ABSTRACT
Introducción: La esclerosis sistémica es una enfermedad rara de la cual existe información limitada en el Centro de Referencia de Enfermedades Reumáticas de la Habana. Objetivo: Describir las características clínico-epidemiológicas de los pacientes atendidos con este diagnóstico en el período comprendido entre noviembre del año 2017 a marzo del año 2019. Métodos: Se realizó un estudio observacional descriptivo, transversal en 73 pacientes. Se evaluaron variables sociodemográficas como la edad, sexo, color de la piel, nivel educacional y ocupación, variables clínicas como forma de presentación y tiempo de diagnóstico de la enfermedad, manifestaciones clínicas, las comorbilidades asociadas y el tratamiento. Resultados: El 57,5 por ciento presentó la forma difusa de la enfermedad y el 48,8 por ciento tenían más de 10 años de diagnóstico. La afectación digestiva en el 94,5 por ciento, la osteomioarticular en el 89,0 por ciento y las cardiovasculares en el 87,7 por ciento fueron las más representadas por órganos y sistemas. Conclusiones: Predominó la forma difusa de la enfermedad, los enfermos con más de 10 años de diagnóstico y la afectación cutánea, digestiva y osteomioarticulares. La HTA seguida de la fibromialgia fueron las comorbilidades más identificadas. Los anti cálcicos, IECA, esteroides y el Metotrexate fueron los fármacos más utilizados en el tratamiento(AU)
Introduction: Systemic sclerosis is a rare disease for which there is limited information in the Reference Center for Rheumatic Diseases of Havana. Objective: To describe the clinical-epidemiological characteristics of the patients treated with this diagnosis in the period from November 2017 to March 2019. Methods: A descriptive, cross-sectional observational study was carried out in 73 patients. Sociodemographic variables such as age, sex, skin color, educational level and occupation, clinical variables such as form of presentation and time of diagnosis of the disease, clinical manifestations, associated comorbidities and treatment were evaluated. Results: 57.5 percent presented the diffuse form of the disease and 48.8 percent had more than 10 years of diagnosis. Digestive involvement in 94.5 percent, osteomyoarticular disease in 89.0 percent, and cardiovascular disease in 87.7 percent were the most represented by organs and systems. Conclusions: The diffuse form of the disease predominated, patients with more than 10 years of diagnosis and skin, digestive and osteomyoarticular involvement. HT followed by fibromyalgia were the most identified comorbidities. Anti-calcium, ACEI, steroids and Methotrexate were the drugs most used in treatment(AU)
Subject(s)
Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/epidemiology , Epidemiology, Descriptive , Cross-Sectional StudiesABSTRACT
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)
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Young Adult , Pulmonary Fibrosis/complications , Scleroderma, Systemic/diagnosis , Ventricular Function, Right , Lung Diseases, Interstitial/diagnosis , Thorax/diagnostic imaging , Tricuspid Valve Insufficiency/complications , Echocardiography, Doppler/methods , Tomography, X-Ray Computed/methodsABSTRACT
La enfermedad indiferenciada del tejido conectivo es una condición de etiología desconocida que comparte características clínicas, patológicas y de laboratorio de varias colagenosis, sin cumplir los criterios del Colegio Americano de Reumatología para el diagnóstico de una enfermedad reumática específica y muchos pacientes evolucionan a condiciones definidas a lo largo del tiempo tales como Lupus, Esclerosis sistémica progresiva, Enfermedad de Sjögren entre otros. Antecedentes: Linfoma Hodgkin diagnosticado desde 2012 para lo cual recibió múltiples esquemas de quimioterapia. Las muestras de ganglio y médula ósea se habían enviado al laboratorio de Inmunopatologia de la Universidad de Stanford y allí no se apreciaron hallazgos compatibles con enfermedad linfoproliferativa. Enfermedad actual: Mujer de 27 años de edad con cuadro clínico de 1 mes de evolución, caracterizado por edema blando en miembros inferiores acompañado de edema palpebral matutino; concomitantemente presenta aumento de temperatura intermitente sin patrón especifico y dolor osteomuscular generalizado con limitación para la deambulación. Se ingresa. Al examen físico, regulares condiciones clínicas. En la piel se aprecia engrosamiento cutáneo importante. Se realizó biopsia cutánea y los hallazgos fueron compatibles con Esclerosis Sistémica(AU)
Undifferentiated connective tissue disease is a condition of unknown etiology that shares clinical, pathological and laboratory characteristics of several collagenopathies that do not meet the criteria of the American College of Rheumatology for the diagnosis of a specific disease; a large number of patients evolve to conditions defined over time such as Lupus, Systemic Sclerosis, Sjogren's Disease, among others. Past history: Hodgkin lymphoma was diagnosed since 2012 for which she received multiple chemotherapy schemes. A gland biopsy was sent to the Stanford University, as well as a bone marrow sample, and lymphoma was discarded. Present history: this 27-year-old female consulted for edema in lower limbs present during one month, accompanied by eyelid edema in the mornings; also fever without a specific pattern, myalgias and arthralgias. On physical examination, the skin was thickened and limb edema was present. A skin biopsy was performed, and the findings were consistent with Systemic Sclerosis. The patient is receiving cyclophosphamide and Azathioprine and leading her normal life(AU)
Subject(s)
Rheumatology , Scleroderma, Systemic/diagnosis , Undifferentiated Connective Tissue Diseases/physiopathology , Hematologic Diseases , Biopsy , Diagnostic ImagingABSTRACT
Introdução: A Hipertensão Arterial Pulmonar está associada a uma ampla gama de doenças, sendo comum nas doenças do tecido conjuntivo. Porém, um dos maiores desafios diagnósticos em relação à Hipertensão Arterial Pulmonar inclui doenças do tecido conjuntivo clinicamente não identificadas ou tardiamente evidenciadas, principalmente Esclerose Sistêmica. Objetivos: Relatar casos de Hipertensão Arterial Pulmonar secundária à Esclerose Sistêmica que inicialmente foi classificada como Idiopática. Materiais e métodos: Estudo observacional analítico transversal no qual sete pacientes com diagnóstico de Hipertensão Arterial Pulmonar Idiopática foram avaliados quanto ao quadro clínico, exame físico, pesquisa de autoanticorpos e capilaroscopia periungueal na busca de critérios que os classificassem como Esclerose Sistêmica. Resultados: Todos os pacientes preencheram os Critérios Classificatórios para Esclerose Sistêmica ACR/EULAR 2013, sendo que Fenômeno de Raynaud, telangiectasias e positividade de autoanticorpos estiveram presentes em 100% dos casos. A maioria dos pacientes apresentava Esclerose Sistêmica forma cutânea limitada. Conclusões: A determinação do diagnóstico de Hipertensão Arterial Pulmonar secundária à Esclerose Sistêmica é fundamental, pois tais pacientes têm menor sobrevida quando comparados aos casos Idiopáticos. A presença de Fenômeno de Raynaud tem grande relevância no diagnóstico dos pacientes com Hipertensão Arterial Pulmonar associada à Esclerose Sistêmica.
Introduction: Pulmonary Arterial Hypertension is associated with a wide range of diseases. It is common in connective tissue diseases. However, one of the major diagnostic challenges in relation to Pulmonary Arterial Hypertension includes clinically unidentified or late-onset diseases of the connective tissue, mainly Systemic Sclerosis. Objectives: To report cases of Pulmonary Arterial Hypertension secondary to Systemic Sclerosis, which was initially classified as Idiopathic. Patients and methods: We carried out a cross-sectional observational study in which seven patients with a diagnosis of Idiopathic Pulmonary Arterial Hypertension was evaluated for clinical examination, physical examination, autoantibody and nailfold capillaroscopy examination in search of criteria that reclassified them as Systemic Sclerosis. Results: All patients met the Classification Criteria for Systemic Sclerosis ACR/EULAR 2013, with Raynaud's Phenomenon, telangiectasia and autoantibody positivity being present in 100% of the cases. The majority of patients presented limited cutaneous Systemic Sclerosis. Conclusions: The diagnosis of Pulmonary Arterial Hypertension secondary to Systemic Sclerosis is essential, considering the association with lower survival when compared to the idiopathic cases. The presence of Raynaud's Phenomenon has an important relevance in the diagnosis of patients with Pulmonary Arterial Hypertension associated with Systemic Sclerosis.
Subject(s)
Humans , Male , Female , Aged , Scleroderma, Systemic/diagnosis , Connective Tissue/physiopathology , Hypertension, Pulmonary/etiologyABSTRACT
Abstract Nailfold capillaroscopy (NFC) is a reproducible, simple, low-cost, and safe imaging technique used for morphological analysis of nail bed capillaries. It is considered to be extremely useful for the investigation of Raynaud's phenomenon and for the early diagnosis of systemic sclerosis (SSc). The capillaroscopic pattern typically associated with SSc, scleroderma ("SD") pattern, is characterized by dilated capillaries, microhemorrhages, avascular areas and/or capillary loss, and distortion of the capillary architecture. The aim of these recommendations is to provide orientation regarding the relevance of NFC, and to establish a consensus on the indications, nomenclature, the interpretation of NFC findings and the technical equipments that should be used. These recommendations were formulated based on a systematic literature review of studies included in the database MEDLINE (PubMed) without any time restriction.
Subject(s)
Humans , Scleroderma, Systemic/diagnosis , Practice Guidelines as Topic , Coronary Vasospasm/diagnosis , Microscopic Angioscopy/instrumentation , Scleroderma, Diffuse/diagnosisABSTRACT
RESUMO Objetivo Descrever as queixas e alterações auditivas em indivíduos com esclerose sistêmica (ES), bem como verificar a evolução do quadro audiológico. Método Trata-se de estudo seccional, com uma fase prospectiva, realizado no período de 2012 e 2015, com pacientes com diagnóstico médico de ES. Foram coletados dados sociodemográficos, ano de início da doença, ano de diagnóstico e subtipo da enfermidade. Posteriormente, foram realizadas a anamnese audiológica, para identificação de queixas e sintomas e para a investigação de realização de audiometria pregressa ao estudo, e, em seguida, a avaliação audiológica básica. Resultados Participaram do estudo 50 indivíduos. Tontura e zumbido foram os sintomas mais frequentes. A perda auditiva foi identificada em 23 (46%) indivíduos, sendo a maioria do tipo sensorioneural, de grau e configurações variáveis. A análise dos limares auditivos obtidos na avaliação audiológica realizada em 2012 e, posteriormente, em 2015 indicou desencadeamento ou progressão da perda auditiva, com piora de 10dB na maioria das frequências avaliadas, sendo mais expressiva nas frequências agudas. Conclusão Elevada frequência de queixas e alterações auditivas em indivíduos com ES e desencadeamento e/ou progressão da perda auditiva naqueles que realizaram avaliação audiológica sequencial.
ABSTRACT Purpose Describe hearing complaints and alterations in individuals with systemic sclerosis (SS) and to verify the development of audiological manifestations. Methods This is a cross-sectional study with a prospective phase, conducted in the period from 2012 to 2015, with patients with medical diagnosis of SS. Sociodemographic data, year of disease onset, year of diagnosis and disease subtype were collected. Later, audiological anamnesis was performed to identify complaints and symptoms and to investigate the performance of audiometry before the study and, after that, a basic audiological evaluation was conducted. Results Fifty individuals participated in the study. Dizziness and tinnitus were the most frequent symptoms. Hearing loss was identified in 23 (46%) individuals; most of them were of sensorineural type, of variable degrees and configurations. The analysis of hearing thresholds obtained in the audiological evaluation performed in 2012 and, later, in 2015, indicated onset or progression of hearing loss, with aggravation of 10dB in most frequencies evaluated, being more expressive in acute frequencies. Conclusion High rate of hearing complaints and alterations in individuals with SS and onset and/or progression of hearing loss in those who underwent serial audiological evaluation were observed.
Subject(s)
Humans , Male , Female , Adult , Aged , Scleroderma, Systemic/complications , Hearing Loss, Sensorineural/etiology , Scleroderma, Systemic/diagnosis , Auditory Threshold , Tinnitus/diagnosis , Tinnitus/etiology , Vertigo/diagnosis , Vertigo/etiology , Cross-Sectional Studies , Prospective Studies , Symptom Assessment , Hearing Loss, Sensorineural/diagnosis , Hearing Tests , Middle AgedABSTRACT
La Esclerodermia es una patología poco frecuente que afecta principalmente la piel, de ahí su nombre. Desde ese punto de vista existen diferentes clasificaciones siendo las más frecuentes: forma Difusa y Limitada. Existe también otra forma de presenta-ción, muy infrecuente y difícil de identificar: la esclerosis sistémica sin esclerodermia (eSSe). En este reporte presentamos el caso de una paciente de 50 años, que cursa con injuria renal aguda de origen inexplicado con algunos elementos de laboratorio de microangiopatía trombótica, sin clínica sugerente de esclerosis sistémica progre-siva y con laboratorio inicial difícil, lo que retrasó el diagnóstico y por ende el trata-miento. En este caso se obtiene el diagnóstico de crisis renal esclerodérmica, por los hallazgos compatibles de microangiopatía trombótica arrojados por la biopsia renal.
Systemic sclerosis is a rare connective tissue disease that is characterized by thickening of the skin (scleroderma). The disease has 2 main presentations forms: diffuse and limited. However, it can also manifest without scleroderma, known as systemic sclerosis sine scleroderma (ssSSc). In this report, we describe the case of a 50 years female who debut with acute renal injury and possible microangiopathy thrombotic elements in laboratory findings, in absence of signs of scleroderma at physical examination or initial laboratory test results, causing the delay of accurate diagnosis and management. Renal biopsy findings were compatible with thrombotic microangiopathy and renal sclerodermic crisis, which guided the diagnosis and subsequent management.
Subject(s)
Humans , Female , Middle Aged , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/therapy , Scleroderma, Systemic/classification , Scleroderma, Systemic/mortality , Scleroderma, Systemic/pathology , Acute Kidney Injury , Kidney/pathologySubject(s)
Humans , Female , Child , Scleroderma, Systemic/complications , Glomerulosclerosis, Focal Segmental/etiology , Nephrotic Syndrome/etiology , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/drug therapy , Glomerulosclerosis, Focal Segmental/diagnosis , Methotrexate/administration & dosage , Immunosuppressive Agents/administration & dosage , Nails/blood supply , Nephrotic Syndrome/diagnosis , Nephrotic Syndrome/pathologySubject(s)
Humans , Male , Aged , Leprosy/diagnosis , Scleroderma, Systemic/diagnosis , Biopsy , Diagnostic Errors , Hand/innervation , Hand/diagnostic imaging , Leprosy/physiopathologyABSTRACT
Antecedentes. La esclerosis sistémica sin esclerodermia es una variante rara de la esclerosis sistémica limitada en la que los pacientes no presentan manifestaciones cutáneas importantes. Caso clínico. Se presenta caso de paciente femenina en la sexta década de la vida sin antecedentes patológicos de importancia que presentaba Síndrome de Raynaud, fotosensibilidad y pares- tesias en manos; al examen físico estertores finos e induración leve de la piel de los dedos, se sospechaba enfermedad del colágeno y se realizaron exámenes de laboratorio que confirmaron diagnóstico de Esclerosis Sistémica sin esclerodermia, ya que presentaba mayores manifestaciones cardiopulmonares. Inició tratamiento con esteroides sistémicos pero se complicó con Neumonitis Intersticial tratada con Azatriopina e Hipertensión pulmonar manejada con Sildenafil. También se comenzó Rituximab, como terapia de artritis reumatoide diagnosticada posteriormente. Ha presentado leve mejoría en el patrón pulmonar restrictivo por lo que el tratamiento con Rituximab aún persiste. Paciente con buena evolución clínica y exámenes de laboratorio control dentro de los rangos normales, sin embargo función pulmonar continúa alterada, pero sin modificar actividades diarias. Conclusión: La caracterización de la enfermedad es vital, actualmente se cuenta con criterios diagnósticos más certeros para orientar el manejo adecuado dentro de una amplia gama de posibilidades terapéuticas...(AU)
Subject(s)
Humans , Female , Middle Aged , Lung Diseases, Interstitial , Pulmonary Heart Disease/complications , Raynaud Disease , Scleroderma, Systemic/diagnosisABSTRACT
Contexto: Silicose é uma doença pulmonar ocupacional crônica, fibrogênica, de evolução lenta, caráter progressivo e irreversível, causada pela exposição à sílica livre. Esclerose sistêmica (ES) é uma doença de caráter autoimune, com alterações vasculares e fibrose tecidual difusa. Associação entre ambas, denominada síndrome de Erasmus, já é conhecida há vários anos e geralmente ocorre após 15 anos do início da exposição à sílica. Objetivo: Revisão da literatura referente à associação entre silicose e ES. Método: Selecionados artigos nacionais e internacionais obtidos na íntegra, referentes à pneumoconiose, silicose, ES e a associação entre essas duas últimas doenças, sendo incluídos aos resultados os manuscritos que abrangiam especificamente a síndrome de Erasmus. Resultados: Encontrados na literatura nacional relatos de casos de síndrome de Erasmus, os quais apresentavam ES e exposição prévia à sílica com duração que variou de 2 a 15 anos, atividade laboral interrompida há mais de 7 anos, pacientes do sexo masculino, média de idade 46 anos, sendo a principal atividade jateamento de areia; e havia relato em 3 casos de uso inapropriado de equipamentos de proteção. Entre os cinco casos em que a tuberculose foi investigada, três apresentaram a associação entre tuberculose pulmonar e síndrome de Erasmus. Conclusão: Importância do reconhecimento precoce da associação entre silicose e ES, dando ênfase na história ocupacional. O diagnóstico da síndrome de Erasmus por pneumologistas, reumatologistas e médicos do trabalho permitirá intervenções mais efetivas e um tratamento precoce, que proporcionarão um melhor prognóstico para esses pacientes.
Context: Silicosis is a chronic occupational lung disease, fibrogenic, slowly evolving, progressive and irreversible, caused by the exposure to silica. Systemic sclerosis (SSc) is an autoimmune disease with vascular changes and diffuse tissue fibrosis. The association between both, called Erasmus syndrome, has been known for several years and usually occurs after 15 years from the beginning of exposure to silica. Objective: To review the literature regarding the association between silicosis and SSc, known as Erasmus syndrome. Method: Selected national and international articles retrieved in full, related to pneumoconiosis, silicosis, SSc and the association between these two last diseases; manuscripts which specifically dealt Erasmus syndrome were included in the results. Results: Reports of Erasmus syndrome were found in the national literature, which presented SSc and previous exposure to silica with duration ranging from 2 to 15 years of exposure, interrupted employment business for over 7 years, male patients, mean age of 46 years, being the main activity sandblasting, and 3 cases of improper use of protective equipment were reported. Among the five cases in which tuberculosis was investigated, three showed the association between pulmonary tuberculosis and Erasmus syndrome. Conclusion: Importance of early recognition of the association between silicosis and SSc, with emphasis on occupational history. The diagnosis of Erasmus syndrome by pulmonologists, rheumatologists and occupational physicians will enable more effective interventions and early treatment, which will provide a better prognosis for these patients.
Subject(s)
Pneumoconiosis/diagnosis , Scleroderma, Systemic/diagnosis , Silicosis/diagnosis , Occupational Health , Occupational Diseases/prevention & controlABSTRACT
Objetivo: Evaluar cumplimiento, y así mismo concordancia y discordancia de los criterios de clasificación de Esclerosis Sistémica (ES) ACR/EULAR 2013 y ACR 1980 en pacientes con diagnóstico clínico de la enfermedad. Método: Se incluyeron 169 pacientes con diagnóstico de Esclerosis Sistémica. Resultados: El 72,2 por ciento cumplía los criterios ACR 1980, y el 99,4 por ciento (168 pacientes) cumplía los criterios ACR/EULAR 2013. La concordancia absoluta de toda la muestra fue 72,7 por ciento, para el subtipo limitado 35,2 por ciento, y 100 por ciento el difuso. Se subanalizaron los pacientes con limitada que sólo cumplían criterios ACR/EULAR 2013, y se comparó con el resto de las limitadas. Los primeros presentaron en forma estadísticamente significativa menor esclerodactilia distal a MCF, menor presencia de úlceras digitales y pitting scars, menor afectación intersticial pulmonar, y mayor daño microvascular en la capilaroscopia. Conclusión: Los nuevos criterios de clasificación de Esclerosis Sistémica serían más adecuados para detectar esclerodermias limitadas, siendo dicho hallazgo estadísticamente significativo.
Objective: To evaluate the performance, and likewise concordance and discordance of the classification criteria of Systemic Sclerosis ACR/EULAR 2013 and ACR 1980 in a group of patients with clinical diagnosis of SSc. Methods: We enrolled 169 patients with diagnosis of Systemic Sclerosis. Results: 72.2 percent met the 1980 ACR criteria, and 99.4 percent met the ACR/EULAR 2013 criteria. The absolute agreement of the entire sample was 72.7 percent, 35.2 percent for the limited subtype, and 100 percent for the diffuse. Those patients with limited subtype who only met the ACR/EULAR 2013 criteria were compared with the rest of limited patients. The first group had statistically significantly lower sclerodactyly distal to MCF, lower presence of digital ulcers and pitting scars, less interstitial lung involvement, and greater abnormal nail fold capillaries. Conclusion: The new classification criteria for systemic sclerosis seem to be more suitable for detecting limited scleroderma. In the present study, statistically significant discrepancy was found in the limited subtype.
Subject(s)
Humans , Male , Adult , Female , Middle Aged , Aged , Scleroderma, Systemic/classification , Scleroderma, Systemic/diagnosis , Multicenter Studies as Topic , Retrospective StudiesABSTRACT
Vasculitides comprise a heterogeneous group of autoimmune disorders, occurring as primary or secondary to a broad variety of systemic infectious, malignant or connective tissue diseases. The latter occur more often but their pathogenic mechanisms have not been fully established. Frequent and varied central and peripheral nervous system complications occur in vasculitides and connective tissue diseases. In many cases, the neurological disorders have an atypical clinical course or even an early onset, and the healthcare professionals should be aware of them. The purpose of this brief review was to give an update of the main neurological disorders of common vasculitis and connective tissue diseases, aiming at accurate diagnosis and management, with an emphasis on pathophysiologic mechanisms.
As vasculites são um grupo heterogêneo de doenças autoimunes primárias ou secundárias a uma grande variedade de doenças infecciosas sistêmicas, malignas ou do tecido conjuntivo. Estas últimas são as que ocorrem com mais frequência, porém os mecanismos patogênicos ainda não foram plenamente determinados. Diversas e frequentes complicações do sistema nervoso central e periférico ocorrem nas vasculites e doenças do tecido conjuntivo. Em muitos casos, os distúrbios neurológicos têm evolução clínica atípica ou mesmo início precoce, ao que todos os profissionais de saúde devem estar cientes. O objetivo desta breve revisão foi atualizar os principais distúrbios neurológicos da vasculite comum e das doenças do tecido conjuntivo, visando ao diagnóstico e ao tratamento corretos, com ênfase nos mecanismos fisiopatológicos.
Subject(s)
Humans , Autoimmune Diseases/complications , Connective Tissue Diseases/complications , Vasculitis/complications , Arthritis, Rheumatoid/complications , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/physiopathology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/physiopathology , Behcet Syndrome/complications , Behcet Syndrome/diagnosis , Behcet Syndrome/physiopathology , Churg-Strauss Syndrome/complications , Churg-Strauss Syndrome/diagnosis , Churg-Strauss Syndrome/physiopathology , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/physiopathology , Giant Cell Arteritis/complications , Giant Cell Arteritis/diagnosis , Giant Cell Arteritis/physiopathology , Granulomatosis with Polyangiitis/complications , Granulomatosis with Polyangiitis/diagnosis , Granulomatosis with Polyangiitis/physiopathology , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Lupus Erythematosus, Systemic/physiopathology , Polyarteritis Nodosa/complications , Polyarteritis Nodosa/diagnosis , Polyarteritis Nodosa/physiopathology , Scleroderma, Systemic/complications , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/physiopathology , Sjogren's Syndrome/complications , Sjogren's Syndrome/diagnosis , Sjogren's Syndrome/physiopathology , Takayasu Arteritis/complications , Takayasu Arteritis/diagnosis , Takayasu Arteritis/physiopathology , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/physiopathology , Vasculitis/diagnosis , Vasculitis/physiopathologySubject(s)
Humans , Male , Female , Scleroderma, Systemic/diagnosis , Autoantibodies/therapeutic useABSTRACT
The capillaroscopy is an easy and non invasive tool that allows an accurate study of the microcirculation. It has gained over the years a space in the rheumatology community, being currently a fundamental method for the diagnosis and management of connective tissue disease (CTD), in particular systemic sclerosis. Currently it is possible to demonstrate a correlation between the microvascular alterations and the diagnosis and prognosis of the ETC. In this point of view work we provide a practical description of the utility of capillaroscopy in the ETC describing also the characteristic pathologic findings and mentioning technical details for a correct execution of the examination...
La capilaroscopia es una técnica sencilla y no invasiva que permite un correcto y minucioso estudio de los vasos de la microcirculación. Ésta ha ido ganando a lo largo de los últimos años un espacio en la comunidad reumatológica hasta el punto de ser, actualmente, considerada un método fundamental para el diagnóstico y manejo de las enfermedades del tejido conectivo (ETC), en particular la esclerosis sistémica. Actualmente es posible establecer y demostrar una correlación entre las alteraciones capilaroscópicas y el diagnóstico y pronóstico de las ETC. En este trabajo de punto de vista se provee una descripción práctica de la utilidad de la capilaroscopia en las ETC, describiendo los hallazgos patológicos característicos y mencionando detalles técnicos para una correcta ejecución del examen...
Subject(s)
Humans , Raynaud Disease/diagnosis , Raynaud Disease/physiopathology , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/physiopathology , Microscopic Angioscopy/methods , Capillaries/pathology , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/physiopathology , MicrocirculationABSTRACT
Videocapillaroscopy (VCP) is a consolidated imaging technique that helps the clinician in the assessment of connective tissue disorders (CTD). Their findings have demonstrated predictive value, and a potential role in the differential diagnosis and treatment monitoring of CTD. To date, the scleroderma pattern has been described mainly in CTD. We describe two cases in which the presence of scleroderma pattern, evidenced by ATP, is not only present in CTD.
La videocapilaroscopia (VCP) es una técnica de imagen fácil, inocua y sencilla que se ha consolidado como ayuda diagnóstica para las enfermedades del tejido conectivo. Los hallazgos de VCP demostraron tener valor predictivo de patología microangiopática, siendo útil para el diagnóstico diferencial, seguimiento y monitoreo de respuesta al tratamiento. La presencia de patrón esclerodérmico hasta ahora ha sido descrita en patologías asociadas al tejido conectivo. Presentamos dos casos clínicos en los cuales la presencia de patrón esclerodérmico evidenciado por medio de la VCP no es exclusiva de las enfermedades del tejido conectivo.
Subject(s)
Humans , Female , Adult , Aged , Microscopic Angioscopy/methods , Capillaries/pathology , Connective Tissue Diseases/diagnosis , Scleroderma, Systemic/diagnosis , Microscopy, VideoABSTRACT
Systemic sclerosis is a connective tissue disease characterized by alterations in microvascular structure and function. In these patients, numerous studies have demonstrated a relationship between capillary morphology and peripheral blood perfusion. Nailfold videocapillaroscopy reveals the peripheral microvascular morphology and thus allows classification and scoring of capillary abnormalities with respect to different microangiopathy patterns (early, active, and late). Laser Doppler flowmetry and laser speckle contrast analysis can be used to estimate cutaneous blood flow through microvessels and to assess and quantify blood perfusion at peripheral sites. These two methods are also used to identify changes in digital blood perfusion after the infusion of vasodilators.
Subject(s)
Humans , Blood Flow Velocity , Laser-Doppler Flowmetry , Microcirculation , Microscopic Angioscopy/methods , Microvessels/pathology , Nails , Predictive Value of Tests , Regional Blood Flow , Scleroderma, Systemic/diagnosis , Skin/blood supply , Vasodilator Agents , Video RecordingABSTRACT
INTRODUCCIÓN: La capilaroscopia se emplea para la diferenciación del fenómeno de Raynaud puede ser primario o secundario, este último en una alta proporción es la manifestación más temprana de la Esclerosis Sistémica, entro otras enfermedades autoinmunes. Esta diferenciación se realiza, a través de la identificación de los patrones, considerando un patrón normal como FR primario y un patrón de esclerodermia como uno de los hallazgos para realizar el diagnóstico de ES ya sea temprana, activa o tardía. El diagnóstico de estos patrones modifica el pronóstico de la enfermedad. OBJETIVO: realizar una revisión, apreciación crítica y síntesis de la evidencia disponible sobre la validez y utilidad de la capilaroscopia para el diagnóstico de esclerosis sistémica. METODOLOGÍA: la evaluación fue realizada de acuerdo con un protocolo definido a priori por el grupo desarrollador. Se realizó una búsqueda sistemática en MEDLINE, EMBASE, Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects, LILACS y Google, sin restricciones de idioma, fecha de publicación y tipo de estudio. Las búsquedas electrónicas fueron hechas en octubre de 2014 y se complementaron mediante búsqueda manual en bola de nieve y una consulta con expertos temáticos. La tamización de referencias se realizó por dos revisores de forma independiente y los desacuerdos fueron resueltos por consenso. La selección de estudios fue realizada mediante la revisión en texto completo de las referencias preseleccionadas, verificando los criterios de elegibilidad predefinidos. Las características y hallazgos de los estudios fueron extraídos a partir de las publicaciones originales. RESULTADOS: se identificó evidencia proveniente de 5 estudios primarios (cohortes prospectivas y retrospectivas). En pacientes con fenómeno de Raynaud la capilaroscopia tiene un rango de sensibilidad de 0.85 a 0.95, y especificidad de 0.75 a 0.92, para la identificación del patrón de esclerosis. CONCLUSIONES: la capilaroscopia es útil para el diagnóstico de Esclerosis Sistémica en pacientes con fenómeno de Raynaud, y de manera relevante para el diagnóstico temprano de la enfermedad. De igual manera permite clasificar el tipo de ES. El riesgo global de sesgo de los estudios es bajo y sus resultados son consistentes con lo descrito en la literatura de manera general.(AU)
Subject(s)
Humans , Scleroderma, Systemic/diagnosis , Microscopic Angioscopy/methods , Cost-Benefit Analysis , Colombia , Early DiagnosisABSTRACT
CONTEXT AND OBJECTIVE: Systemic sclerosis is an autoimmune disease characterized by abnormalities of vascularization that may cause fibrosis of the skin and other organs and lead to dysfunction. It is therefore essential to have tools capable of evaluating function in individuals with this condition. The aim of this study was to translate the Scleroderma Health Assessment Questionnaire (SHAQ) into Portuguese, adapt it to Brazilian culture and test its validity and reliability. DESIGN AND SETTING: The validation of SHAQ followed internationally accepted methodology, and was performed in university outpatient clinics. METHODS: SHAQ was translated into Portuguese and back-translated. In the cultural adaptation phase, it was applied to 20 outpatients. Items not understood by 20% of the patients were modified and applied to another 20 outpatients. Twenty patients were interviewed on two different occasions to determine the validity and reliability of the questionnaire: two interviewers on the first occasion and one interviewer 14 days later. To determine the external validity, comparisons were made with Health Assessment Questionnaire (HAQ), Disabilities of the Arm, Shoulder and Hand (DASH) and short form-36 (SF-36). RESULTS: In the interobserver evaluation, Pearson's correlation coefficient and the intraclass correlation coefficient were both 0.967. In the intraobserver evaluation, Pearson's correlation coefficient was 0.735 and the intraclass correlation coefficient was 0.687. Regarding external validity, SHAQ scores were statistically correlated with all measurements, except the general health domain of SF-36 and the work-related score (Q2) of DASH. CONCLUSION: The Brazilian version of SHAQ proved to be valid and reliable for assessing function in patients with diffuse systemic sclerosis. .
CONTEXTO E OBJETIVO: A esclerose sistêmica (ES) é uma doença autoimune caracterizada por anormalidades da vascularização, que podem gerar fibrose da pele e outros órgãos, podendo levar a disfunção. Assim, torna-se imprescindível a elaboração de instrumentos capazes de avaliar a função de indivíduos com ES. O objetivo deste estudo foi traduzir para o português, adaptar à cultura brasileira e testar a validade e confiabilidade do Scleroderma Health Assessment Questionnaire (SHAQ). TIPO DE ESTUDO E LOCAL: A validação do SHAQ seguiu uma metodologia aceita internacionalmente, e foi realizada nos ambulatórios da universidade. MÉTODOS: Foi realizada tradução e contra-tradução do instrumento. Na fase de adaptação cultural, o SHAQ foi aplicado a 20 pacientes. As questões que apresentaram mais de 20% de incompreensão foram modificadas e aplicadas em outros 20 pacientes. Para validade e confiabilidade, 20 pacientes foram entrevistados em dois momentos: no primeiro, por dois entrevistadores e após 14 dias por um deles. Foram aplicados o Health Assessment Questionnaire (HAQ), o Disabilities of the Arm, Shoulder and Hand (DASH) e o short form-36 (SF-36), para a validade externa. RESULTADOS: Na avaliação interobservador, o coeficiente de correlação de Pearson e o coeficiente de correlação intraclasse foram ambos de 0,967. Na avaliação intraobservador o coeficiente de correlação de Pearson foi de 0,735, e o coeficiente de correlação intraclasse foi de 0,687. Na validade externa, os escores do SHAQ foram associados estatisticamente com todos os instrumentos, exceto com o domínio estado geral de saúde do SF-36 e o escore relacionado ao trabalho (Q2) do DASH. CONCLUSÃO: A versão brasileira do SHAQ mostrou ser válida ...
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cross-Cultural Comparison , Cultural Characteristics , Surveys and Questionnaires/standards , Translations , Brazil , Disability Evaluation , Reproducibility of Results , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/psychologyABSTRACT
Introdução: A esclerose sistêmica (ES) é uma doença multissistêmica, autoimune, caracterizada por disfunção fibroblástica e vasculopatia, causando grande impacto na qualidade de vida (QV). Esta é mensurada por instrumentos ou questionários, geralmente formulados em outros idiomas e inseridos em contextos culturais distintos. Objetivo: Traduzir, adaptar culturalmente e validar para a língua portuguesa (Brasil) o questionário do Systemic Sclerosis Questionnaire (SySQ) de QV em ES. Metodologia: Tradução e adaptação: etapa realizada de acordo com metodologia específica de tradução de questionários. Confiabilidade: foi analisada através de três entrevistas, realizadas por diferentes entrevistadores, sendo duas no mesmo dia (interobservação) e uma terceira após 14 dias (intraobservação). Validade: avaliada pela correlação clínica e parâmetros de QV com os domínios do Sysc. Análise estatística: realizada análise descritiva da amostra. A reprodutibilidade foi avaliada através de um coeficiente de correlação intraclasse (ICC) e a consistência interna pelo coeficiente alfa de Cronbach, já para analisar a validade utilizou o coeficiente de correlação de Spearman. Resultados: Foram observados 16 pacientes portadores de ES. Os nossos resultados foram semelhantes aos do questionário original, com a consistência interna variando entre 0,73 e 0,93 para cada item. A reprodutibilidade interobservador foi muito boa para todos os domínios (α = 0,786 a 0,983), e a intraobservador foi muito boa para o domínio de sintomas gerais (CCI = 0,916), boa para os domínios de sintomas musculoesqueléticos (CCI = 0,897) e cardiopulmonares (CCI = 0,842) e razoáveis para o de sintomas gastrintestinais (CCI = ...
Introduction: Systemic sclerosis (SSc) is a multisystem disease, autoimmune disorder characterized by a fibroblastic disfunction, with significant impact on quality of life (QoL), measured by instruments or questionnaires that usually were formulated in other languages and in different cultural contexts. Objective: Translate into Brazilian Portuguese, cross cultural adaptation and assess the reliability and validity of the Systemic Sclerosis Questionnaire (SySQ). Methodology: Translation and adaptation: into Portuguese and cross-cultural adaptation was performed in accordance with studies on questionnaire translation methodology into other languages. Reliability: it was analyzed using three interviews with different interviewers, two on the same day (interobserver) and the third within 14 days of the first assessment (intraobserver).Validity was assessed by correlating clinical and quality of life parameters with the domain scores of Sysc. Statistical analysis: a descriptive analysis of the study sample. Reproducibility was assessed using an intraclass correlation coefficient (ICC). Internal consistency was assessed using Cronbach's alpha coefficient. To assess validity we used Spearman correlation coefficient. Five percent was the level of significance adopted for all statistical tests. Results: In the evaluation of the questionnaires, the results were similar to the original questionnaire, the internal consistency ranging between 0.73 and 0.93 for each item. The interobserver reproducibility was very good for all domains (α = 0.786 to 0.983) and intraobserver agreement was considered very good for general symptoms domain (ICC = 0.916), good for musculoskeletal symptoms domain (ICC = 0.897) and cardiopulmonary domain (ICC = 0.842) and reasonable for gastrointestinal symptoms domain (ICC = 0.686). Conclusion: The Brazilian Portuguese version of SySQ proved to be reproducible and valid for our population, using a recognized ...