Early manifestation of myocardial involvement in systemic sclerosis.

INTRODUCTION: Systemic sclerosis (SSc) is a systemic autoimmune disease involving multiple organs. We present a rare case of SSc in which clinical manifestations of cardiac fibrosis occurred early in the disease course. CASE REPORT: We report the case of a 40-year-old Caucasian man, previously diagnosed with SSc, who presented with decompensated heart failure. Transthoracic echocardiography was remarkable for severe right ventricular systolic dysfunction, abnormal ventricular septal motion, severe functional tricuspid regurgitation and normal pulmonary artery systolic pressure. Left ventricular ejection fraction was 45%. Right heart catheterization revealed no signs of pulmonary hypertension. Cardiac magnetic resonance (CMR) showed diffuse myocardial infiltration, later confirmed as myocardial fibrosis by endomyocardial biopsy. CONCLUSIONS: Myocardial fibrosis is an important cause of early heart failure in SSc patients and is associated with poor prognosis. Echocardiography and CMR help establish the diagnosis and enable an appropriate therapeutic strategy to be developed in such cases.

Pulmonary magnetic resonance imaging is similar to chest tomography in detecting inflammation in patients with systemic sclerosis.

Interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) are prevalent complications of systemic sclerosis (SSc) and are currently the leading causes of death related to the disease. The accurate recognition of these conditions is therefore of utmost importance for patient management. A study was carried out with 24 SSc patients being followed at the Rheumatology Department of the Hospital de Clínicas of Universidade Federal do Paraná (UFPR) and 14 healthy volunteers, with the objective of evaluating the usefulness of lung magnetic resonance imaging (MRI) when assessing ILD in SS patients. The results obtained with lung MRI were compared to those obtained by computed tomography (CT) of the chest, currently considered the examination of choice when investigating ILD in SS patients. The assessed population was predominantly composed of women with a mean age of 50 years, limited cutaneous SS, and a disease duration of approximately 7 years. In most cases, there was agreement between the findings on chest CT and lung MRI. Considering it is a radiation-free examination and capable of accurately identifying areas of lung tissue inflammatory involvement, lung MRI showed to be a useful examination, and further studies are needed to assess whether there is an advantage in using lung MRI instead of chest CT when assessing ILD activity in SS patients.

Incidence and prevalence of systemic sclerosis in Campo Grande, State of Mato Grosso do Sul, Brazil.

INTRODUCTION: Systemic sclerosis is an autoimmune disease which shows extreme heterogeneity in its clinical presentation and that follows a variable and unpredictable course. Although some discrepancies in the incidence and prevalence rates between geographical regions may reflect methodological differences in the definition and verification of cases, they may also reflect true local differences. OBJECTIVES: To determine the prevalence and incidence of systemic sclerosis in the city of Campo Grande, state capital of Mato Grosso do Sul (MS), Brazil, during the period from January to December 2014. METHODS: All health care services of the city of Campo Grande - MS with attending in the specialty of Rheumatology were invited to participate in the study through a standardized form of clinical and socio-demographic assessment. Physicians of any specialty could report a suspected case of systemic sclerosis, but necessarily the definitive diagnosis should be established by a rheumatologist, in order to warrant the standardization of diagnostic criteria and exclusion of other diseases resembling systemic sclerosis. At the end of the study, 15 rheumatologists reported that they attended patients with systemic sclerosis and sent the completed forms containing epidemiological data of patients. RESULTS: The incidence rate of systemic sclerosis in Campo Grande for the year 2014 was 11.9 per million inhabitants and the prevalence rate was 105.6 per million inhabitants. Systemic sclerosis patients were mostly women, white, with a mean age of 50.58 years, showing the limited form of the disease with a mean duration of the disease of 8.19 years. Regarding laboratory tests, 94.4% were positive for antinuclear antibody, 41.6% for anti-centromere antibody and 19.1% for anti-Scl70; anti-RNA Polymerase III was performed in 37 patients, with 16.2% positive. CONCLUSIONS: The city of Campo Grande, the state capital of MS, presented a lower incidence/prevalence of systemic sclerosis in comparison with those numbers found in US studies and close to European studies' data.

Acometimento da função ventricular direita em pacientes com esclerose sistêmica e doença pulmonar intersticial: avaliação pelo doppler tecidual / Impairment of right ventricular function in patients with systemic sclerosis and interstitial lung disease: tissue doppler evaluation

Introdução: A esclerose sistêmica (ES) é uma doença autoimune do tecido conjuntivo que cursa com fibrose e disfunção microvascular. O envolvimento dos órgãos viscerais, incluindo os pulmões e o coração, é a principal causa de óbito na ES. Nesse contexto, analisamos a relação entre os parâmetros ventriculares direitos (VD) pela ecocardiografia com Doppler tecidual e o acometimento pulmonar em pacientes com ES. Métodos: Os pacientes que preencheram os Critérios de Classificação da ES de 2013 foram submetidos à ecocardiografia com Doppler tecidual para avaliação da função sistólica (fração de ejeção) ventricular esquerda (VE), enquanto a função sistólica do VD foi avaliada por meio da fração de variação de área do VD (fractional area change ­ FAC), velocidade (sistólica) do Doppler tecidual, índice de desempenho miocárdico (IDM) e excursão sistólica do plano anular tricúspide (TAPSE). A pressão sistólica pulmonar foi estimada por insuficiência tricúspide. A tomografia computadorizada de alta resolução (TCAR) de tórax avaliou a presença de fibrose pulmonar. De acordo com os resultados da TCAR, os pacientes foram divididos em 2 subgrupos: Grupo I, incluindo pacientes com fibrose pulmonar (n=26), e Grupo II sem fibrose (n=17). Resultados: Entre os 43 pacientes com ES, a maioria era do sexo feminino (86%) com idade de 51±12 anos. Todos os pacientes apresentavam função ventricular sistólica normal, avaliada pela FEVE>55% e FAC VD>35%. Não houve diferença significativa em termos de idade ou duração da doença para os grupos. Exceto pela diminuição das velocidades do Doppler tecidual em pacientes com fibrose pulmonar, todos os índices de desempenho do VD foram semelhantes. Conclusão: Em pacientes com ES e fibrose pulmonar, o Doppler tecidual identifica acometimento miocárdico longitudinal precoce do VD, apesar do desempenho sistólico radial preservado do VD.(AU)

Introduction: Systemic sclerosis (SSc) is an autoimmune tissue connective disease that courses with fibrosis and microvascular dysfunction. Involvement of the visceral organs, including the lungs and heart, is the main cause of death among patients with SSc. In this context, here we analyzed the relationship between right ventricle (RV) parameters assessed by tissue Doppler echocardiography and lung involvement in patients with SSc. Methods: Patients fulfilling the 2013 SSc Classification Criteria underwent tissue Doppler echocardiography for the assessment of left ventricular (LV) systolic function (ejection fraction) and RV fractional area change (FAC), tissue Doppler s' (systolic) velocity, myocardial performance index, and tricuspid annular plane systolic excursion for the assessment of RV systolic function. Pulmonary systolic pressure was estimated using tricuspid regurgitation. Chest high-resolution computed tomography was used to evaluate the presence of pulmonary fibrosis. The patients were divided into two subgroups accordingly: Group I, patients with pulmonary fibrosis (n=26); and Group II, those without fibrosis (n=17). Results: Among the 43 patients with SSc, most were female (86%), and the mean age was 51 ± 12 years. All patients had normal systolic ventricular function as evidenced by an LV ejection fraction > 55% and an RV FAC > 35%. No significant intergroup difference was noted in age or disease duration. Except for a decreased tissue Doppler s' velocity in patients with lung fibrosis, all indexes of RV performance were similar. Conclusion: In patients with SSc and pulmonary fibrosis, tissue Doppler identified early RV longitudinal myocardial involvement despite preserved RV radial systolic performance.(AU)

Tiossulfato de sódio 10% intralesional para tratamento da calcinose em pacientes com esclerose sistêmica e dermatomiosite: série de casos / 10% intralesional sodium thiosulphate for calcinosis treatment in patients with systemic sclerosis and dermatomyositis: case series

INTRODUÇÃO: A calcinose é uma complicação frequente da esclerose sistêmica e da dermatomiosite, resultando em dor local, contraturas, ulcerações, infecções secundárias e limitação funcional. Não há tratamento eficaz para calcinose mas o tiossulfato de sódio tem se mostrado promissor. OBJETIVOS: Analisar a resposta terapêutica ao tiossulfato de sódio 10% intralesional nas calcinoses de pacientes com dermatomiosite e esclerose sistêmica. MÉTODOS: Estudo prospectivo, não controlado, incluindo 7 pacientes, totalizando 10 calcinoses, sendo um paciente com dermatomiosite e 6 com esclerose sistêmica. Desfechos primários: melhora da dor pela escala visual analógica e diminuição do maior e menor diâmetros das calcinoses ao raio-x. Desfechos secundários: melhora da qualidade de vida pelo SF12 (Medical Outcomes Study Short Form 12) e da função pelo HAQ (Health Assesment Questionnaire). Resultados foram expressos em médias e as variáveis contínuas comparadas pelo teste t-Student ou pelo teste de Wilcoxon. RESULTADOS: Foram realizadas 2 a 8 aplicações intralesionais (média de 3,7), com média de 8,9mg de tiossulfato por injeção a intervalos de 13 a 56 dias, com intervalo médio de 19 dias. Todos os pacientes relataram melhora da dor, porém esse resultado não foi significativamente estatístico. Não houve redução do diâmetro das calcinoses, nem melhora da qualidade de vida ou funcional. CONCLUSÃO: Baixas doses de tiossulfato de sódio administradas por injeções intralesionais, em intervalos médios de 19 dias, em número limitado de aplicações, não foram efetivas para o tratamento da calcinose

BACKGROUND: Calcinosis is a frequent complication of systemic sclerosis and dermatomyositis, resulting in local pain, contractures, ulcerations, secondary infections and functional limitations. There is no effective treatment for calcinosis, but sodium thiosulphate has shown to be promising. OBJECTIVE: To analyze the therapeutic response to 10% intralesional sodium thiosulphate on calcinosis of patients with dermatomyositis and systemic sclerosis. METHODS: Non-controlled prospective study, with 7 patients and 10 calcinoses, of which one had dermatomyositis and six had scleroderma. Primary outcomes: improvement in the pain by the visual analogue scale, and a decrease in both diameters (biggest and smallest) of calcinoses on X-ray. Secondary outcomes: improvement in quality of life by SF12 (Medical Outcomes Study Short Form 12), and of function by HAQ (Health Assessment Questionnaire). Results were expressed as means; continuous variables were compared by the t-Sudent test or by the Wilcoxon test. RESULTS: Two to 8 intralesional applications were performed (mean of 3.7), with mean of 8.9mg of thiosulphate per injection, at 13-56 days intervals (mean of 19 days). All patients reported improvement in pain, albeit such result was not statistically significant. There was no reduction in the diameters of calcinoses, nor there were quality of life or functional improvements. CONCLUSION: Low doses of sodium thiosulphate, administered through intralesional injections, in mean intervals of 19 days, in a limited number of applications, were not effective for calcinosis treatment

Perfil das manifestações musculoesqueléticas em esclerose sistêmica e associação com fator reumatoide / Profile of musculoskeletal manifestations in systemic sclerosis and association with rheumatoid factor

A esclerose sistêmica (ES) é doença sistêmica crônica e autoimune. Estima-se que dor musculoesquelética esteja presente entre 40-80% dos pacientes, sobretudo naqueles com doença difusa precoce. O objetivo deste trabalho foi estudar a prevalência de manifestações musculoesqueléticas em ES, verificar se sua presença altera o perfil clínico, qual a prevalência de fator reumatoide na ES e sua associação com manifestações musculoesqueléticas. É estudo retrospectivo envolvendo 48 pacientes com ES. Foram coletados dados sobre epidemiologia, manifestações clínicas e exames laboratoriais Coletou-se também o valor do HAQ. Em conclusão, manifestações articulares da ES estão associadas com pior funcionalidade e a miosite aparece nos mais jovens. Um quarto dos pacientes é positivo para fator reumatoide, mas ele não se associa com as manifestações musculoesqueléticas.

Systemic sclerosis (SSc) is a chronic and autoimmune systemic disease. It is estimated that musculoskeletal pain is present in 40-80% of patients, especially those with early diffuse disease. The objective of this work was to study the prevalence of musculoskeletal manifestations in SSc, verify if its presence alters the clinical profile, the prevalence of rheumatoid factor in SSc and its association with musculoskeletal manifestations. It is a retrospective study involving 48 patients with SSc. Data on epidemiology, clinical manifestations and laboratory tests were collected. The HAQ value was also collected. In conclusion, joint manifestations of SSc are associated with worse functionality and myositis appears in the youngest. A quarter of patients are positive for rheumatoid factor but it is not associated with musculoskeletal manifestations.

Serum Clara cell 16-kDa protein levels and lung impairment in systemic sclerosis patients.

OBJECTIVE: To assess clinical utility of serum Clara cell 16-kDa protein measurements in relation with staging system for systemic sclerosis associated interstitial lung disease. MATERIALS AND METHODS: Serum levels of Clara cell 16-kDa protein were determined by ELISA in 28 systemic sclerosis patients and 30 healthy controls, and correlated with staging system for systemic sclerosis associated interstitial lung disease in systemic sclerosis patients. Lung involvement was assessed functionally (body plethysmography, diffusing capacity of the lung for carbon monoxide) and radiologically (an average disease extent on high resolution computed tomography of the lungs) in SSc patients. RESULTS: We observed statistically significant differences in serum Clara cell 16-kDa protein levels between systemic sclerosis patients and healthy controls only in non-smokers. However, serum Clara cell 16-kDa protein concentrations were significantly elevated in patients with high resolution computed tomography extent >20% in comparison to patients with high resolution computed tomography extent <20% (p=0.01). They correlated positively with average disease extent on high resolution computed tomography (p=0.04), an extent of a reticular pattern on high resolution computed tomography (p<0.01), and negatively with a total lung capacity (p=0.03) and the results of the 6-min walk test (p<0.01). CONCLUSIONS: Clara cell 16-kDa protein levels can be considered as a supplemental serum biomarker for systemic sclerosis associated interstitial lung disease.

Inmunosupresores en la Esclerosis Sistémica. Uso y respuesta terapéutica

Resumen: Introducción: La esclerosis sistémica (ES) es una enfermedad compleja y heterogénea. Su abordaje terapéutico y oportunidad de inmunosupresión no está completamente sistematizada y constituye un reto. Objetivo: Describir los usos y respuesta terapéutica a los inmunosupresores (IS) en una cohorte de pacientes con ES. Metodología: Se identificaron los pacientes con Esclerosis sistémica asistidos en dos unidades de enfermedades autoinmunes sistémicas. Se incluyeron los que recibieron IS. Variables estudiadas: sexo, edad y motivo de IS. En los que presentaron compromiso respiratorio se analizaron los resultados de las pruebas de función respiratoria pre y postratamiento. Resultados: 20 pacientes, 17 de sexo femenino. Edad media 64 años. Principal indicación de IS: compromiso respiratorio seguido del cutáneo-articular. Se realizó inducción en 75% de los pacientes respiratorios vs. 12% con otro compromiso. Micofenolato mofetilo fue el inmunosupresor más utilizado. Conclusiones: El uso de IS predomina en el compromiso respiratorio de los pacientes con ES. Se observó un mayor uso de MMF respecto a otros IS así como una respuesta favorable en las pruebas de función respiratoria en los pacientes tratados con IS.

Abstract: Introduction: Systemic sclerosis (SS) is a complex and heterogeneous disease. Its therapeutic approach and immunosuppression opportunity is not completely defined, it remains a challenge. Objective: To describe the usage and therapeutic response to immunosuppressive agents (IS) in a cohort of patients with SS. Methodology: Patients with SS assisted in 2 units of systemic autoimmune diseases were selected. Those who received IS were included. Variables studied were sex, age and IS indication. Those with respiratory manifestations were assessed with functional lung tests previous and after treatment. Results: 20 patients, 17 females. The mean age was 64 years old. The main indication of IS was respiratory manifestations followed by skin and articular symptoms. Induction treatment was indicated in 75% of respiratory patients vs. 12% in those with other manifestations. Mycophenolate mofetil was the most widely immunosuppressive agent employed. Conclusions: The main prescription of IS in SS was for patients with respiratory manifestations. An increased use of MMF among other IS was observed as well as a favourable response in lung function tests in patients treated with IS.

Resumo: Introdução: A esclerose sistêmica (ES) é uma doença complexa e heterogênea. Sua abordagem terapêutica e oportunidade de imunossupressão não estão totalmente sistematizadas e constituem um desafio. Objetivo: Descreva os usos e resposta terapêutica a imunossupressores (SI) em uma coorte de pacientes com SS. Metodologia: Foram identificados pacientes com esclerose sistêmica atendidos em duas unidades de doenças autoimunes sistêmicas. Aqueles que receberam IS foram incluídos. Variáveis estudadas: sexo, idade e motivo do IS. Naqueles com comprometimento respiratório, foram analisados os resultados dos testes de função respiratória pré e pós-tratamento. Resultados: 20 pacientes, 17 mulheres. Idade média 64 anos. Principal indicação para IS: comprometimento respiratório seguido de cutâneo-articular. A indução foi realizada em 75% dos pacientes respiratórios vs. 12% com outro compromisso. O micofenolato de mofetil foi o imunossupressor mais amplamente utilizado. Conclusões: O uso de SI predomina no comprometimento respiratório de pacientes com SS. Um maior uso de MMF foi observado em comparação com outros ISs, bem como uma resposta favorável em testes de função respiratória em pacientes tratados com IS.

Familial autoimmunity and polyautoimmunity in 60 Brazilian Midwest patients with systemic sclerosis. / Autoimunidade familial e poliautoimunidade em 60 pacientes portadores de esclerose sistêmica da região Centro-Oeste do Brasil.

INTRODUCTION: Systemic sclerosis (SSc) is a connective tissue disease of unknown etiology, characterized by a triad of vascular injury, autoimmunity and tissue fibrosis. It is known that a positive family history is the greatest risk factor already identified for the development of SSc in a given individual. Preliminary observation of a high prevalence of poliautoimmunity and of familial autoimmunity in SSc patients support the idea that different autoimmune phenotypes may share common susceptibility variants. OBJECTIVES: To describe the frequency of familial autoimmunity and poliautoimmunity in 60 SSc patients in the Midwest region of Brazil, as well as to report the main autoimmune diseases observed in this association of comorbidities. METHODS: A cross-sectional study with recruitment of 60 consecutive patients selected at the Rheumatology Department, University Hospital, Medicine School, Federal University of Mato Grosso do Sul (FMUFMS), as well as interviews of their relatives during the period from February 2013 to March 2014. RESULTS: A frequency of 43.3% of poliautoimmunity and of 51.7% of familial autoimmunity in SSc patients was found. Patients with presence of poliautoimmunity and familial autoimmunity presented primarily the diffuse form of SSc, but this indicator did not reach statistical significance. The autoimmune diseases most frequently observed in poliautoimmunity patients were: Hashimoto's thyroiditis (53.8%), Sjögren's syndrome (38.5%), and inflammatory myopathy (11.5%). The main autoimmune diseases observed in SSc patients' relatives were: Hashimoto's thyroiditis (32.3%), rheumatoid arthritis (22.6%), and SLE (22.6%). The presence of more than one autoimmune disease in SSc patients did not correlate with disease severity or activity. CONCLUSIONS: From the high prevalence of coexisting autoimmune diseases found in SSc patients, we stress the importance of the concept of shared autoimmunity, in order to promote a continued vigilance and promptly diagnose other possible autoimmune disease in patients, or in their kin.

Overlap between systemic sclerosis and rheumatoid arthritis: a distinct clinical entity?

INTRODUCTION: Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue characterized by the triad of vascular injury, autoimmunity (cellular and humoral) and tissue fibrosis. It is estimated that musculoskeletal pain is a common complaint of patients with SSc, ranging from 40 to 80%, and mainly in patients with early diffuse disease. Arthritis, clinically observed, may be a feature seen in the presentation of SSc, often leading to early diagnostic errors with rheumatoid arthritis (RA). In the course of the disease, arthritis is observed in 24-97% of patients with SSc. OBJECTIVES: To correlate the occurrence or nonoccurrence of arthritis in patients with SSc of the Midwest region of Brazil with possible distinct clinical and laboratory manifestations observed in three groups of patients. To report the frequency of true association between systemic sclerosis and rheumatoid arthritis in patients with clinically and radiologically observed synovitis. METHODS: Sixty-one SSc patients were subsequently assessed every 3 months within 1 year, in order to clinically observe the occurrence of synovitis and its patterns of progression. Patients were divided into 3 groups: 41 patients with SSc without arthritis, 16 SSc patients with arthritis and 4 patients with overlap of SSc and RA. All patients underwent a radiological examination of the hands at the end of the study. RESULTS: Among all patients evaluated, we found a female predominance (98.7%), mean age of 50.94 years, white color (49.2%), limited form of the disease (47.6%), time of diagnosis between 5 and 10 years (47.6%) and duration of the disease of 8.30 years. Among all patients, 14 (22.9%) had positive rheumatoid factor (RF), while among those with positive RF, only 10 patients had arthritis during one-year follow-up. The antibody anticitrulline (anti-CCP) test was performed in 24 patients, being positive in 4 of them (16.7%), with positivity being observed only in patients with SSc/RA overlap. Comparing the clinical manifestations among the groups of patients, there was a higher incidence of gastritis and cardiac valvulopathy in patients with SSc and arthritis, but not in the others. In the group of patients with SSc/RA overlap and in patients with SSc and arthritis a significant reduction in quality of life was observed, measured by HAQ index, especially in patients with arthritis present during clinical evaluation. We found radiographic changes in 42.6% of patients with SSc. However, in patients with synovitis, radiological changes consistent with rheumatoid arthritis were found in 50% of patients. CONCLUSIONS: While the frequency of clinical arthritis observed in patients with systemic sclerosis was 32.8%, the true overlap between of SSc and RA was 6.6% in this study. We also observed the frequency of positive anti-CCP in 20% of patients with arthritis versus no patients with SSc without arthritis.

Familial autoimmunity and polyautoimmunity in 60 Brazilian Midwest patients with systemic sclerosis.

INTRODUCTION: Systemic sclerosis (SSc) is a connective tissue disease of unknown etiology, characterized by a triad of vascular injury, autoimmunity and tissue fibrosis. It is known that a positive family history is the greatest risk factor already identified for the development of SSc in a given individual. Preliminary observation of a high prevalence of polyautoimmunity and of familial autoimmunity in SSc patients support the idea that different autoimmune phenotypes may share common susceptibility variants. OBJECTIVES: To describe the frequency of familial autoimmunity and polyautoimmunity in 60 SSc patients in the Midwest region of Brazil, as well as to report the main autoimmune diseases observed in this association of comorbidities. METHODS: A cross-sectional study with recruitment of 60 consecutive patients selected at the Rheumatology Department, University Hospital, Medicine School, Federal University of Mato Grosso do Sul (FMUFMS), as well as interviews of their relatives during the period from February 2013 to March 2014. RESULTS: A frequency of 43.3% of polyautoimmunity and of 51.7% of familial autoimmunity in SSc patients was found. Patients with the presence of polyautoimmunity and familial autoimmunity presented primarily the diffuse form of SSc, but this indicator did not reach statistical significance. The autoimmune diseases most frequently observed in polyautoimmunity patients were: Hashimoto's thyroiditis (53.8%), Sjögren's syndrome (38.5%), and inflammatory myopathy (11.5%). The main autoimmune diseases observed in SSc patients' relatives were: Hashimoto's thyroiditis (32.3%), rheumatoid arthritis (22.6%), and SLE (22.6%). The presence of more than one autoimmune disease in SSc patients did not correlate with disease severity or activity. CONCLUSIONS: From the high prevalence of coexisting autoimmune diseases found in SSc patients, we stress the importance of the concept of shared autoimmunity, in order to promote a continued vigilance and promptly diagnose other possible autoimmune disease in patients, or in their kin.

Rituximab for the therapy of systemic sclerosis: a series of 10 cases in a single center.

Systemic sclerosis (SSc) is a chronic autoimmune disease with a high morbidity and mortality. Although cyclophosphamide is effective for severe and refractory cases, there is demand for new treatments. The biological treatment with B-cell depletion with rituximab (RTX) has demonstrated efficacy for this demand in open-label studies. OBJECTIVE: This study was conducted with the aim to retrospectively evaluate all patients who used RTX for the treatment of SSc in our center. PATIENTS AND METHODS: We retrospectively evaluated medical records of all patients with SSc who used RTX to treat this disease from January 2009 to January 2015. Systemic, cutaneous, and pulmonary involvement data and laboratory results before and six months after the first infusion of RTX were collected. RESULTS: Ten patients received treatment during the study period and were included in this series. All patients had a diffuse form of the disease. Five patients suffered from an early (duration of disease shorter or equal to four years), rapidly progressive disease, and another five received RTX at late stages of the disease. In both groups of patients, stabilization of the pulmonary picture was observed, with a fall in the skin score in those patients with early forms of the disease. DISCUSSION: Similar to findings in previous studies, RTX was effective in treating early and rapidly progressive forms of SSc. We also found that patients with long-term illness may benefit from the treatment.

Low vitamin D serum levels in diffuse systemic sclerosis: a correlation with worst quality of life and severe capillaroscopic findings.

OBJECTIVE: The aim of this study was to analyze the correlation of vitamin D levels with clinical parameters, bone mineral density (BMD), quality of life (QoL) and nailfold capillaroscopy (NC) in patients with diffuse systemic sclerosis (SSc). METHODS: Thirty-eight female patients with diffuse SSc were analyzed regarding 25-hydroxyvitamin D (25OHD) serum levels. At inclusion, organ involvement, autoantibodies, modified Rodnan skin score (mRSS), Medsger Disease Severity Index (MDSI), body mass index (BMI), BMD, NC, Short-Form-36 Questionnaire (SF-36), and Health Assessment Questionnaire (HAQ), were performed through a standardized interview, physical examination and electronic chart review. RESULTS: Mean 25OHD serum level was 20.66±8.20ng/mL. Eleven percent of the patients had 25OHD levels ≤10ng/mL, 50% ≤20ng/mL and 87% ≤30ng/mL. Vitamin D serum levels were positively correlated with BMI (r=0.338, p=0.038), BMD-total femur (r=0.340, p=0.037), BMD-femoral neck (r=0.384, p=0.017), SF-36-Vitality (r=0.385, p=0.017), SF-36-Social Function (r=0.320, p=0.050), SF-36-Emotional Role (r=0.321, p=0.049) and SF-36-Mental Health (r=0.531, p=0.0006) and were negatively correlated with HAQ-Reach (r=-0.328, p=0.044) and HAQ-Grip Strength (r=-0.331, p=0.042). A negative correlation with NC-diffuse devascularization (p=0.029) and NC-avascular area (p=0.033) was also observed. CONCLUSION: The present study provides novel evidence demonstrating that low levels of 25OHD have a negative impact in diffuse SSc QoL and further studies are needed to define whether vitamin D supplementation can improve health related QoL in these patients. The additional observation of a correlation with severe NC alterations suggests a possible role of 25OHD in the underlying SSc vascular involvement.

Systemic sclerosis: a rare cause of heart failure?

Systemic sclerosis (SS) is a chronic disease in which there may be multisystem involvement. It is rare (estimated prevalence: 0.5-2/10000) with high morbidity and mortality, and there is as yet no curative treatment. We report the case of a young woman newly diagnosed with SS, in whom decompensated heart failure was the main manifestation.

[Nailfold capillaroscopy: relevance to the practice of rheumatology]. / Capilaroscopia periungueal: relevância para a prática reumatológica.

Nailfold capillaroscopy is a simple, low-cost method, that is extremely important in the evaluation of patients with Raynaud's phenomenon and of patients with systemic sclerosis (SSc) spectrum diseases. Besides its importance for the early diagnosis of SSc, nailfold capillaroscopy is a useful tool to identify scleroderma patients with high risk for development of vascular and visceral complications and death. The inclusion of capillaroscopy in the new classification criteria for SSc of the American College of Rheumatology (ACR) and European League Against Rheumatism (Eular) gives a new impetus to the use and dissemination of the method. In this paper, we present a didactic, non-systematic review on the subject, with emphasis on advances recently described.

[Serum Clara cell 16-kDa protein (CC16) levels and lung impairment in systemic sclerosis patients]. / Níveis séricos de proteína de células de Clara de 16kDa (CC16) e comprometimento pulmonar em pacientes com esclerose sistêmica.

OBJECTIVE: To assess clinical utility of serum Clara cell 16-kDa protein (CC16) measurements in relation with staging system for systemic sclerosis associated interstitial lung disease (SSc-ILD). MATERIALS AND METHODS: Serum levels of CC16 were determined by ELISA in 28 SSc patients and 30 healthy controls, and correlated with staging system for SSc-ILD in SSc patients. Lung involvement was assessed functionally (body plethysmography, diffusing capacity of the lung for carbon monoxide) and radiologically (an average disease extent on high resolution computed tomography of the lungs, HRCT) in SSc patients. RESULTS: We observed statistically significant differences in serum CC16 levels between SSc patients and healthy controls only in non-smokers. However, serum CC16 concentrations were significantly elevated in patients with HRCT extent>20% in comparison to patients with HRCT extent<20% (p=0.01). They correlated positively with average disease extent on HRCT (p=0.04), an extent of a reticular pattern on HRCT (p<0.01), and negatively with a total lung capacity (TLC) (p=0.03) and the results of the 6-min walk test (p<0.01). CONCLUSIONS: CC16 levels can be considered as a supplemental serum biomarker for SSc-ILD.

[Autoantibodies in systemic sclerosis and their clinical correlation in patients from a Midwestern region of Brazil]. / Autoanticorpos em esclerose sistêmica e sua correlação com as manifestações clínicas da doença em pacientes do Centro-Oeste do Brasil.

INTRODUCTION: Systemic sclerosis (SSc) is a connective tissue disease of autoimmune nature characterized by the triad of vascular injury, autoimmunity (cellular and humoral) and tissue fibrosis. Autoantibodies do not seem to be simply epiphenomena, but are involved in disease pathogenesis. It is believed that the SSc-specific autoantibodies are responsible both for amplifying immune response and targeting cell types that are relevant in the pathophysiology of SSc. OBJECTIVES: To correlate the profile of the following specific autoantibodies: anti-centromere (ACA), anti-topoisomerase I (topo I) and anti-RNA polymerase III (RNAP III) with clinical and laboratory manifestations observed in 46 patients with SSc in the Midwest region of Brazil. METHODS: The occurrence of specific autoantibodies in 46 patients with SSc was investigated, correlating the type of autoantibody with clinical and laboratory manifestations found. RESULTS: Among all patients evaluated, we found a predominance of females (97.8%), mean age 50.21 years old, Caucasian (50%), limited cutaneous SSc (47.8%), time of diagnosis between 5-10 years (50%), and disease duration of 9.38 years. According to the specific autoantibody profile, 24 patients were ACA-positive (52.2%), 15 were positive for anti-topo I (32.6%), and 7 showed positive anti-RNAP III (15.2%). The anti-topo I autoantibody correlated with diffuse scleroderma, with greater disease severity and activity, with worse quality of life measured by the SHAQ index, with a higher prevalence of objective Raynaud's phenomenon and digital pitting scars of fingertips. The ACA correlated with limited scleroderma, with earlier onset of disease, as well as higher prevalence of telangiectasias. The anti- RNAP III correlated with diffuse scleroderma, with a higher occurrence of subjective Raynaud's phenomenon and muscle atrophy. There was no association between the positivity for anti-topo I, ACA and anti-RNAP III antibodies and other variables related to laboratory abnormalities, as well as Rodnan skin score and skin, vascular, musculoskeletal, gastrointestinal, cardiopulmonary and renal manifestations. CONCLUSIONS: The clinical subtype of the disease and some clinical manifestations in SSc may correlate positively with the presence of specific autoantibodies.

[Overlap between systemic sclerosis and rheumatoid arthritis: a distinct clinical entity?] / Sobreposição de esclerose sistêmica e artrite reumatoide: uma entidade clínica distinta?

INTRODUCTION: Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue characterized by the triad of vascular injury, autoimmunity (cellular and humoral) and tissue fibrosis. It is estimated that musculoskeletal pain is a common complaint of patients with SSc, ranging from 40 to 80%, and mainly in patients with early diffuse disease. Arthritis, clinically observed, may be a feature seen in the presentation of SSc, often leading to early diagnostic errors with rheumatoid arthritis (RA). In the course of the disease, arthritis is observed in 24 to 97% of patients with SSc. OBJECTIVES: To correlate the occurrence or nonoccurrence of arthritis in patients with SSc of the Midwest region of Brazil with possible distinct clinical and laboratory manifestations observed in three groups of patients. To report the frequency of true association between systemic sclerosis and rheumatoid arthritis in patients with clinically and radiologically observed synovitis. METHODS: Sixty-one SSc patients were subsequently assessed every 3 months within 1 year, in order to clinically observe the occurrence of synovitis and its patterns of progression. Patients were divided into 3 groups: 41 patients with SSc without arthritis, 16 SSc patients with arthritis and 4 patients with overlap of SSc and RA. All patients underwent a radiological examination of the hands at the end of the study. RESULTS: Among all patients evaluated, we found a female predominance (98.7%), mean age of 50.94 years, white color (49.2%), limited form of the disease (47.6%), time of diagnosis between 5 to 10 years (47.6%) and duration of the disease of 8.30 years. Among all patients, 14 (22.9%) had positive rheumatoid factor (RF), while among those with positive RF, only 10 patients had arthritis during one-year follow-up. The antibody anticitrulline (anti-CCP) test was performed in 24 patients, being positive in 4 of them (16.7%), with positivity being observed only in patients with SSc/RA overlap. Comparing the clinical manifestations among the groups of patients, there was a higher incidence of gastritis and cardiac valvulopathy in patients with SSc and arthritis, but not in the others. In the group of patients with SSc/RA overlap and in patients with SSc and arthritis a significant reduction in quality of life was observed, measured by HAQ index, especially in patients with arthritis present during clinical evaluation. We found radiographic changes in 42.6% of patients with SSc. However, in patients with synovitis, radiological changes consistent with rheumatoid arthritis were found in 50% of patients. CONCLUSIONS: While the frequency of clinical arthritis observed in patients with systemic sclerosis was 32.8%, the true overlap between of SSc and RA was 6.6% in this study. We also observed the frequency of positive anti-CCP in 20% of patients with arthritis versus no patients with SSc without arthritis.

Evaluation of quality of life, functionality and disability in patients with systemic sclerosis in a university hospital / Avaliação da qualidade de vida, funcionalidade e deficiência em pacientes com esclerose sistêmica em um hospital universitário

INTRODUCTION: Systemic sclerosis (SSc) is a chronic autoimmune disease characterized by progressive fibrosis of the skin and internal organs that promotes high morbidity and mortality. OBJECTIVE: To evaluate the functionality, disability and quality of life of patients with systemic sclerosis and to compare the clinical forms of the disease. METHODS: Cross-sectional, descriptive and analytical study performed at the Rheumatology Clinic of the Hospital das Clínicas of the Federal University of Pernambuco (HC-UFPE) from August 2018 to April 2019. The non-probabilistic, convenience sample consisted of 60 patients diagnosed with systemic sclerosis (SSc), followed at the Rheumatology outpatient clinic of the Hospital das Clínicas, Federal University of Pernambuco. To evaluate the outcomes, the following instruments were used: Cochin Hand Functional Scale (CHFS) for hand function; 12-Item Short-Form Health Survey (SF-12) for quality of life; and Scleroderma Health Assessment Questionnaire (SHAQ) for functionality and disability. RESULTS: The mean results for CHFS, SHAQ, SF-12 Physical Component Summary and SF-12 Mental Component Summary were 14.5 (6.0-29.75), 1.01±0.56, 35.04±8.09, 40.94±10.56, respectively. There were no significant differences in CHFS outcomes between patients with diffuse and limited forms of SSc, SHAQ and the mental component of SF-12. However, in the physical component of SF-12, a better score was found in patients with the diffuse form of the disease (p=0.04). CONCLUSION: Patients with SSc present an important impairment of hand function, quality of life and functional capacity, and those with limited cutaneous form present worse scores of the physical component in the evaluation of quality of life.

INTRODUÇÃO: A esclerose sistêmica (ES) é uma doença autoimune crônica que se caracteriza por fibrose progressiva da pele e órgãos internos, promovendo grande morbimortalidade. OBJETIVO: Avaliar a funcionalidade, incapacidade e qualidade de vida em pacientes com esclerose sistêmica e comparar as formas clínicas da doença. MÉTODOS: Estudo transversal, descritivo e analítico, realizado na Clínica de Reumatologia do Hospital das Clínicas da Universidade Federal de Pernambuco (HC-UFPE), de agosto de 2018 a abril de 2019. A amostra não probabilística do tipo conveniência foi composta por 60 pacientes com diagnóstico de ES, acompanhados no ambulatório de Reumatologia do Hospital das Clínicas da Universidade Federal de Pernambuco. Para avaliar os resultados, foram utilizados os seguintes instrumentos: Escala Funcional da Mão de Cochin (CHFS) para função da mão; 12-Item Short-Form Health Survey (SF-12) para qualidade de vida; Questionário de Avaliação de Saúde da Esclerodermia (SHAQ) para funcionalidade e incapacidade. RESULTADOS: Os resultados médios para CHFS, SHAQ, SF-12 componente físico e SF-12 componente mental foram 14,5 (6,0-29,75), 1,01±0,56; 35,04±8,09; 40,94±10,56, respectivamente. Não houve diferenças significativas nos resultados do CHFS entre pacientes com formas difusas e limitadas de ES, SHAQ e o componente mental do SF-12. No entanto, no componente físico do SF-12, foi encontrado melhor escore dos pacientes com a forma difusa da doença (p=0,04). CONCLUSÃO: Pacientes com ES apresentam comprometimento importante da função da mão, qualidade de vida e capacidade funcional, e aqueles com forma cutânea limitada apresentam piores escores do componente físico na avaliação da qualidade de vida.

[Hashimoto thyroiditis may be associated with a subset of patients with systemic sclerosis with pulmonary hypertension]. / Tireoidite de Hashimoto pode estar associada a um subgrupo de pacientes de esclerose sistêmica com hipertensão pulmonar.

INTRODUCTION: Recent studies show an association between autoimmune thyroiditis and systemic sclerosis (SSc) and suggest that this condition may interfere with the ES phenotype. However these studies evaluate the autoimmune thyroiditis as a whole and none of them specifically addresses Hashimoto's thyroiditis (HT) in SSc. OBJECTIVE: To investigate the presence of HT in SSc patients and its possible association with disease manifestations. METHODS: Clinical manifestations of hypothyroidism, TSH and anti-thyroid auto antibodies (anti-TPO. anti TBG and TRAb) were studied in 56 patients with SSc. SSc patients with HT were compared with SSc patients without thyroiditis. RESULTS: HT was observed in 19.64% of patients with SSc. No association was observed between HT and the different forms of disease or profile of autoantibodies. Likewise, there was no difference between the mean modified Rodnan score and presence of Raynaud's phenomenon, scars, digital necrosis, myositis, arthritis, sicca symptoms, esophageal dysmotility and scleroderma renal crisis when the groups were compared. On the other hand, patients with HT had higher frequency of pulmonary hypertension in relation to patients without HT (66.6% vs 22.5%, p=0.016). CONCLUSIONS: In the studied sample patients with ES and HT had higher prevalence of pulmonary hypertension. Long-term follow-up studies with a larger number of TH and SSc patients are needed to confirm these data.