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INTRODUCTION: Interstitial lung disease is a leading cause of mortality in patients with systemic sclerosis. Currently, there is a lack of consensus regarding screening, rescreening, diagnosis, and follow-up practices in interstitial lung disease associated with systemic sclerosis (SSc-ILD) in Colombia. METHODS: A structured survey focused on clinical practices in patients with SSc-ILD was conducted. Members of the Asociación Colombiana de Neumología y Cirugía de Tórax (Asoneumocito) and the Asociación Colombiana de Reumatología (Asoreuma) were invited to participate from March 2023 to May 2023. RESULTS: We surveyed 51 pulmonologists and 44 rheumatologists. Overall, 51.6% reported having access to multidisciplinary team discussion in ILD. Among the 95 participants, 78.9% would routinely perform a high-resolution computed tomography scan of the chest once a diagnosis of systemic sclerosis was established. This practice is more frequent among rheumatologists (84.1%) than among pulmonologists (74.5%). Approximately half of the participants would rescreen patients annually with computed tomography scan (56.8%) if baseline images were negative. Spirometry (81.1%), diffusing capacity of the lung for carbon monoxide (80.0%), and 6-min walk test (55.8%) were the most frequently performed tests upon diagnosis of systemic sclerosis. During follow-up, participants would consider repeating pulmonary function tests mostly every 6 months. CONCLUSIONS: Screening of SSc-ILD is high among pulmonologists and rheumatologists. Decision-making on diagnosis and follow-up is similar between specialties, but there are variations in their frequency and indications. Further research is needed to evaluate how to adapt recommendations for assessing SSc-ILD in different settings.
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Doenças Pulmonares Intersticiais , Padrões de Prática Médica , Pneumologistas , Reumatologistas , Escleroderma Sistêmico , Escleroderma Sistêmico/complicações , Humanos , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/complicações , Colômbia , Padrões de Prática Médica/estatística & dados numéricos , Masculino , Pesquisas sobre Atenção à Saúde , Tomografia Computadorizada por Raios X , Feminino , Pessoa de Meia-Idade , AdultoRESUMO
BACKGROUND: Systemic sclerosis (SSc) is a rare chronic autoimmune disease with heterogeneous manifestations. In the last decade, several clinical trials have been conducted to evaluate new treatment options for SSc. The purpose of this work is to update the recommendations of the Brazilian Society of Rheumatology in light of the new evidence available for the pharmacological management of SSc. METHODS: A systematic review including randomized clinical trials (RCTs) for predefined questions that were elaborated according to the Patient/Population, Intervention, Comparison, and Outcomes (PICO) strategy was conducted. The rating of the available evidence was performed according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. To become a recommendation, at least 75% agreement of the voting panel was needed. RESULTS: Six recommendations were elaborated regarding the pharmacological treatment of Raynaud's phenomenon, the treatment (healing) and prevention of digital ulcers, skin involvement, interstitial lung disease (ILD) and gastrointestinal involvement in SSc patients based on results available from RCTs. New drugs, such as rituximab, were included as therapeutic options for skin involvement, and rituximab, tocilizumab and nintedanib were included as therapeutic options for ILD. Recommendations for the pharmacological treatment of scleroderma renal crisis and musculoskeletal involvement were elaborated based on the expert opinion of the voting panel, as no placebo-controlled RCTs were found. CONCLUSION: These guidelines updated and incorporated new treatment options for the management of SSc based on evidence from the literature and expert opinion regarding SSc, providing support for decision-making in clinical practice.
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Doença de Raynaud , Reumatologia , Escleroderma Sistêmico , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/tratamento farmacológico , Humanos , Brasil , Reumatologia/normas , Doença de Raynaud/tratamento farmacológico , Sociedades Médicas , Doenças Pulmonares Intersticiais/tratamento farmacológico , Anticorpos Monoclonais Humanizados/uso terapêutico , Rituximab/uso terapêutico , Ensaios Clínicos Controlados Aleatórios como Assunto , Úlcera Cutânea/etiologia , Antirreumáticos/uso terapêuticoRESUMO
BACKGROUND: Pulmonary hypertension (PH) is a common complication of systemic sclerosis (SSc) and a leading cause of mortality among patients with this disease. PH can also occur as an idiopathic condition (idiopathic pulmonary arterial hypertension). Investigation of transcriptomic alterations in vascular populations is critical to elucidating cellular mechanisms underlying pathobiology of SSc-associated and idiopathic PH. METHODS: We analyzed single-cell RNA sequencing profiles of endothelial and perivascular mesenchymal populations from explanted lung tissue of patients with SSc-associated PH (n=16), idiopathic pulmonary arterial hypertension (n=3), and healthy controls (n=15). Findings were validated by immunofluorescence staining of explanted human lung tissue. RESULTS: Three disease-associated endothelial populations emerged. Two angiogenic endothelial cell (EC) subtypes markedly expanded in SSc-associated PH lungs: tip ECs expressing canonical tip markers PGF and APLN and phalanx ECs expressing genes associated with vascular development, endothelial barrier integrity, and Notch signaling. Gene regulatory network analysis suggested enrichment of Smad1 (SMAD family member 1) and PPAR-γ (peroxisome proliferator-activated receptor-γ) regulon activities in these 2 populations, respectively. Mapping of potential ligand-receptor interactions highlighted Notch, apelin-APJ (apelin receptor), and angiopoietin-Tie (tyrosine kinase with immunoglobulin-like and EGF-like domains 1) signaling pathways between angiogenic ECs and perivascular cells. Transitional cells, expressing both endothelial and pericyte/smooth muscle cell markers, provided evidence for the presence of endothelial-to-mesenchymal transition. Transcriptional programs associated with arterial endothelial dysfunction implicated VEGF-A (vascular endothelial growth factor-A), TGF-ß1 (transforming growth factor beta-1), angiotensin, and TNFSF12 (tumor necrosis factor ligand superfamily member 12)/TWEAK (TNF-related weak inducer of apoptosis) in the injury/remodeling phenotype of PH arterial ECs. CONCLUSIONS: These data provide high-resolution insights into the complexity and plasticity of the pulmonary endothelium in SSc-associated PH and idiopathic pulmonary arterial hypertension and provide direct molecular insights into soluble mediators and transcription factors driving PH vasculopathy.
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Neovascularização Patológica , Escleroderma Sistêmico , Remodelação Vascular , Humanos , Escleroderma Sistêmico/genética , Escleroderma Sistêmico/patologia , Escleroderma Sistêmico/metabolismo , Escleroderma Sistêmico/complicações , Masculino , Feminino , Pessoa de Meia-Idade , Hipertensão Pulmonar Primária Familiar/metabolismo , Hipertensão Pulmonar Primária Familiar/genética , Hipertensão Pulmonar Primária Familiar/fisiopatologia , Hipertensão Pulmonar Primária Familiar/patologia , Estudos de Casos e Controles , Células Endoteliais/metabolismo , Células Endoteliais/patologia , Artéria Pulmonar/metabolismo , Artéria Pulmonar/patologia , Artéria Pulmonar/fisiopatologia , Transcriptoma , Transdução de Sinais , Adulto , Análise de Célula Única , Pulmão/metabolismo , Pulmão/irrigação sanguínea , Pulmão/patologia , Redes Reguladoras de Genes , AngiogêneseRESUMO
We present the case of a 44 year old woman with systemic sclerosis who presented with intense abdominal pain without signs of peritonitis. An abdominal computed tomography showed generalized intestinal dilation, intestinal pneumatosis and an extensive pneumoperitoneum. A diagnostic laparoscopy was performed but no perforation nor gastrointestinal leakage were found. Spontaneous pneumoperitoneum in patients with systemic sclerosis without visceral perforation is an extremely rare complication. Physicians must have a low threshold of suspicion for this entity when a patient with systemic sclerosis presents with spontaneous pneumoperitoneum in the absence of peritoneal signs.
Presentamos el caso de una mujer de 44 años con diagnóstico de esclerosis sistémica, quien presentó dolor abdominal intenso sin datos de irritación peritoneal. Una tomografía computarizada de abdomen mostró dilatación generalizada de asas intestinales, neumatosis intestinal y neumoperitoneo extenso, por lo cual se realizó una laparoscopía diagnóstica, sin encontrar sitio de perforación. El neumoperitoneo espontáneo en pacientes con esclerodermia sin evidencia de perforación visceral es una complicación extremadamente rara. El médico deberá mantener un alto índice de sospecha para esta condición ante un paciente con esclerosis sistémica que se presente con un neumoperitoneo espontáneo sin datos de irritación peritoneal.
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Pneumoperitônio , Escleroderma Sistêmico , Humanos , Feminino , Pneumoperitônio/etiologia , Pneumoperitônio/diagnóstico por imagem , Adulto , Escleroderma Sistêmico/complicações , Tomografia Computadorizada por Raios X , Laparoscopia , Dor Abdominal/etiologiaRESUMO
Objectives: Gastric involvement in patients with early systemic sclerosis (SSc) has not been previously investigated. We aim to evaluate the association of gastric dysrhythmias with gastrointestinal (GI) symptoms and nailfold video capillaroscopy (NVC). Methods: Cross-sectional study. Patients with early SSc, completed the UCLA GIT 2.0 questionnaire, performed an NVC, and a surface Electrogastrography (EGG). Descriptive statistics was used for demographic and clinical characteristics and Fisher and Kendall Tau tests were used for association analysis. Results: 75 patients were screened, 30 patients were consecutively enrolled, 29 performed the EGG and 1 patient had a non-interpretable NVC. 29/30 were female with a mean age of 48.7 years (25-72). The mean disease duration from the first non-RP symptom was 22.6 +/-10.8 months and most of the patients had limited disease (76.6%). Total GIT 2.0 score symptoms were moderate-severe in 63% of the participants and 28/29 had an abnormal EGG. Bradygastria was the most common pattern present in 70% of the participants. NVC patterns: 17% early, 34% active, 28% scleroderma-like, 14% non-specific, and 2 patients had a normal NVC. There was no association between severe GI symptoms or NVC patterns and severely abnormal EGG, but the presence of bradygastria was associated with severe impairment in the social functioning area (p 0.018). Conclusions: Gastric dysmotility is common in early SSc and there is a lack of correlation between GI symptoms and NVC scleroderma patterns. EGG is a sensitive, cheap, and non-invasive exam, that may be an alternative to early diagnosis of GI involvement.
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BACKGROUND: Interstitial lung disease (ILD) is a complication in patients with systemic sclerosis (SSc). Accurate strategies to identify its presence in early phases are essential. We conducted the study aiming to determine the validity of ultrasound (US) in detecting subclinical ILD in SSc, and to ascertain its potential in determining the disease progression. METHODS: 133 patients without respiratory symptoms and 133 healthy controls were included. Borg scale, Rodnan skin score (RSS), auscultation, chest radiographs, and respiratory function tests (RFT) were performed. A rheumatologist performed the lung US. High-resolution CT (HRCT) was also performed. The patients were followed every 12 weeks for 48 weeks. RESULTS: A total of 79 of 133 patients (59.4%) showed US signs of ILD in contrast to healthy controls (4.8%) (p = 0.0001). Anti-centromere antibodies (p = 0.005) and RSS (p = 0.004) showed an association with ILD. A positive correlation was demonstrated between the US and HRCT findings (p = 0.001). The sensitivity and specificity of US in detecting ILD were 91.2% and 88.6%, respectively. In the follow-up, a total of 30 patients out of 79 (37.9%) who demonstrated US signs of ILD at baseline, showed changes in the ILD score by US. CONCLUSIONS: US showed a high prevalence of subclinical ILD in SSc patients. It proved to be a valid, reliable, and feasible tool to detect ILD in SSc and to monitor disease progression.
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Progressão da Doença , Doenças Pulmonares Intersticiais , Escleroderma Sistêmico , Tomografia Computadorizada por Raios X , Ultrassonografia , Humanos , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Doenças Pulmonares Intersticiais/etiologia , Escleroderma Sistêmico/diagnóstico por imagem , Escleroderma Sistêmico/complicações , Feminino , Masculino , Pessoa de Meia-Idade , Ultrassonografia/métodos , Adulto , Tomografia Computadorizada por Raios X/métodos , Sensibilidade e Especificidade , Pulmão/diagnóstico por imagem , Idoso , Reprodutibilidade dos Testes , Testes de Função RespiratóriaRESUMO
Introduction: The presence of three different entities in a single patient is usually of clinical interest and mostly anecdotal. The overlap of systemic sclerosis (SSc), Sjögren syndrome (SS), and ANCA-associated renal-limited vasculitis has been reported only once previously. Case Presentation: A 61-year-old female was evaluated at consultation with 2 years of symptomatology, presenting cardboard-like skin, sclerodactyly, limited oral opening, and dry skin and eyes. She was admitted for progressive renal failure (serum creatinine, 5.5 mg/dL). Her serology work-up showed positive anti-SCL-70, anti-Ro, anti-La, anti-MPO, and antinuclear antibodies. Renal biopsy was performed and confirmed histological findings for SSc, SS, and ANCA-associated vasculitis with active extracapillary glomerulonephritis with fibrous predominance (EUVAS-Berden sclerotic class), active tubulointerstitial nephritis, focal tubular injury, and moderate chronic arteriolopathy. Treatment with 6 monthly doses of methylprednisolone and cyclophosphamide was established. At the last follow-up, the patient maintained a stable serum creatinine level of 2.6 mg/dL and had decreased proteinuria, no erythrocyturia, and no requirement for renal replacement therapy. Conclusion: Systemic sclerosis is a rare autoimmune disease; nevertheless, overlap with Sjögren syndrome is relatively common, although its association with ANCA vasculitis is anecdotal. Diagnostic integration presents a challenge for nephrologists to define the prognosis and a specific treatment.
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OBJECTIVES: To assess foot function in Systemic Sclerosis (SSc) and its association with sociodemographic and clinical factors. To evaluate mobility, foot alterations, foot pain, and foot care in these patients. METHODS: Consecutive SSc patients underwent structured interviews and physical examinations. Disability was assessed using Health Assessment Questionnaire (HAQ) and Scleroderma Health Assessment Questionnaire. (SHAQ). Foot function was measured using Foot Function Index (FFI), foot pain using a numeric pain scale (NPS), and mobility using Timed-UP-Go test (TUG). RESULTS: 101 patients were included. Forefoot pain was observed in 50.5%, hindfoot pain in 31.7%, foot ulcers in 6.9%, foot plantar callosities in 38.6%, foot arthritis in 2.97%, hallux valgus in 9.9%, claw toes in 5%, and valgus ankle in 3% of patients. The mean FFI was 3.54 (±2.6), NPS was 6.08 (±3.58), and TUG test was 10.52 (±6.5) seconds. Higher FFI scores, increased NPS, and prolonged TUG were associated with Raynaud's phenomenon severity, SHAQ, and HAQ. 36.6% of patients reported never having their feet examined, and only 32.7% had their feet examined within the past year. CONCLUSION: Foot dysfunction and pain are common in SSc. Higher FFI scores, increased pain, and prolonged TUG duration were linked to disability (HAQ and SHAQ). These analyses should be considered exploratory and require confirmation in external cohorts. Routine foot examinations were lacking in clinical practice. Improved attention for evaluating and caring for the feet in SSc patients is needed.
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We present the case of a 35-year-old male patient, sandblaster for eight years, recently diagnosed with pulmonary tuberculosis and systemic sclerosis, who was admitted with dyspnea and poor general condition. Chest X-ray showed a grade I pneumothorax, and on the chest tomography he presented confluent hyperdense masses associated with a pattern of non- specific interstitial pneumonia (NSIP), findings compatible with complicated silicosis. Due to the advanced clinical stage, neither invasive diagnostic test nor pulmonary function test could be performed. Initial treatment included placement of a pleural drainage tube, antituberculosis treatment and chronic home oxygen. The patient was referred to the interstitial disease and rheumatology departments for multidisciplinary management, although the infectious condition contraindicated the possibility of immunosuppressive treatment. The patient eventually died under palliative care. Silica inhalation is the cause of silicosis, but it is also implicated in the development of systemic sclerosis (Erasmus syndrome) and although they share a common risk factor, it is rare to find both diseases coexisting. We present the case of a young patient in whom both diseases presented aggressively, with the aim of highlighting the importance of actively searching for expositional diseases and associated conditions.
Presentamos el caso de un hombre de 35 años, arenador durante ocho años, con diagnóstico reciente de tuberculosis pulmonar y esclerosis sistémica, que ingresó por cuadro de disnea y mal estado general. Se realizó radiografía de tórax donde se evidenció neumotórax grado I, en la tomografía de tórax, también presentó masas hiperdensas confluyentes, asociadas a un patrón de neumonía intersticial no especifica (NSIP), hallazgos compatibles con silicosis pulmonar complicada. Debido al avanzado estadio clínico, no pudieron realizarse estudios diagnósticos invasivos ni estudios de función pulmonar. Como tratamiento inicial se colocó un tubo de avenamiento pleural, se realizó tratamiento antifímico y se indicó oxigenoterapia crónica domiciliaria. Se remitió al paciente a consultorios de enfermedades intersticiales y reumatología para un manejo multidisciplinario, aunque el cuadro infeccioso contraindicó la posibilidad de un tratamiento inmunosupresor. Finalmente, el paciente falleció bajo cuidados paliativos. La inhalación de sílice es la causa de la silicosis, pero también está implicada en el desarrollo de la esclerosis sistémica (síndrome de Erasmus) y aunque comparten un factor de riesgo común, es raro encontrar ambas enfermedades coexistiendo. Presentamos el caso de un paciente joven donde ambas condiciones se presentaron de manera agresiva, con el objetivo de remarcar la importancia de la búsqueda activa de las enfermedades por exposición y sus condiciones asociadas.
Assuntos
Escleroderma Sistêmico , Silicose , Tuberculose Pulmonar , Tuberculose , Masculino , Humanos , Adulto , Silicose/diagnóstico , Silicose/diagnóstico por imagem , Tuberculose/complicações , Tuberculose/diagnóstico , Tuberculose/tratamento farmacológico , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar/diagnóstico por imagem , Radiografia , Síndrome , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnósticoRESUMO
INTRODUCTION: Th/To autoantibody may be relevant in evaluating patients with interstitial lung disease (ILD) because the clinical diagnosis of systemic sclerosis (SSc) may not be evident. The study's objective was to describe manifestations and evolution of pulmonary function in a cohort of ILD patients positive for Th/To autoantibodies. METHODS: ILD patients positive for anti-Th/To autoantibody were enrolled in this protocol. Baseline clinical features were registered, and survival analysis was performed to identify risk factors associated with worse survival. RESULTS: Fifty-two patients positive for anti-Th/To autoantibodies with ILD were included. Only 21% of the patients fulfilled the ACR/EULAR 2013 systemic sclerosis classification criteria, and 63.4% fulfilled the IPAF ATS/ERS 2015 criteria. Twenty-five percent of the patients died during follow-up. Respiratory failure was the principal cause of death. Twenty-nine patients (56%) were positive for other hallmark SSc autoantibodies. The most frequent HRCT pattern was nonspecific interstitial pneumonia (NISP). Survival was strongly associated to the systolic pulmonary arterial pressure (sPAP), male sex and the extent of fibrosis in HRCT; besides, patients positive for other hallmark SSc autoantibodies had worse survival compared to those positive only to anti-Th/To. Seventy-six percent of them behaved as fibrotic progressive pulmonary disease, with an absolute decline of the FVC of at least 5%. CONCLUSIONS: Only a small proportion of ILD patients positive for Th/To meet the criteria to be classified as SSc; however, most met criteria for IPAF. A high proportion of patients behave as progressive fibrotic pulmonary disease. Survival is associated with sPAP, the extent of lung disease, and the presence of other hallmark SSc autoantibodies.
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Doenças Pulmonares Intersticiais , Escleroderma Sistêmico , Humanos , Masculino , Autoanticorpos , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/complicações , Pulmão , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , PrognósticoRESUMO
Systemic sclerosis (SSc) is an autoimmune disease characterized by systemic inflammation, endothelial dysfunction, generalized fibrosis and high cardiovascular mortality. The evaluation of cardiovascular risk through the visceral adiposity index (VAI) has been helpful due to its direct relationship to the body and visceral fat percentage. We evaluated the influence of body composition and anthropometrics on cardiovascular risk as measured by VAI in healthy controls (HC) and SSc. An analytical cross-sectional study of 66 participants (33 SSc and 33 HC), mean age 52.7 ± 10, 95% women, was conducted from August 2020 to January 2021. Inclusion criteria in cases were consecutive patients with SSc (ACR/EULAR 2013), 63.6% were diffuse cutaneous (dcSS) subtype, and 36.4 were limited cutaneous (lcSS) subtype. HC was matched by age and gender. Serum lipid profiles and InBody anthropometrics were analyzed and compared. We performed descriptive statistics, bivariate analysis with Student's t, or Mann-Whitney U, correlation and chi-square according to the variable type and distribution. Total cholesterol was significantly higher in SSc than HC (345 vs 194, p = < 0.001). The BMI was higher in HC (26.2 vs 28.9, p < 0.001). Kilograms of muscle (19.8 vs 28.9, p < 0.001) and total fat (23.4 vs 28.9, p < 0.001) were lower in SSc patients compared to HC. VAI was similar when BMI < 25, but significantly higher when BMI > 25 in SSc than in HC (3 vs 1.9, p = 0.030). The increase in BMI at overweight or obese in SSc is associated with a significant increase in cardiovascular risk.
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Doenças Cardiovasculares , Escleroderma Sistêmico , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Masculino , Adiposidade , Índice de Massa Corporal , Fatores de Risco , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Estudos Transversais , Obesidade Abdominal/complicações , Fatores de Risco de Doenças Cardíacas , Escleroderma Sistêmico/complicaçõesRESUMO
Introducción: El riesgo cardiovascular es importante en la evaluación de los pacientes con esclerosis sistémica. Objetivo: Determinar el riesgo cardiovascular en pacientes con esclerosis sistémica. Métodos: Se realizó un estudio transversal y descriptivo en pacientes protocolizados del Servicio de Reumatología, en el período de enero 2020 a enero 2022. Se recogieron variables demográficas, clínicas, y se aplicó la calculadora de riesgo cardiovascular Framingham. Resultados: Se incluyeron 105 pacientes con edad media de 48,6 ± 15,3 años, el grupo más frecuente de 50 a 59 años (36,2 por ciento), predominó el sexo femenino 92,2 por ciento el color de piel blanca (74,3 por ciento), el tiempo de evolución fue mayor a 5 años (66,7 por ciento) con una media de 10,5 ± 9,3. El valor promedio de la escala de gravedad modificada de Medsger fue 5,1 ± 2,7 y el 72,4 por ciento con afectación leve. El fenómeno de Raynaud y la fibrosis pulmonar fueron más frecuentes con un 89,5 por ciento y 55,2 por ciento. El índice de Rodnan en promedio fue de 13,1 ± 8,0 y los reactantes de fase aguda normales en la mayoría. Los factores de riesgo cardiovascular más frecuentes fueron la HTA (30,2 por ciento) y dislipidemia (19,9 por ciento). El índice de masa corporal que predominó fue de peso adecuado (54,3 por ciento). Predominó el riesgo cardiovascular bajo según score de Framingham (86 por ciento). Existieron diferencias significativas entre las medias del tiempo de evolución y el riesgo cardiovascular (10 ± 6,9 frente a 9,6 ± 8,8 frente a 16,9 ± 10,8; p = 0,032). Conclusiones: El riesgo cardiovascular en los pacientes con esclerosis sistémica fue bajo(AU)
Introduction: Cardiovascular risk is important in the evaluation of patients with systemic sclerosis. Objective: To determine the cardiovascular risk in patients with systemic sclerosis. Methods: A cross-sectional and descriptive study was carried out in protocolized patients of Rheumatology Service, from January 2020 to January 2022. Demographic and clinical variables were collected, and Framingham cardiovascular risk calculator was used. Results: One hundred five patients were included with a mean age of 48.6 ± 15.3 years, the most frequent group was 50 to 59 years (36.2percent), female sex (92.2percent) predominated, as well as white skin color (74.3percent). The evolution time was greater than 5 years (66.7percent) with a mean of 10.5 ± 9.3. The average value of modified Medsger severity scale was 5.1 ± 2.7 and 72.4percent had mild involvement. Raynaud's phenomenon and pulmonary fibrosis were more common at 89.5percent and 55.2percent. Rodnan index on average was 13.1 ± 8.0 and the acute phase reactants were normal in the majority. The most frequent cardiovascular risk factors were HBP (30.2percent) and dyslipidemia (19.9percent). The predominant body mass index was adequate weight (54.3percent). Low cardiovascular risk according to Framingham score prevailed (86percent). There were significant differences between the mean duration of evolution and cardiovascular risk (10 ± 6.9 vs. 9.6 ± 8.8 vs. 16.9 ± 10.8; p = 0.032). Conclusions: The cardiovascular risk in patients with systemic sclerosis was low(AU)
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Humanos , Masculino , Feminino , Fibrose Pulmonar/epidemiologia , Doença de Raynaud/diagnóstico , Escleroderma Sistêmico/complicações , Fatores de Risco de Doenças Cardíacas , Epidemiologia Descritiva , Estudos TransversaisRESUMO
Resumen Presentamos el caso de un hombre de 35 años, are nador durante ocho años, con diagnóstico reciente de tuberculosis pulmonar y esclerosis sistémica, que ingre só por cuadro de disnea y mal estado general. Se realizó radiografía de tórax donde se evidenció neumotórax grado I, en la tomografía de tórax, también presentó masas hiperdensas confluyentes, asociadas a un patrón de neumonía intersticial no especifica (NSIP), hallazgos compatibles con silicosis pulmonar complicada. Debi do al avanzado estadio clínico, no pudieron realizarse estudios diagnósticos invasivos ni estudios de función pulmonar. Como tratamiento inicial se colocó un tubo de avenamiento pleural, se realizó tratamiento antifímico y se indicó oxigenoterapia crónica domiciliaria. Se remitió al paciente a consultorios de enfermedades intersticia les y reumatología para un manejo multidisciplinario, aunque el cuadro infeccioso contraindicó la posibilidad de un tratamiento inmunosupresor. Finalmente, el pa ciente falleció bajo cuidados paliativos. La inhalación de sílice es la causa de la silicosis, pero también está implicada en el desarrollo de la esclerosis sistémica (síndrome de Erasmus) y aunque comparten un factor de riesgo común, es raro encontrar ambas enfermedades coexistiendo. Presentamos el caso de un paciente joven donde ambas condiciones se presentaron de manera agresiva, con el objetivo de remarcar la importancia de la búsqueda activa de las enfermedades por exposición y sus condiciones asociadas.
Abstract We present the case of a 35-year-old male patient, sandblaster for eight years, recently diagnosed with pulmonary tuberculosis and systemic sclerosis, who was admitted with dyspnea and poor general condition. Chest X-ray showed a grade I pneumothorax, and on the chest tomography he presented confluent hyperdense masses associated with a pattern of non- specific in terstitial pneumonia (NSIP), findings compatible with complicated silicosis. Due to the advanced clinical stage, neither invasive diagnostic test nor pulmonary func tion test could be performed. Initial treatment included placement of a pleural drainage tube, antituberculosis treatment and chronic home oxygen. The patient was referred to the interstitial disease and rheumatology de partments for multidisciplinary management, although the infectious condition contraindicated the possibility of immunosuppressive treatment. The patient eventu ally died under palliative care. Silica inhalation is the cause of silicosis, but it is also implicated in the devel opment of systemic sclerosis (Erasmus syndrome) and although they share a common risk factor, it is rare to find both diseases coexisting. We present the case of a young patient in whom both diseases presented aggres sively, with the aim of highlighting the importance of actively searching for expositional diseases and associ ated conditions.
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INTRODUCCIÓN: La hipertensión arterial pulmonar puede estar asociada secundariamente a enfermedades del tejido conectivo. Entre estas enfermedades, predominan la esclerosis sistémica y la dermatomiositis juvenil. MATERIALES Y MÉTODOS: Se realizó un estudio retrospectivo, descriptivo y transversal. Se incluyeron todos los pacientes con diagnóstico de dermatomiositis juvenil y esclerosis sistémica que acudieron a nuestro hospital. Posteriormente se verificaron los niveles de presión arterial pulmonar mediante ecocardiografía. RESULTADOS: Se incluyeron 58 pacientes, de los cuales sólo 17 pacientes tuvieron ecocardiografía diagnóstica. Entre ellos, dos pacientes presentaron hipertensión arterial pulmonar. CONCLUSIÓN: La detección oportuna de la hipertensión arterial pulmonar en las enfermedades del tejido conectivo es esencial. Generalmente es asintomático. Es necesario adherirse al protocolo internacional que sugiere realizar ecocardiografía en todos los pacientes con dermatomiositis juvenil y esclerosis sistémica.
INTRODUCTION: Pulmonary arterial hypertension may be secondary associated with connective tissue diseases. Among these diseases, systemic sclerosis and juvenile dermatomyositis predominate. MATERIALS AND METHODS: A retrospective, descriptive and cross-sectional study was carried out. All patients with a diagnosis of juvenile dermatomyositis and systemic sclerosis who attended our hospital were included. Pulmonary arterial pressure levels were subsequently verified by echocardiography. RESULTS: 58 patients were included, of which only 17 patients had a diagnostic echocardiography. Among them, two patients presented pulmonary arterial hypertension. CONCLUSION: Timely detection of pulmonary arterial hypertension in connective tissue diseases is essential. It is generally asymptomatic. It is necessary to adhere to the international protocol that suggests performing echocardiography in all patients with juvenile dermatomyositis and systemic sclerosis.
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Teste de Esforço , Escleroderma Sistêmico , Humanos , Feminino , Brasil , Testes de Função Respiratória , MarchaRESUMO
Systemic sclerosis (SSc) can lead to dyspnea and respiratory failure through multiple mechanisms, making a precise diagnosis particularly challenging, especially amid the current COVID-19 pandemic. In this report, we present a case involving a 26-year-old female who had previously undiagnosed SSc. She experienced acute respiratory failure necessitating orotracheal intubation. Following an extensive evaluation, the patient exhibited skin thickening, kidney failure, thrombocytopenia, microangiopathic anemia, and an antinuclear antibody with a nuclear fine speckled pattern at a titer of 1:320. A diagnosis of SSc complicated by scleroderma renal crisis (SRC) was established. The patient's condition improved after undergoing hemodialysis, receiving an angiotensin-converting enzyme inhibitor, and undergoing cyclophosphamide treatment. Subsequently, she demonstrated sustained improvement during a follow-up period of 20 months.
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Keloidal or nodular scleroderma (NS) is a variant of localized scleroderma (LS) frequently seen in patients with limited or diffuse systemic sclerosis (SSc). It presents as raised, firm plaques or nodules with extensive dermal fibrosis and hyalinized collagen bundles. We present a patient with SSc who presented with this rare entity.
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Queloide , Esclerodermia Localizada , Escleroderma Sistêmico , Humanos , Esclerodermia Localizada/diagnóstico , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , Queloide/etiologia , Queloide/patologiaRESUMO
Resumen Los síndromes esclerodermiformes suelen imitar muy bien una esclerosis sistémica progresiva, y es la presencia de ampollas cutáneas en áreas fotoexpuestas con hiperpigmentación los datos diferenciales para diagnosticar una porfiria. Presentamos el caso de un varón de 48 años con fotosensibilidad, fragilidad capilar, ampollas cutáneas e hiperpigmentación asociado a esclerodactilia, con pérdida cicatrizal distal de tejido en los dedos de las manos, que simuló a la perfección una esclerosis sistémica progresiva. La analítica mostró negatividad para anticuerpos antinucleares, antitopoisomerasa y anticentrómero, con valores altos de uroporfirinas en orina. El tratamiento con flebotomías e hidroxicloquina mejoró la fotosensibilidad y la fragilidad cutánea.
Abstract Sclerodermiform syndromes usually mimic progressive systemic sclerosis very well, with the presence of skin blisters in photo-exposed areas with hyperpigmentation being the differential data for diagnosing porphyria. We present the case of a 48-year old man with photosensitivity, capillary fragility, skin blisters, and hyperpigmentation associated with sclerodactyly with distal scar tissue loss on the fingers, which perfectly simulated progressive systemic sclerosis. The analysis showed negativity for antinuclear, antitopoisomerase and anticentromere antibodies, with high levels of uroporphyrins in urine. Phlebotomy and hydroxycloquine treatment improved photosensitivity and skin fragility.
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Porfiria Cutânea Tardia , Escleroderma Sistêmico , UroporfirinasRESUMO
Introduction: The overlapping of systemic sclerosis with hematologic malignancy has been described previously in the literature. This case report presents a patient with systemic sclerosis and multiple myeloma who had severe digital ischaemia that culminated in the amputation of several fingers. Case report: A 65-year-old White female patient was diagnosed with limited systemic sclerosis in 2002, smouldering multiple myeloma IgG/kappa in 2017 and liver cirrhosis in 2018 due to autoimmune hepatitis. In 2021, she was admitted to the emergency room with dry ischaemia of all fingers and toes despite optimized therapy, associated with visual blurring. The diagnostic hypothesis was hyperviscosity syndrome associated with multiple myeloma reactivation. The patient underwent chemotherapy and despite initial laboratory improvement, 19 digits required amputation. Conclusion: Although the association between systemic sclerosis and multiple myeloma is rare, it should be remembered in cases of significant worsening of Raynaud's phenomenon. Causes unrelated to systemic sclerosis should also be considered in the presence of severe exacerbations in patients with other comorbidities.
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OBJECTIVE: To evaluate the association between sympathovagal balance and exercise performance, as measured by the 6-min walk test (6MWT), in women with systemic sclerosis (SSc) without cardiac involvement. RESULTS: This was a cross-sectional study in which 69 women with SSc [median age 51 (40-63 years)] without cardiac involvement underwent the 6MWT. Throughout the 6MWT, heart rate variability (HRV) was assessed using dedicated software. METHODS: The median 6-min walking distance (6MWD) was 451 (392-498) meters, and 29 (42%) participants did not achieve 80% of the predicted value for healthy adults. Desaturation during the 6MWT (SpO2 ≤ 4%) was observed in 10.1% of participants. Significant correlations were observed between the 6MWD and the following HRV parameters: number of successive normal-to-normal RR interval differences > 50 ms (rs=-0.397, P = 0.013), low-frequency range (rs=0.374, P = 0.023), high-frequency range (rs=-0.372, P = 0.023), and parasympathetic nervous system index (rs=-0.342, P = 0.045). CONCLUSION: In women with SSc, there is an interrelationship of the 6MWD with both vagal withdrawal and sympathetic hyperactivation. This relationship between autonomic imbalance and worse exercise performance might increase cardiovascular risk, even in patients without apparent cardiac involvement. Control of the heart by the autonomic nervous system may be a potential target for treating patients with SSc.