as bone mineral density and bone quality parameters are determined by life-long remodeling of skeletal tissue. Receptor activator of nuclear factor-kB ligand (RANKL) is a cytokine essential for osteoclast differentiation, activation and survival. Denosumab (Prolia®) is a fully human monoclonal antibody for RANKL, which selectively inhibits osteoclastogenesis, being recently approved for the treatment of postmenopausal osteoporosis in women at a high or increased risk of fracture by the FDA in the United States and by the European Medicines Agency in Europe since June 2010. FREEDOM, DECIDE and STAND are the phase 3 trials comparing denosumab with placebo and alendronate in postmenopausal osteoporosis. The authors aim to update denosumab role in postmenopausal osteoporosis with a physiopathological review.

Spinal infections are rare but potentially life-threatening disorders. A high level of clinical suspicion is necessary for rapid diagnosis and treatment initiation. The treatment combines both antibiotics and surgical intervention in the vast majority of cases. The authors report the case of a 84-year old female patient with a three week history of persistent lumbar back pain radiating to both thighs following a lower respiratory tract infection. She had lumbar spine tenderness but no neurological compromise. Her inflammatory markers were elevated and lumbar spine magnetic resonance imaging revealed L4-L5 spondylodiscitis with spinal epidural abscess. Blood cultures isolated Klebsiella pneumoniae and, since she was neurologically stable, conservative treatment with two-week intravenous gentamicin and eight-week intravenous ceftriaxone was initiated with positive inpatient and outpatient evolution.

Enthesitis is the hallmark of spondyloarthritis and is observed in all subtypes. Namely, a wide information on spondyloarthritis abnormalities, including synovitis, bursitis, tendinitis, enthesitis and cortical bone abnormalities (erosions and enthesophytes), can be efficiently perceived by ultrasound power Doppler. Furthermore, several studies on imaging of enthesis showed that imaging techniques are better than clinical examination to detect pathology at asymptomatic enthesis. Vascularized enthesitis detected by ultrasound power Doppler appears to be a valuable diagnostic tool to confirm spondyloarthritis diagnosis. This article focuses on the validity and reliability of ultrasound enthesitis assessment in the management of spondyloarthritis patients.

Objectives: To develop Portuguese evidence-based recommendations for pain management by pharmocotherapy in inflammatory arthritis., Methods: The Portuguese project was integrated in the multinational 3E Initiative (Evidence, Expertise, Exchange) 2010 where a total of 453 rheumatologists from 17 countries have participated. The clinical questions concerning pain were formulated and the Portuguese group added 2 more questions. A systematic literature search was performed in Medline, Embase, Cochrane Library and 2008-2009 EULAR and ACR abstracts. The selected articles were systematically reviewed and the evidence was defined according to the Oxford Levels of Evidence. In each country a group of experts joined to discuss their national recommendations. In Portugal, the national meeting was held in October 2010, where 33 rheumatologists discussed and voted by Delphi method the national recommendations. Finally, the agreement among the rheumatologists and the potential impact on their clinical practice was assessed., Results: Thirteen national recommendations were formulated: pain measure scores; analgesic combination therapy; pharmacotherapy in preconception, pregnancy and lactation periods; pharmacotherapy according to comorbilities; safety of NSAIDs and/or paracetamol with methotrexate combination therapy; efficacy and safety of continuous/on-demand NSAIDs; opioids, paracetamol, corticosteroids, antidepressants, neuromodulators and muscle relaxants role and effectiveness; risk factors for the development of chronic pain and the role of topic analgesics., Conclusion: The portuguese recommendations for the pain management by pharmacotherapy in inflammatory arthritis were formulated according to the best evidence and supported by a panel of 63 rheumatologists. The differences between the national and international recommendations are reported in this article.

Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity (TNSALP), due to ALPL gene mutation. There are 6 clinical forms. Childhood form is caractherized by short stature, premature loss of decidous teeth and diffuse bone pain associated with a pathological bone fracture in the past. Laboratory findings present low serum level of alkaline phosphatase and high levels of serum and urinary extracelular metabolytes. It is described a case report of a 34 years old woman with previous diagnosis of childhood hypophosphatasia, caryotype 46,XX, and molecular screening for the gene ALPL with a c.1426>A p.E476K mutation, who complained of proximal muscular weakness intensified with the cold weather, exercise, and a waddling gait. The electromyography was compatible with myopathy but the muscle biopsy was normal. The serum creatine kinase levels were normal, as well as the others muscle enzymes. Clinical and laboratory/ /imaging dissociation is frequent in other metabolic bone diseases as osteomalacia. The rarity of this case of childhood hypophosphatasia with "de novo" non-progressive myopathy of the lower limbs, justified a case report with literature revision.

Introduction: Rheumatic diseases (RD) are conditions with a variety of clinical manifestations and prognosis influenced by several factors. Cohorts and registries have been already established in some countries and have contributed to important knowledge about the disease course and the long-term outcomes of RD. This paper introduces the CoReumaPt project and sets the first step towards the creation of a prospective cohort study including the main RD occurring in the Portuguese population. CoReumaPt will allow outcomes research of chronic RD and the assessment of factors influencing the development and progression of RD. It will also allow to further evaluate the economic impact and the burden of RD in Portugal. CoReumaPt will be linked to Reuma.pt, the National Register of Rheumatic Diseases from the Portuguese Society of Rheumatology., Methods: An open cohort will be created, initially composed by the randomly selected population of the crosssectional National Epidemiological Rheumatic Diseases study (EpiReumaPt) and afterwards by other sources, namely through self- and physician's referral. Follow-up with annual self-administered questionnaires will be performed, in order to systematically collect and analyze outcomes of interest, mainly patient-reported outcomes. Data concerning less frequent assessments, such as radiographs and biomarkers, will also be assembled., Conclusions: CoReumaPt will be a valuable resource for scientific research and will deliver pivotal information to improve public health policies concerning the prevention and the management of RD in Portugal.

The authors review the practical aspects of biological therapy use for rheumatoid arthritis patients, commenting safety issues before and after treatment initiation and the best treatment strategies to optimize efficacy.

The discovery of the receptor activator of nuclear factor-kB (RANK)/RANK Ligand (RANKL)/osteoprotegerin (OPG) pathway contributed to the understanding of how bone formation and resorption were processed and regulated. RANKL and OPG are members of the tumor necrosis factor (TNF) and TNF receptor (TNFr) superfamilies, respectively, and binding to receptor activator of NF-kB (RANK) not only regulate osteoclast formation, activation and survival in normal bone modeling and remode-ling, but also in several other pathologic conditions characterized by increased bone turnover. There is accumulating evidence of the potential role of OPG and RANKL in other tissues. Looking beyond the RANK/RANKL/OPG axis, Wingless (Wnt) pathway emerged as the osteoblast differentiation way, and also as a bone mass regulator. Researchers have been discovering new molecules and cytokines interactions. Altogether, data suggest that RANK/RANKL/OPG system could be targeted as a new treatment strategy in bone conditions. FREEDOM is the more recently published clinical trial about a RANKL-specific recombinant fully human monoclonal antibody (denosumab). OPG is also a potential innovative therapeutic option to be investigated.

Objective: Rheumatoid Arthritis (RA) disease activity plays an important role in patients disability. A standardized approach to measure it was achieved by using disease activity score (DAS) based on erythrocyte sedimentation rate (ESR) and more recently C-reactive protein (CRP). In this study we will assess the role and influence of ESR and CRP in evaluating and assessing the disease activity., Methods: This is a retrospective, longitudinal study, whose data was obtained from the national RA patient clinical database BioreportAR (following ACR criteria) under biological disease modifying anti-rheumatic drugs (BDMARDs), involving 71 patients from CHLO-Hospital Egas Moniz. The ESR and CRP of each patient were recorded from 2 separated visits. The swollen joint counts (SJC), tender joint counts (TJC), visual analog scale (VAS) for pain, patient global assessment and physician global assessment were also recorded. DAS 28-ESR, DAS 28-CRP, simplified disease activity index (SDAI) and clinical disease activity index (CDAI) were calculated. The relevant Pearson correlations were established between variables., Results: A sample of 71 patients with an average age of 55 years old and an average RA duration of 9,8 years, was analysed. ESR and CRP correlated poorly between themselves (r=0,31, p<0,001) and they were shown not to be significant predictors of SJC (ESR r=0,29 p< 0,001 and CRP r=0,089 p<0,001) or TJC (ESR r=0,28 p<0,001 and CRP r=0,072 p<0,001). However DAS-ESR and DAS-CRP were highly correlated (r=0,88, p<0,001) as also as, DAS ESR-CDAI (r=0,89, p<0,001), DAS RCP-CDAI (r= 0,88 p< 0,001) and SDAI-CDAI (r=0,89 p<0,001). DAS-CRP values were lower than those in DAS-ESR, but in 84,7% of the visits disease activity status were., Conclusions: The significant correlation between DAS-ESR and DAS-CRP, indicated that it will not be necessary to perform both evaluations. DAS-CRP yielded a better activity score more often than DAS-ESR, but with 84,7% of concordance in the disease activity status, indicating that both measures are useful for assessing disease activity in RA. Furthermore the correlation between DAS scores and CDAI, and also between SDAI-CDAI may enable physicians to easily assess the disease activity without ESR or CRP values.

Fibrous dysplasia of bone or Jaffe Lischtenstein's disease is a genetic, non-inheritable disease of bone development, characterized by bone pain, deformities and fracture, mainly observed in yo ung adults. The frequency is equal between sexes. Mutations in the gene coding the Gsα, GNAS complex, results in osteoblastic differentiation defects, and bone resorption. The disease can have a monostotic or polyostotic form, or be associated with café-au-lait skin spots and precocious puberty (McCune-Al bright syndrome). The normal bone and bone marrow is replaced with abnormal benign intramedullary fibro-osseous tissue, and can involve any bone in the body. The vertebral involvement is rare. Radiological and pathological findings can be diagnostic. Biphosphonates and calcium, vitamin D and phosphorus supplements have been used in fibrous dysplasia treatment. Osteosarcoma is a rare, but serious malignant complication. We report the case of a 68 year old woman with a history of hypofisectomy, with a progressive low back pain, without systemic or neurological symptoms. The bone scan, the ra di o graphs and the computed tomography findings revealed polyostotic fibrous dysplasia, with vertebral and mandibular involvement. In this paper we compared fibrous dysplasia of bone with Paget bone disease.

Rheumatic diseases (RDs) are among the most common diseases. In the developed world, they are the leading cause of disability and consume a large amount of health and social resources. Therefore, it is crucial to assess the impact of RDs on the general population in what refers to their prevalence, and repercussion on quality of life and function. However, no nationwide epidemiological studies on RDs have ever been performed in Portugal. With this research project we aim to estimate the prevalence of different RDs in Portugal, as well as to determine the burden of RDs, more specifically their impact on quality of life and functional and work capacity. A cross-sectional study will be performed, using a random sample of the Portuguese population. RDs will be screened through a structured interview, and subjects with a positive screening will be examined by a trained rheumatologist to establish the final diagnosis. The knowledge of the prevalence of RDs will contribute to the development of specific health plans for the current and future management of these diseases.